Mutagenetix > Incidental Mutation

Incidental Mutation 'R1729:Zan'

198898

Institutional Source

Beutler Lab

Gene Symbol

Zan

Ensembl Gene

ENSMUSG00000079173

Gene Name

zonadhesin

Synonyms

MMRRC Submission

039761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137378637-137477064 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 137415018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117564] [ENSMUST00000164178]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000117564
AA Change: C3217F

SMART Domains

Protein: ENSMUSP00000114068
Gene: ENSMUSG00000079173
AA Change: C3217F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
MAM	42	210	3.55e-20	SMART
MAM	214	374	3.97e-9	SMART
MAM	375	542	5.7e-42	SMART
low complexity region	549	563	N/A	INTRINSIC
low complexity region	578	607	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC
low complexity region	672	689	N/A	INTRINSIC
low complexity region	702	779	N/A	INTRINSIC
low complexity region	782	865	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	941	1038	N/A	INTRINSIC
low complexity region	1043	1084	N/A	INTRINSIC
low complexity region	1096	1131	N/A	INTRINSIC
low complexity region	1136	1147	N/A	INTRINSIC
low complexity region	1150	1167	N/A	INTRINSIC
low complexity region	1178	1192	N/A	INTRINSIC
EGF_like	1236	1259	7.09e1	SMART
VWC	1266	1356	5e-3	SMART
VWD	1316	1477	3.73e-36	SMART
C8	1521	1596	6.91e-23	SMART
EGF_like	1607	1647	6.41e1	SMART
VWC	1654	1745	1.08e-2	SMART
VWD	1703	1869	2.71e-47	SMART
C8	1908	1982	3.45e-32	SMART
Pfam:TIL	1985	2039	4.5e-13	PFAM
VWC	2041	2095	4.84e-1	SMART
FOLN	2074	2096	9.79e1	SMART
VWD	2088	2260	5.49e-25	SMART
C8	2307	2381	6.73e-3	SMART
Pfam:TIL	2384	2442	3e-12	PFAM
VWC	2444	2504	1.13e-1	SMART
FOLN	2475	2498	3.73e0	SMART
EGF_like	2512	2557	6.54e1	SMART
VWC	2564	2637	3.68e-2	SMART
FOLN	2595	2618	4.04e0	SMART
VWC	2684	2744	3.08e-1	SMART
FOLN	2715	2738	7.78e0	SMART
VWC	2804	2864	1.7e0	SMART
FOLN	2835	2858	2.58e1	SMART
VWC	2924	2984	4.74e-1	SMART
VWC	3044	3104	2.44e-1	SMART
VWC	3164	3237	7.57e-2	SMART
FOLN	3195	3218	2.25e1	SMART
VWC	3284	3344	4.22e-1	SMART
FOLN	3315	3338	2.1e0	SMART
VWC	3401	3461	7.67e-2	SMART
FOLN	3432	3455	4.39e0	SMART
VWC	3521	3581	8.45e-2	SMART
FOLN	3552	3575	1.27e1	SMART
VWC	3641	3714	3.51e-1	SMART
FOLN	3672	3695	2.16e0	SMART
VWC	3761	3821	9.7e-2	SMART
FOLN	3792	3815	1.27e1	SMART
VWC	3881	3954	1.83e-1	SMART
FOLN	3912	3933	1.17e1	SMART
VWC	3997	4050	3.61e-1	SMART
FOLN	4028	4051	1.84e0	SMART
EGF_like	4081	4126	5.79e1	SMART
VWC	4133	4210	4.03e-1	SMART
FOLN	4164	4187	7.99e0	SMART
VWC	4253	4308	3.21e-1	SMART
FOLN	4284	4302	8.54e1	SMART
VWC	4368	4428	2.74e-2	SMART
FOLN	4399	4422	7.46e1	SMART
VWC	4488	4548	6.37e-1	SMART
FOLN	4519	4542	1.04e0	SMART
VWC	4608	4681	4.47e-1	SMART
FOLN	4639	4662	2.22e0	SMART
VWC	4728	4781	1.12e0	SMART
FOLN	4759	4782	3.29e1	SMART
EGF	4800	4841	2.43e1	SMART
VWC	4848	4901	7.59e-1	SMART
FOLN	4879	4902	5.31e0	SMART
VWD	4899	5061	4.49e-30	SMART
low complexity region	5086	5102	N/A	INTRINSIC
C8	5113	5191	8.25e-21	SMART
Pfam:TIL	5194	5247	1.9e-12	PFAM
VWC	5249	5307	1.22e0	SMART
EGF	5306	5339	3.15e-3	SMART
transmembrane domain	5356	5378	N/A	INTRINSIC
low complexity region	5381	5399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150470

SMART Domains

Protein: ENSMUSP00000114562
Gene: ENSMUSG00000079173

Domain	Start	End	E-Value	Type
Pfam:TIL	1	54	1.9e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000164178
AA Change: C3217F

SMART Domains

Protein: ENSMUSP00000132895
Gene: ENSMUSG00000079173
AA Change: C3217F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
MAM	42	210	3.55e-20	SMART
MAM	214	374	3.97e-9	SMART
MAM	375	542	5.7e-42	SMART
low complexity region	549	563	N/A	INTRINSIC
low complexity region	578	607	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC
low complexity region	672	689	N/A	INTRINSIC
low complexity region	702	779	N/A	INTRINSIC
low complexity region	782	865	N/A	INTRINSIC
low complexity region	890	913	N/A	INTRINSIC
low complexity region	941	1038	N/A	INTRINSIC
low complexity region	1043	1084	N/A	INTRINSIC
low complexity region	1096	1131	N/A	INTRINSIC
low complexity region	1136	1147	N/A	INTRINSIC
low complexity region	1150	1167	N/A	INTRINSIC
low complexity region	1178	1192	N/A	INTRINSIC
EGF_like	1236	1259	7.09e1	SMART
VWC	1266	1356	5e-3	SMART
VWD	1316	1477	3.73e-36	SMART
C8	1521	1596	6.91e-23	SMART
EGF_like	1607	1647	6.41e1	SMART
VWC	1654	1745	1.08e-2	SMART
VWD	1703	1869	2.71e-47	SMART
C8	1908	1982	3.45e-32	SMART
Pfam:TIL	1985	2039	2.3e-13	PFAM
VWC	2041	2095	4.84e-1	SMART
FOLN	2074	2096	9.79e1	SMART
VWD	2088	2260	5.49e-25	SMART
C8	2307	2381	6.73e-3	SMART
Pfam:TIL	2384	2442	6e-12	PFAM
VWC	2444	2504	1.13e-1	SMART
FOLN	2475	2498	3.73e0	SMART
EGF_like	2512	2557	6.54e1	SMART
VWC	2564	2637	3.68e-2	SMART
FOLN	2595	2618	4.04e0	SMART
VWC	2684	2744	3.08e-1	SMART
FOLN	2715	2738	7.78e0	SMART
VWC	2804	2864	1.7e0	SMART
FOLN	2835	2858	2.58e1	SMART
VWC	2924	2984	4.74e-1	SMART
VWC	3044	3104	2.44e-1	SMART
VWC	3164	3237	7.57e-2	SMART
FOLN	3195	3218	2.25e1	SMART
VWC	3284	3344	4.22e-1	SMART
FOLN	3315	3338	2.1e0	SMART
VWC	3401	3461	7.67e-2	SMART
FOLN	3432	3455	4.39e0	SMART
VWC	3521	3581	8.45e-2	SMART
FOLN	3552	3575	1.27e1	SMART
VWC	3641	3714	3.51e-1	SMART
FOLN	3672	3695	2.16e0	SMART
VWC	3761	3821	9.7e-2	SMART
FOLN	3792	3815	1.27e1	SMART
VWC	3881	3954	1.83e-1	SMART
FOLN	3912	3933	1.17e1	SMART
VWC	3997	4050	3.61e-1	SMART
FOLN	4028	4051	1.84e0	SMART
EGF_like	4081	4126	5.79e1	SMART
VWC	4133	4210	4.03e-1	SMART
FOLN	4164	4187	7.99e0	SMART
VWC	4253	4308	3.21e-1	SMART
FOLN	4284	4302	8.54e1	SMART
VWC	4368	4428	2.74e-2	SMART
FOLN	4399	4422	7.46e1	SMART
VWC	4488	4548	6.37e-1	SMART
FOLN	4519	4542	1.04e0	SMART
VWC	4608	4681	4.47e-1	SMART
FOLN	4639	4662	2.22e0	SMART
VWC	4728	4781	1.12e0	SMART
FOLN	4759	4782	3.29e1	SMART
EGF	4800	4841	2.43e1	SMART
VWC	4848	4901	7.59e-1	SMART
FOLN	4879	4902	5.31e0	SMART
VWD	4899	5061	4.49e-30	SMART
low complexity region	5086	5102	N/A	INTRINSIC
C8	5113	5191	8.25e-21	SMART
Pfam:TIL	5194	5247	7.2e-13	PFAM
VWC	5249	5307	1.22e0	SMART
EGF	5306	5339	3.15e-3	SMART
transmembrane domain	5356	5378	N/A	INTRINSIC
low complexity region	5381	5399	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Sperm from mice homozygous for a knock-out allele exhibit decreased species-specific zona pellucida adhesion without alteration in fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 225 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,439,600		probably benign	Het
4930453N24Rik	T	C	16: 64,769,022	I90V	probably damaging	Het
Aadat	A	G	8: 60,526,712	T203A	probably damaging	Het
Adamts17	C	T	7: 67,149,956	R1060*	probably null	Het
Adamts5	T	A	16: 85,877,915	K454*	probably null	Het
Adgrg6	T	C	10: 14,439,782	T593A	probably damaging	Het
Aldh1l2	T	A	10: 83,508,082	K377*	probably null	Het
Aldh4a1	A	G	4: 139,644,161	Y462C	probably damaging	Het
Ankrd12	G	T	17: 65,984,076	P1454Q	probably benign	Het
Ap2m1	T	A	16: 20,539,338	N35K	probably damaging	Het
Aspm	A	G	1: 139,473,574	I1111V	probably benign	Het
Atr	G	A	9: 95,897,581	V1331I	probably benign	Het
Boc	T	C	16: 44,496,419	T454A	probably benign	Het
C4bp	C	G	1: 130,642,988	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315	R802Q	probably benign	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Car14	G	A	3: 95,901,248	P18L	possibly damaging	Het
Cbs	G	T	17: 31,620,949	A337E	probably benign	Het
Ccdc129	T	C	6: 55,968,541	F749S	probably benign	Het
Ccdc186	A	C	19: 56,809,220	H306Q	probably benign	Het
Ccdc93	C	T	1: 121,456,126	P192L	probably benign	Het
Ccdc93	T	C	1: 121,461,939	V237A	probably benign	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cd55	C	A	1: 130,459,633	A143S	probably benign	Het
Cdh19	C	A	1: 110,893,384	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735	L307V	possibly damaging	Het
Cdk12	T	C	11: 98,249,970		probably benign	Het
Cep350	A	T	1: 155,911,981	H1370Q	probably benign	Het
Cfh	T	C	1: 140,136,788	K374R	probably benign	Het
Cfh	C	T	1: 140,147,697	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,813,442	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459	N259K	probably benign	Het
Chat	A	T	14: 32,446,795	L261H	probably damaging	Het
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Clcn1	T	A	6: 42,299,514	F360Y	possibly damaging	Het
Clgn	A	G	8: 83,423,030	S387G	probably damaging	Het
Clk1	C	T	1: 58,421,261	R70Q	probably damaging	Het
Cntnap5a	C	A	1: 116,455,004	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143	T1047I	probably benign	Het
Crb1	T	C	1: 139,234,779	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417	R684H	probably benign	Het
Cspg4	G	T	9: 56,898,537	V2211L	probably benign	Het
Cwh43	T	C	5: 73,408,218	L42P	probably damaging	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	Het
D830039M14Rik	C	T	10: 61,475,727		probably benign	Het
Ddx59	T	C	1: 136,417,053	V154A	probably benign	Het
Dhx30	T	C	9: 110,098,751	H101R	probably damaging	Het
Dnah11	T	A	12: 117,916,931	D3818V	probably damaging	Het
Dnah9	G	A	11: 66,085,020	T1401I	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dsel	G	C	1: 111,859,994	T937S	probably benign	Het
Dstyk	C	T	1: 132,456,984	L739F	probably damaging	Het
Ehf	T	G	2: 103,273,906	T186P	possibly damaging	Het
Elf2	A	T	3: 51,257,572	V277D	probably damaging	Het
Etnk2	A	G	1: 133,363,923	S54G	probably benign	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Eya2	G	T	2: 165,687,663	G109W	probably damaging	Het
Fam208a	A	T	14: 27,479,633	N1367Y	probably damaging	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fam78b	A	G	1: 167,001,630	D22G	possibly damaging	Het
Fastkd2	T	A	1: 63,751,300	C628*	probably null	Het
Fat3	A	C	9: 15,996,315	V2797G	possibly damaging	Het
Fcamr	A	C	1: 130,804,627	N117T	probably benign	Het
Fcamr	A	G	1: 130,811,580	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692	I283V	probably benign	Het
Fcamr	T	C	1: 130,812,738	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597	N574D	probably benign	Het
Fcmr	A	G	1: 130,875,974	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269	S321P	probably benign	Het
Fut10	T	A	8: 31,201,390	S88T	probably benign	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gli2	C	T	1: 118,868,087	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044	H44Q	probably benign	Het
Gm5346	T	C	8: 43,625,583	N535D	probably damaging	Het
Gon4l	T	A	3: 88,903,098	D1844E	probably damaging	Het
Gpr25	G	A	1: 136,260,710	P55L	probably benign	Het
Guk1	A	T	11: 59,185,312	V100E	probably damaging	Het
Ifi44l	T	C	3: 151,762,819	I25V	unknown	Het
Igfn1	G	A	1: 135,959,928	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683	I10V	unknown	Het
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783	V1433A	probably benign	Het
Kif18b	A	G	11: 102,915,541		probably null	Het
Kif26a	T	C	12: 112,176,785	S1158P	possibly damaging	Het
Kmt2d	A	G	15: 98,865,132	C279R	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Krt23	A	T	11: 99,492,964	V34D	probably damaging	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lax1	T	C	1: 133,679,978	R342G	probably benign	Het
Lax1	T	C	1: 133,680,569	N145D	probably benign	Het
Lax1	G	A	1: 133,683,634	P67S	probably damaging	Het
Lgr6	C	T	1: 134,987,088	V641I	probably benign	Het
Lgr6	A	T	1: 134,988,009	S334T	probably benign	Het
Lgr6	G	T	1: 134,990,635	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476	S3N	probably benign	Het
Lmod1	C	T	1: 135,364,073	T222I	probably benign	Het
Mb21d2	A	G	16: 28,828,421	V267A	probably benign	Het
Megf10	T	C	18: 57,240,792		probably null	Het
Mfrp	A	G	9: 44,104,587	T334A	possibly damaging	Het
Miga2	A	G	2: 30,368,968	H63R	probably damaging	Het
Mrgbp	T	A	2: 180,585,449	N192K	probably damaging	Het
Mrgpra2b	A	G	7: 47,464,879	I35T	probably benign	Het
Mroh3	G	C	1: 136,192,144	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,197,480	R249C	probably benign	Het
Nav1	A	T	1: 135,584,727	D198E	possibly damaging	Het
Ndufaf7	A	T	17: 78,937,629	K59M	probably damaging	Het
Necab3	T	C	2: 154,546,875	S208G	probably benign	Het
Nfrkb	C	T	9: 31,414,636	T1125M	probably benign	Het
Npnt	G	A	3: 132,914,397	Q112*	probably null	Het
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Nrcam	A	G	12: 44,573,850	K893E	probably benign	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr870	A	T	9: 20,170,913	Y219*	probably null	Het
Optc	A	T	1: 133,903,796		probably null	Het
Optc	C	G	1: 133,905,170	S64T	probably benign	Het
Otoa	T	C	7: 121,125,439	V447A	probably benign	Het
Patj	G	A	4: 98,431,780	G428D	possibly damaging	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Pkn2	G	A	3: 142,810,701	P555S	probably benign	Het
Pla2g12a	A	G	3: 129,894,940	E149G	probably benign	Het
Plec	C	A	15: 76,177,692	E2547*	probably null	Het
Plekha6	C	G	1: 133,287,846	T792S	probably benign	Het
Ppfia4	G	A	1: 134,299,321	P1159S	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpn7	A	G	1: 135,134,475	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254	K212E	possibly damaging	Het
Rab29	A	G	1: 131,872,110	Q141R	probably benign	Het
Rab3gap1	T	G	1: 127,942,486	L948R	probably damaging	Het
Rbsn	A	T	6: 92,190,019	L548Q	possibly damaging	Het
Ren1	T	A	1: 133,354,206	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237	T32I	probably benign	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Rint1	T	A	5: 23,809,843	D352E	probably benign	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977	A11G	probably benign	Het
Sctr	T	C	1: 120,031,656	F110L	probably benign	Het
Sctr	G	T	1: 120,063,246	E453D	probably benign	Het
Sctr	G	A	1: 120,063,257	S440N	possibly damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543	S284R	probably benign	Het
Serpinb8	A	G	1: 107,597,527	S20G	probably benign	Het
Serpinb8	G	A	1: 107,598,954	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004	L268F	probably benign	Het
Slain2	A	G	5: 72,957,614	H396R	probably damaging	Het
Slc22a5	G	A	11: 53,866,351	P491L	probably damaging	Het
Slc26a4	A	G	12: 31,544,494	V285A	possibly damaging	Het
Slc26a9	C	T	1: 131,763,870	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012	R747S	probably benign	Het
Slc9a8	T	C	2: 167,424,145	F14S	probably benign	Het
Spock3	T	C	8: 63,348,977	L330P	probably damaging	Het
Steap3	T	C	1: 120,227,750	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378	A350V	probably benign	Het
Synpo2l	G	A	14: 20,665,819	P233S	probably damaging	Het
Tbc1d19	T	G	5: 53,829,372	I41S	probably damaging	Het
Tecta	G	A	9: 42,391,922	T138I	probably benign	Het
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631	Q1116P	probably benign	Het
Tmem241	T	A	18: 12,068,312	H157L	probably damaging	Het
Tnfrsf25	T	A	4: 152,118,304		probably null	Het
Tnnt2	C	T	1: 135,845,506		probably benign	Het
Traf3ip3	T	A	1: 193,181,893	Q394L	probably benign	Het
Traf7	A	G	17: 24,512,379	F228L	probably damaging	Het
Trhr	A	G	15: 44,197,153	E23G	probably damaging	Het
Trim59	T	C	3: 69,036,853	T385A	probably benign	Het
Trove2	C	T	1: 143,760,014	V465I	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Tubgcp2	T	C	7: 139,998,055	T779A	probably benign	Het
Tusc2	A	T	9: 107,564,631	I68F	probably damaging	Het
Ube2t	C	T	1: 134,972,167	A149V	probably benign	Het
Usp24	A	G	4: 106,360,421	N447S	possibly damaging	Het
Usp42	T	C	5: 143,714,626	D1214G	probably damaging	Het
Vmn2r73	T	C	7: 85,857,878	Y742C	probably damaging	Het
Wdfy4	A	T	14: 33,096,005	S1473T	possibly damaging	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zfyve9	A	C	4: 108,718,501	V461G	possibly damaging	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly damaging	Het

Other mutations in Zan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Zan	APN	5	137387820	critical splice donor site	probably null
IGL00158:Zan	APN	5	137454257	missense	unknown
IGL00473:Zan	APN	5	137464250	missense	possibly damaging	0.68
IGL00536:Zan	APN	5	137446682	missense	unknown
IGL00567:Zan	APN	5	137416277	unclassified	probably benign
IGL00820:Zan	APN	5	137386364	missense	unknown
IGL00850:Zan	APN	5	137464113	missense	unknown
IGL00906:Zan	APN	5	137389360	missense	unknown
IGL00920:Zan	APN	5	137464524	missense	unknown
IGL00964:Zan	APN	5	137405941	unclassified	probably benign
IGL01356:Zan	APN	5	137436432	missense	unknown
IGL01361:Zan	APN	5	137414342	unclassified	probably benign
IGL01362:Zan	APN	5	137452450	missense	unknown
IGL01411:Zan	APN	5	137388893	missense	unknown
IGL01412:Zan	APN	5	137393032	missense	unknown
IGL01531:Zan	APN	5	137424612	missense	unknown
IGL01561:Zan	APN	5	137463866	missense	unknown
IGL01564:Zan	APN	5	137446733	missense	unknown
IGL01568:Zan	APN	5	137464844	missense	unknown
IGL01719:Zan	APN	5	137395654	missense	unknown
IGL01732:Zan	APN	5	137393011	missense	unknown
IGL01761:Zan	APN	5	137425597	missense	unknown
IGL01771:Zan	APN	5	137393068	missense	unknown
IGL01810:Zan	APN	5	137463626	missense	unknown
IGL01845:Zan	APN	5	137380854	unclassified	probably benign
IGL01885:Zan	APN	5	137464124	missense	unknown
IGL01992:Zan	APN	5	137424106	missense	unknown
IGL02026:Zan	APN	5	137405464	unclassified	probably benign
IGL02065:Zan	APN	5	137386960	nonsense	probably null
IGL02133:Zan	APN	5	137411498	missense	possibly damaging	0.84
IGL02274:Zan	APN	5	137421167	missense	unknown
IGL02449:Zan	APN	5	137389327	missense	unknown
IGL02456:Zan	APN	5	137446844	missense	unknown
IGL02493:Zan	APN	5	137435706	missense	unknown
IGL02496:Zan	APN	5	137464794	nonsense	probably null
IGL02528:Zan	APN	5	137465141	missense	possibly damaging	0.83
IGL02550:Zan	APN	5	137387039	missense	unknown
IGL02598:Zan	APN	5	137446211	missense	unknown
IGL02697:Zan	APN	5	137400548	missense	unknown
IGL02933:Zan	APN	5	137428414	missense	unknown
IGL02963:Zan	APN	5	137456250	missense	unknown
IGL02972:Zan	APN	5	137463686	missense	unknown
IGL03068:Zan	APN	5	137476415	missense	probably damaging	1.00
IGL03104:Zan	APN	5	137463500	missense	unknown
IGL03110:Zan	APN	5	137420016	missense	unknown
IGL03156:Zan	APN	5	137463939	missense	unknown
IGL03302:Zan	APN	5	137468390	missense	possibly damaging	0.93
IGL03307:Zan	APN	5	137474025	missense	probably damaging	0.99
IGL03340:Zan	APN	5	137427874	missense	unknown
IGL03379:Zan	APN	5	137464215	missense	unknown
IGL03405:Zan	APN	5	137424597	missense	unknown
Befallen	UTSW	5	137412676	unclassified	probably benign
befell	UTSW	5	137446037	splice site	probably null
R3853_zan_008	UTSW	5	137474064	missense	probably damaging	1.00
BB010:Zan	UTSW	5	137463579	missense	unknown
BB020:Zan	UTSW	5	137463579	missense	unknown
G1patch:Zan	UTSW	5	137438520	missense	unknown
PIT4283001:Zan	UTSW	5	137400093	missense	unknown
PIT4431001:Zan	UTSW	5	137392064	missense	unknown
PIT4498001:Zan	UTSW	5	137417036	critical splice donor site	probably null
R0027:Zan	UTSW	5	137406519	unclassified	probably benign
R0047:Zan	UTSW	5	137403656	missense	unknown
R0149:Zan	UTSW	5	137396766	missense	unknown
R0240:Zan	UTSW	5	137398362	missense	unknown
R0240:Zan	UTSW	5	137398362	missense	unknown
R0241:Zan	UTSW	5	137421822	missense	unknown
R0241:Zan	UTSW	5	137421822	missense	unknown
R0361:Zan	UTSW	5	137396766	missense	unknown
R0432:Zan	UTSW	5	137382316	unclassified	probably benign
R0436:Zan	UTSW	5	137464902	missense	unknown
R0446:Zan	UTSW	5	137391658	missense	unknown
R0457:Zan	UTSW	5	137407706	unclassified	probably benign
R0478:Zan	UTSW	5	137400526	splice site	probably benign
R0487:Zan	UTSW	5	137413358	critical splice donor site	probably null
R0497:Zan	UTSW	5	137412676	unclassified	probably benign
R0504:Zan	UTSW	5	137470318	missense	probably damaging	1.00
R0545:Zan	UTSW	5	137396177	missense	unknown
R0556:Zan	UTSW	5	137454220	missense	unknown
R0615:Zan	UTSW	5	137468431	missense	probably damaging	1.00
R0737:Zan	UTSW	5	137389249	missense	unknown
R0835:Zan	UTSW	5	137408397	unclassified	probably benign
R0863:Zan	UTSW	5	137458639	missense	unknown
R0971:Zan	UTSW	5	137434063	missense	unknown
R1327:Zan	UTSW	5	137465911	splice site	probably benign
R1338:Zan	UTSW	5	137393651	nonsense	probably null
R1413:Zan	UTSW	5	137427939	missense	unknown
R1446:Zan	UTSW	5	137389360	missense	unknown
R1464:Zan	UTSW	5	137419929	missense	unknown
R1464:Zan	UTSW	5	137419929	missense	unknown
R1561:Zan	UTSW	5	137380838	nonsense	probably null
R1569:Zan	UTSW	5	137429130	missense	unknown
R1575:Zan	UTSW	5	137461952	missense	unknown
R1618:Zan	UTSW	5	137383830	missense	unknown
R1634:Zan	UTSW	5	137412790	unclassified	probably benign
R1650:Zan	UTSW	5	137394601	splice site	probably benign
R1680:Zan	UTSW	5	137403050	missense	unknown
R1698:Zan	UTSW	5	137409669	utr 3 prime	probably benign
R1704:Zan	UTSW	5	137434002	nonsense	probably null
R1728:Zan	UTSW	5	137415018	unclassified	probably benign
R1769:Zan	UTSW	5	137464518	missense	unknown
R1774:Zan	UTSW	5	137419989	missense	unknown
R1800:Zan	UTSW	5	137386451	missense	unknown
R1858:Zan	UTSW	5	137405877	unclassified	probably benign
R1888:Zan	UTSW	5	137389328	missense	unknown
R1888:Zan	UTSW	5	137389328	missense	unknown
R1925:Zan	UTSW	5	137425642	missense	unknown
R1938:Zan	UTSW	5	137388939	missense	unknown
R1955:Zan	UTSW	5	137389283	missense	unknown
R1989:Zan	UTSW	5	137420006	nonsense	probably null
R1997:Zan	UTSW	5	137403114	nonsense	probably null
R2008:Zan	UTSW	5	137452450	missense	unknown
R2035:Zan	UTSW	5	137443947	missense	unknown
R2153:Zan	UTSW	5	137436400	missense	unknown
R2154:Zan	UTSW	5	137414249	unclassified	probably benign
R2176:Zan	UTSW	5	137421848	missense	unknown
R2217:Zan	UTSW	5	137410306	utr 3 prime	probably benign
R2218:Zan	UTSW	5	137410306	utr 3 prime	probably benign
R2237:Zan	UTSW	5	137457837	nonsense	probably null
R2239:Zan	UTSW	5	137457837	nonsense	probably null
R2346:Zan	UTSW	5	137421867	missense	unknown
R2360:Zan	UTSW	5	137396126	missense	unknown
R2389:Zan	UTSW	5	137476380	critical splice donor site	probably null
R2412:Zan	UTSW	5	137414163	splice site	probably null
R2426:Zan	UTSW	5	137388992	missense	unknown
R2435:Zan	UTSW	5	137438574	missense	unknown
R2509:Zan	UTSW	5	137456586	missense	unknown
R3416:Zan	UTSW	5	137435720	missense	unknown
R3691:Zan	UTSW	5	137420019	missense	unknown
R3853:Zan	UTSW	5	137474064	missense	probably damaging	1.00
R4006:Zan	UTSW	5	137463939	missense	unknown
R4007:Zan	UTSW	5	137463939	missense	unknown
R4033:Zan	UTSW	5	137437860	nonsense	probably null
R4059:Zan	UTSW	5	137436820	missense	unknown
R4109:Zan	UTSW	5	137458619	missense	unknown
R4194:Zan	UTSW	5	137463555	missense	unknown
R4226:Zan	UTSW	5	137423978	missense	unknown
R4457:Zan	UTSW	5	137411516	missense	unknown
R4544:Zan	UTSW	5	137383834	missense	unknown
R4546:Zan	UTSW	5	137383834	missense	unknown
R4642:Zan	UTSW	5	137464188	missense	unknown
R4708:Zan	UTSW	5	137446712	missense	unknown
R4773:Zan	UTSW	5	137436313	splice site	probably benign
R4774:Zan	UTSW	5	137389019	missense	unknown
R4788:Zan	UTSW	5	137442113	missense	unknown
R4795:Zan	UTSW	5	137380850	nonsense	probably null
R4796:Zan	UTSW	5	137380850	nonsense	probably null
R4812:Zan	UTSW	5	137456285	missense	unknown
R4832:Zan	UTSW	5	137393161	missense	unknown
R4882:Zan	UTSW	5	137438448	missense	unknown
R4896:Zan	UTSW	5	137386456	missense	unknown
R4921:Zan	UTSW	5	137408370	unclassified	probably benign
R4943:Zan	UTSW	5	137457890	missense	unknown
R4978:Zan	UTSW	5	137406921	unclassified	probably benign
R5013:Zan	UTSW	5	137383837	missense	unknown
R5024:Zan	UTSW	5	137461893	nonsense	probably null
R5230:Zan	UTSW	5	137454078	missense	unknown
R5354:Zan	UTSW	5	137380788	unclassified	probably benign
R5380:Zan	UTSW	5	137457840	missense	unknown
R5394:Zan	UTSW	5	137435634	missense	unknown
R5394:Zan	UTSW	5	137464074	missense	unknown
R5435:Zan	UTSW	5	137403762	missense	unknown
R5441:Zan	UTSW	5	137436751	missense	unknown
R5447:Zan	UTSW	5	137472191	missense	probably damaging	1.00
R5455:Zan	UTSW	5	137454000	missense	unknown
R5495:Zan	UTSW	5	137470408	missense	probably damaging	1.00
R5496:Zan	UTSW	5	137436345	missense	unknown
R5523:Zan	UTSW	5	137421893	missense	unknown
R5534:Zan	UTSW	5	137438451	missense	unknown
R5572:Zan	UTSW	5	137394431	missense	unknown
R5576:Zan	UTSW	5	137428482	nonsense	probably null
R5587:Zan	UTSW	5	137391762	missense	unknown
R5593:Zan	UTSW	5	137468338	missense	possibly damaging	0.72
R5600:Zan	UTSW	5	137386971	missense	unknown
R5682:Zan	UTSW	5	137414259	nonsense	probably null
R5712:Zan	UTSW	5	137400098	missense	unknown
R5751:Zan	UTSW	5	137410161	splice site	probably null
R5782:Zan	UTSW	5	137420007	missense	unknown
R5835:Zan	UTSW	5	137456655	missense	unknown
R5846:Zan	UTSW	5	137394376	splice site	probably null
R5903:Zan	UTSW	5	137442134	missense	unknown
R5911:Zan	UTSW	5	137457912	missense	unknown
R5935:Zan	UTSW	5	137443930	missense	unknown
R5985:Zan	UTSW	5	137446037	splice site	probably null
R5995:Zan	UTSW	5	137378809	unclassified	probably benign
R6012:Zan	UTSW	5	137464529	missense	unknown
R6077:Zan	UTSW	5	137414297	unclassified	probably benign
R6227:Zan	UTSW	5	137468343	missense	probably damaging	0.96
R6262:Zan	UTSW	5	137429485	splice site	probably null
R6337:Zan	UTSW	5	137452488	missense	unknown
R6598:Zan	UTSW	5	137406364	unclassified	probably benign
R6725:Zan	UTSW	5	137438520	missense	unknown
R6765:Zan	UTSW	5	137393147	missense	unknown
R6820:Zan	UTSW	5	137407844	unclassified	probably benign
R6829:Zan	UTSW	5	137416278	unclassified	probably benign
R6851:Zan	UTSW	5	137396191	missense	unknown
R6903:Zan	UTSW	5	137456304	missense	unknown
R6910:Zan	UTSW	5	137419080	missense	unknown
R6968:Zan	UTSW	5	137461813	missense	unknown
R7021:Zan	UTSW	5	137423951	missense	unknown
R7039:Zan	UTSW	5	137400134	missense	unknown
R7101:Zan	UTSW	5	137398290	missense	unknown
R7102:Zan	UTSW	5	137454200	critical splice donor site	probably null
R7155:Zan	UTSW	5	137461844	missense	unknown
R7158:Zan	UTSW	5	137400644	missense	unknown
R7170:Zan	UTSW	5	137463494	missense	unknown
R7203:Zan	UTSW	5	137434096	missense	unknown
R7204:Zan	UTSW	5	137427978	missense	unknown
R7305:Zan	UTSW	5	137415139	missense	unknown
R7327:Zan	UTSW	5	137465232	missense	probably benign	0.35
R7340:Zan	UTSW	5	137383830	missense	unknown
R7360:Zan	UTSW	5	137386970	missense	unknown
R7385:Zan	UTSW	5	137434154	nonsense	probably null
R7385:Zan	UTSW	5	137450491	missense	unknown
R7438:Zan	UTSW	5	137425562	missense	unknown
R7453:Zan	UTSW	5	137466002	missense	probably damaging	1.00
R7483:Zan	UTSW	5	137446795	missense	unknown
R7499:Zan	UTSW	5	137464356	missense	probably benign	0.23
R7566:Zan	UTSW	5	137412583	critical splice donor site	probably null
R7641:Zan	UTSW	5	137467108	missense	possibly damaging	0.74
R7674:Zan	UTSW	5	137467108	missense	possibly damaging	0.74
R7678:Zan	UTSW	5	137463540	missense	unknown
R7785:Zan	UTSW	5	137429143	missense	unknown
R7814:Zan	UTSW	5	137463579	missense	unknown
R7841:Zan	UTSW	5	137436802	missense	unknown
R7861:Zan	UTSW	5	137407033	missense	unknown
R7869:Zan	UTSW	5	137473601	missense	probably damaging	1.00
R7933:Zan	UTSW	5	137463579	missense	unknown
R7934:Zan	UTSW	5	137463579	missense	unknown
R7935:Zan	UTSW	5	137463579	missense	unknown
R7960:Zan	UTSW	5	137409603	missense	unknown
R7960:Zan	UTSW	5	137464892	missense	unknown
R7990:Zan	UTSW	5	137393090	missense	unknown
R8008:Zan	UTSW	5	137405362	missense	unknown
R8025:Zan	UTSW	5	137406352	missense	unknown
R8061:Zan	UTSW	5	137436631	missense	unknown
R8190:Zan	UTSW	5	137467084	missense	probably damaging	1.00
R8202:Zan	UTSW	5	137389327	missense	unknown
R8302:Zan	UTSW	5	137409661	missense	unknown
R8305:Zan	UTSW	5	137450551	missense	unknown
R8328:Zan	UTSW	5	137394464	missense	unknown
R8377:Zan	UTSW	5	137391687	missense	unknown
R8404:Zan	UTSW	5	137398332	missense	unknown
R8502:Zan	UTSW	5	137473583	missense	probably damaging	1.00
R8510:Zan	UTSW	5	137388938	missense	unknown
R8511:Zan	UTSW	5	137446846	missense	unknown
R8527:Zan	UTSW	5	137435709	missense	unknown
R8695:Zan	UTSW	5	137386955	missense	unknown
R8708:Zan	UTSW	5	137463277	critical splice donor site	probably null
R8744:Zan	UTSW	5	137427864	missense	unknown
R8795:Zan	UTSW	5	137398260	missense	unknown
R8841:Zan	UTSW	5	137456674	missense	unknown
R8862:Zan	UTSW	5	137474412	missense	probably benign	0.28
R8937:Zan	UTSW	5	137395626	missense	unknown
R8973:Zan	UTSW	5	137389316	missense	unknown
R8988:Zan	UTSW	5	137408301	missense	unknown
R8995:Zan	UTSW	5	137395620	missense	unknown
R9036:Zan	UTSW	5	137465944	missense	probably damaging	1.00
R9037:Zan	UTSW	5	137454316	missense	unknown
R9061:Zan	UTSW	5	137464391	missense	probably damaging	0.98
R9077:Zan	UTSW	5	137403206	missense	unknown
R9164:Zan	UTSW	5	137424071	missense	unknown
R9186:Zan	UTSW	5	137393548	missense	unknown
R9222:Zan	UTSW	5	137467201	missense	possibly damaging	0.56
R9224:Zan	UTSW	5	137474007	missense	probably damaging	1.00
R9277:Zan	UTSW	5	137463992	missense	unknown
R9296:Zan	UTSW	5	137388876	missense	unknown
R9300:Zan	UTSW	5	137470257	critical splice donor site	probably null
R9352:Zan	UTSW	5	137436483	missense	unknown
R9382:Zan	UTSW	5	137391655	missense	unknown
R9393:Zan	UTSW	5	137405420	missense	unknown
R9534:Zan	UTSW	5	137409683	nonsense	probably null
R9548:Zan	UTSW	5	137403061	missense	unknown
R9564:Zan	UTSW	5	137406426	missense	unknown
R9623:Zan	UTSW	5	137463374	missense	unknown
R9643:Zan	UTSW	5	137458550	missense	unknown
R9648:Zan	UTSW	5	137407730	missense	unknown
R9663:Zan	UTSW	5	137380857	missense	unknown
R9683:Zan	UTSW	5	137464514	missense	unknown
R9688:Zan	UTSW	5	137468455	missense	probably damaging	1.00
R9700:Zan	UTSW	5	137456574	missense	unknown
R9715:Zan	UTSW	5	137400555	missense	unknown
R9722:Zan	UTSW	5	137389062	missense	unknown
RF013:Zan	UTSW	5	137391720	missense	unknown
X0062:Zan	UTSW	5	137446238	missense	unknown
X0066:Zan	UTSW	5	137464430	missense	probably benign	0.00
Z1176:Zan	UTSW	5	137393597	missense	unknown
Z1176:Zan	UTSW	5	137398362	missense	unknown
Z1176:Zan	UTSW	5	137411588	missense	unknown
Z1177:Zan	UTSW	5	137383733	missense	unknown
Z1177:Zan	UTSW	5	137389061	missense	unknown
Z1177:Zan	UTSW	5	137393105	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCATGAACTGTGTGTCAGGGCCAG -3'
(R):5'- CACGAAGCTCTTCATAGGAGGCAAG -3'

Sequencing Primer
(F):5'- tctaacagcctcttttgaccc -3'
(R):5'- GTTACTCAGAACTGGCACCTG -3'

Posted On

2014-05-23