Mutagenetix > Incidental Mutation

Incidental Mutation 'R1728:Dnah17'

198600

Institutional Source

Beutler Lab

Gene Symbol

Dnah17

Ensembl Gene

ENSMUSG00000033987

Gene Name

dynein, axonemal, heavy chain 17

Synonyms

LOC382552, Dnahcl1, 2810003K23Rik, Dnahc17

MMRRC Submission

039760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1728 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118021723-118130634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118069519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 2572 (C2572Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084803] [ENSMUST00000106308] [ENSMUST00000132685]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084803
AA Change: C2572Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000081864
Gene: ENSMUSG00000033987
AA Change: C2572Y

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	183	766	8.5e-142	PFAM
low complexity region	1015	1028	N/A	INTRINSIC
Pfam:DHC_N2	1260	1673	5.8e-135	PFAM
Pfam:AAA_6	1793	2023	6e-161	PFAM
low complexity region	2092	2104	N/A	INTRINSIC
Pfam:AAA_5	2107	2243	7.8e-13	PFAM
Pfam:AAA_7	2400	2671	1.1e-171	PFAM
Pfam:AAA_8	2748	3015	4.9e-166	PFAM
Pfam:MT	3027	3370	3.4e-214	PFAM
Pfam:AAA_9	3388	3615	2.4e-144	PFAM
Pfam:Dynein_heavy	3742	4452	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106308
AA Change: C2572Y

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101915
Gene: ENSMUSG00000033987
AA Change: C2572Y

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	184	764	1.7e-152	PFAM
low complexity region	1015	1028	N/A	INTRINSIC
Pfam:DHC_N2	1262	1671	4.1e-132	PFAM
Pfam:AAA_6	1793	2023	7e-149	PFAM
low complexity region	2092	2104	N/A	INTRINSIC
Pfam:AAA_5	2107	2243	2.5e-11	PFAM
Pfam:AAA_7	2400	2671	4.4e-169	PFAM
Pfam:AAA_8	2748	3015	7.1e-163	PFAM
Pfam:MT	3027	3370	1.1e-210	PFAM
Pfam:AAA_9	3392	3614	1e-84	PFAM
Pfam:Dynein_heavy	3748	4479	3.5e-230	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132685
AA Change: C2585Y

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120542
Gene: ENSMUSG00000033987
AA Change: C2585Y

Domain	Start	End	E-Value	Type
Pfam:DHC_N2	279	688	3.1e-132	PFAM
Pfam:AAA_6	811	1041	5.3e-149	PFAM
low complexity region	1110	1122	N/A	INTRINSIC
Blast:AAA	1123	1354	1e-104	BLAST
Pfam:AAA_7	1452	1671	8.9e-134	PFAM
Pfam:AAA_8	1763	2030	5.4e-163	PFAM
Pfam:MT	2042	2168	6.8e-52	PFAM
Pfam:MT	2163	2412	8.2e-149	PFAM
Pfam:AAA_9	2434	2656	7.9e-85	PFAM
Pfam:Dynein_heavy	2790	3457	2.6e-209	PFAM
Pfam:Dynein_heavy	3460	3569	4.6e-17	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 223 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,439,600		probably benign	Het
Aadat	A	G	8: 60,526,712	T203A	probably damaging	Het
Abca13	T	A	11: 9,249,680	F104L	probably benign	Het
Acox1	T	A	11: 116,198,283		probably null	Het
Adamts17	C	T	7: 67,149,956	R1060*	probably null	Het
Adgrg6	T	C	10: 14,439,782	T593A	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
Bola1	C	T	3: 96,197,110	G56D	probably benign	Het
Brsk1	A	G	7: 4,704,219	D257G	probably damaging	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
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
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
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Chrnb1	C	A	11: 69,785,762	D388Y	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
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
Coil	G	A	11: 88,973,976	V10I	probably damaging	Het
Col4a1	G	A	8: 11,212,712	P1256S	possibly damaging	Het
Copa	T	A	1: 172,111,987	F597Y	probably benign	Het
Crb1	C	T	1: 139,243,417	R684H	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
Crybg1	T	A	10: 44,004,019	Q391L	probably damaging	Het
Cspg4	G	T	9: 56,898,537	V2211L	probably benign	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	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
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
En1	A	G	1: 120,603,621	S197G	unknown	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Fam187b	C	T	7: 30,989,020	Q268*	probably null	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fat3	A	C	9: 15,996,315	V2797G	possibly damaging	Het
Fcamr	A	G	1: 130,804,569	R98G	probably benign	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
Glrx2	C	T	1: 143,739,740	A27V	possibly damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm5346	T	C	8: 43,625,583	N535D	probably damaging	Het
Gpr25	G	A	1: 136,260,710	P55L	probably benign	Het
Gse1	G	A	8: 120,568,253		probably benign	Het
Heatr4	T	C	12: 83,967,572	I630M	probably benign	Het
Hectd4	A	T	5: 121,301,839	Y1134F	possibly damaging	Het
Igfn1	T	C	1: 135,998,683	I10V	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
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Ildr1	A	T	16: 36,708,336	T48S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,386,271		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
Kcnh5	T	C	12: 75,137,691	D86G	probably benign	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	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
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif1b	T	C	4: 149,187,722	T1541A	probably damaging	Het
Kif21b	A	G	1: 136,160,121	I983V	possibly damaging	Het
Kif26a	T	C	12: 112,176,785	S1158P	possibly damaging	Het
Kmt2d	A	G	15: 98,865,132	C279R	probably damaging	Het
Kpna3	T	A	14: 61,367,701	E499V	probably benign	Het
Krt16	T	C	11: 100,247,707	E205G	probably damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lax1	G	A	1: 133,683,634	P67S	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
Lgr6	C	T	1: 134,987,088	V641I	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
Mfrp	A	G	9: 44,104,587	T334A	possibly damaging	Het
Morc1	T	A	16: 48,612,297	D709E	probably benign	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
Mycbp2	A	T	14: 103,155,178	C3206S	probably damaging	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
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1026	T	A	2: 85,924,122	L285I	possibly damaging	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr402	A	G	11: 74,155,976	D274G	probably damaging	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
Papss1	A	G	3: 131,605,967	N319D	probably benign	Het
Patj	G	A	4: 98,431,780	G428D	possibly damaging	Het
Pcdhb3	G	A	18: 37,301,878	G299D	probably damaging	Het
Pcsk4	T	C	10: 80,323,570	D432G	probably damaging	Het
Pde5a	G	T	3: 122,748,240	L126F	probably damaging	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Pinx1	A	G	14: 63,878,110		probably null	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
Ppil2	C	G	16: 17,089,419		probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Prrx1	T	A	1: 163,261,967	N97I	probably damaging	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
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	C	1: 133,356,457	K187Q	probably benign	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	A	T	1: 133,359,983	N352Y	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Ren1	C	A	1: 133,358,982		probably null	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977	A11G	probably benign	Het
Ryr2	C	T	13: 11,587,422	V4525M	possibly damaging	Het
Sctr	G	A	1: 120,063,257	S440N	possibly damaging	Het
Sctr	T	C	1: 120,031,656	F110L	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
Sis	A	T	3: 72,965,645	C53*	probably null	Het
Slc13a5	C	T	11: 72,266,459		probably null	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
Stab2	T	G	10: 86,938,039	R809S	probably benign	Het
Steap3	T	C	1: 120,227,750	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378	A350V	probably benign	Het
Tecta	G	A	9: 42,391,922	T138I	probably benign	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
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Tnnt2	C	T	1: 135,845,506		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
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
Upf2	A	T	2: 6,027,450	S191C	probably damaging	Het
Usp24	A	G	4: 106,360,421	N447S	possibly damaging	Het
Usp42	T	C	5: 143,714,626	D1214G	probably damaging	Het
Vcam1	T	A	3: 116,114,515	I633L	probably benign	Het
Vmn2r73	T	C	7: 85,857,878	Y742C	probably damaging	Het
Vmn2r81	C	A	10: 79,270,655	T489K	probably benign	Het
Zan	C	A	5: 137,415,018		probably benign	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621	V583I	probably benign	Het
Zfp616	A	C	11: 74,085,771	K955N	probably damaging	Het
Zfyve9	A	C	4: 108,718,501	V461G	possibly damaging	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly damaging	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het

Other mutations in Dnah17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Dnah17	APN	11	118088214	missense	possibly damaging	0.81
IGL00531:Dnah17	APN	11	118043173	missense	probably damaging	0.97
IGL00764:Dnah17	APN	11	118096485	missense	probably damaging	0.99
IGL00795:Dnah17	APN	11	118093634	missense	probably benign	0.35
IGL00823:Dnah17	APN	11	118047161	missense	probably benign	0.22
IGL01145:Dnah17	APN	11	118047173	missense	possibly damaging	0.63
IGL01433:Dnah17	APN	11	118049934	missense	probably damaging	1.00
IGL01454:Dnah17	APN	11	118058397	missense	probably damaging	1.00
IGL01545:Dnah17	APN	11	118119568	missense	probably damaging	1.00
IGL01548:Dnah17	APN	11	118098612	missense	probably benign	0.21
IGL01557:Dnah17	APN	11	118073686	missense	probably damaging	0.98
IGL01632:Dnah17	APN	11	118033881	missense	probably damaging	1.00
IGL01636:Dnah17	APN	11	118041056	missense	probably benign	0.03
IGL01672:Dnah17	APN	11	118042160	missense	probably damaging	0.97
IGL01822:Dnah17	APN	11	118081993	missense	probably damaging	1.00
IGL01869:Dnah17	APN	11	118052676	missense	probably benign	0.09
IGL01916:Dnah17	APN	11	118125288	missense	probably benign	0.00
IGL02131:Dnah17	APN	11	118072908	missense	probably damaging	1.00
IGL02154:Dnah17	APN	11	118124261	missense	probably benign	0.01
IGL02220:Dnah17	APN	11	118072967	nonsense	probably null
IGL02454:Dnah17	APN	11	118080767	missense	probably damaging	0.98
IGL02458:Dnah17	APN	11	118036350	missense	probably damaging	1.00
IGL02588:Dnah17	APN	11	118025653	missense	possibly damaging	0.95
IGL02865:Dnah17	APN	11	118073548	missense	probably damaging	1.00
IGL02881:Dnah17	APN	11	118042118	missense	probably damaging	1.00
IGL02952:Dnah17	APN	11	118088268	missense	probably benign	0.03
IGL03382:Dnah17	APN	11	118081943	missense	probably damaging	1.00
IGL03389:Dnah17	APN	11	118094979	missense	probably damaging	1.00
ergos	UTSW	11	118041158	splice site	probably benign
watt	UTSW	11	118080766	missense	probably damaging	0.96
PIT4280001:Dnah17	UTSW	11	118098582	missense	possibly damaging	0.85
R0004:Dnah17	UTSW	11	118060092	missense	possibly damaging	0.90
R0112:Dnah17	UTSW	11	118074434	missense	possibly damaging	0.82
R0116:Dnah17	UTSW	11	118058306	missense	probably benign	0.01
R0157:Dnah17	UTSW	11	118127171	missense	probably benign
R0320:Dnah17	UTSW	11	118052674	missense	possibly damaging	0.56
R0362:Dnah17	UTSW	11	118098539	missense	probably benign	0.10
R0382:Dnah17	UTSW	11	118128996	missense	probably damaging	1.00
R0383:Dnah17	UTSW	11	118067547	missense	probably benign
R0400:Dnah17	UTSW	11	118082078	missense	probably damaging	1.00
R0420:Dnah17	UTSW	11	118039939	missense	probably damaging	1.00
R0483:Dnah17	UTSW	11	118047124	missense	probably benign
R0533:Dnah17	UTSW	11	118110537	missense	possibly damaging	0.50
R0562:Dnah17	UTSW	11	118072900	missense	probably damaging	1.00
R0564:Dnah17	UTSW	11	118082981	missense	probably damaging	1.00
R0604:Dnah17	UTSW	11	118121471	missense	probably benign	0.00
R0608:Dnah17	UTSW	11	118090749	nonsense	probably null
R0614:Dnah17	UTSW	11	118070568	splice site	probably benign
R0632:Dnah17	UTSW	11	118067682	splice site	probably benign
R0831:Dnah17	UTSW	11	118060271	missense	probably damaging	0.99
R0838:Dnah17	UTSW	11	118060104	missense	probably damaging	1.00
R0879:Dnah17	UTSW	11	118056835	splice site	probably benign
R1061:Dnah17	UTSW	11	118052688	missense	possibly damaging	0.51
R1190:Dnah17	UTSW	11	118042175	missense	probably damaging	1.00
R1293:Dnah17	UTSW	11	118127137	critical splice donor site	probably null
R1297:Dnah17	UTSW	11	118121366	splice site	probably benign
R1332:Dnah17	UTSW	11	118043215	missense	possibly damaging	0.70
R1336:Dnah17	UTSW	11	118043215	missense	possibly damaging	0.70
R1364:Dnah17	UTSW	11	118125606	splice site	probably benign
R1418:Dnah17	UTSW	11	118074023	missense	probably damaging	0.98
R1432:Dnah17	UTSW	11	118023327	missense	probably damaging	1.00
R1497:Dnah17	UTSW	11	118114233	missense	probably damaging	1.00
R1500:Dnah17	UTSW	11	118101053	missense	probably benign
R1506:Dnah17	UTSW	11	118125387	missense	possibly damaging	0.53
R1512:Dnah17	UTSW	11	118095015	missense	probably benign
R1567:Dnah17	UTSW	11	118125985	missense	probably damaging	1.00
R1597:Dnah17	UTSW	11	118103498	splice site	probably benign
R1665:Dnah17	UTSW	11	118121495	splice site	probably benign
R1703:Dnah17	UTSW	11	118026749	missense	probably damaging	1.00
R1716:Dnah17	UTSW	11	118032598	missense	probably benign	0.00
R1727:Dnah17	UTSW	11	118070489	missense	probably damaging	0.98
R1727:Dnah17	UTSW	11	118096536	nonsense	probably null
R1784:Dnah17	UTSW	11	118069519	missense	possibly damaging	0.76
R1852:Dnah17	UTSW	11	118121916	missense	probably damaging	0.97
R1869:Dnah17	UTSW	11	118047189	nonsense	probably null
R1886:Dnah17	UTSW	11	118108161	missense	possibly damaging	0.62
R1893:Dnah17	UTSW	11	118066968	missense	probably benign	0.00
R1954:Dnah17	UTSW	11	118024731	missense	probably damaging	1.00
R1969:Dnah17	UTSW	11	118104535	missense	probably benign	0.00
R1971:Dnah17	UTSW	11	118104535	missense	probably benign	0.00
R1975:Dnah17	UTSW	11	118096536	nonsense	probably null
R1977:Dnah17	UTSW	11	118112591	missense	possibly damaging	0.52
R2055:Dnah17	UTSW	11	118067531	missense	probably benign	0.00
R2115:Dnah17	UTSW	11	118119802	missense	probably benign	0.00
R2132:Dnah17	UTSW	11	118033747	missense	probably damaging	0.98
R2200:Dnah17	UTSW	11	118102409	splice site	probably benign
R2277:Dnah17	UTSW	11	118096561	missense	possibly damaging	0.81
R2279:Dnah17	UTSW	11	118096561	missense	possibly damaging	0.81
R2400:Dnah17	UTSW	11	118126384	critical splice acceptor site	probably null
R2402:Dnah17	UTSW	11	118125974	missense	probably benign	0.10
R2497:Dnah17	UTSW	11	118087024	splice site	probably null
R2923:Dnah17	UTSW	11	118093547	missense	probably damaging	1.00
R3121:Dnah17	UTSW	11	118041086	missense	probably damaging	1.00
R3236:Dnah17	UTSW	11	118094854	missense	probably benign	0.08
R3237:Dnah17	UTSW	11	118094854	missense	probably benign	0.08
R3498:Dnah17	UTSW	11	118080849	splice site	probably benign
R3499:Dnah17	UTSW	11	118080849	splice site	probably benign
R3746:Dnah17	UTSW	11	118082916	missense	probably benign	0.00
R3749:Dnah17	UTSW	11	118082916	missense	probably benign	0.00
R3762:Dnah17	UTSW	11	118104526	missense	probably benign	0.00
R3826:Dnah17	UTSW	11	118041158	splice site	probably benign
R3828:Dnah17	UTSW	11	118041158	splice site	probably benign
R3829:Dnah17	UTSW	11	118041158	splice site	probably benign
R3877:Dnah17	UTSW	11	118024707	missense	probably damaging	1.00
R3899:Dnah17	UTSW	11	118094808	missense	possibly damaging	0.78
R3900:Dnah17	UTSW	11	118094808	missense	possibly damaging	0.78
R3911:Dnah17	UTSW	11	118080849	splice site	probably benign
R3913:Dnah17	UTSW	11	118080849	splice site	probably benign
R3930:Dnah17	UTSW	11	118080849	splice site	probably benign
R3931:Dnah17	UTSW	11	118080849	splice site	probably benign
R3969:Dnah17	UTSW	11	118041158	splice site	probably benign
R3970:Dnah17	UTSW	11	118041158	splice site	probably benign
R4056:Dnah17	UTSW	11	118070538	missense	probably benign	0.05
R4113:Dnah17	UTSW	11	118112594	missense	possibly damaging	0.50
R4295:Dnah17	UTSW	11	118118772	missense	probably damaging	1.00
R4324:Dnah17	UTSW	11	118094213	missense	probably benign	0.01
R4412:Dnah17	UTSW	11	118073683	missense	probably damaging	1.00
R4413:Dnah17	UTSW	11	118025168	missense	probably benign	0.00
R4422:Dnah17	UTSW	11	118081973	missense	possibly damaging	0.91
R4552:Dnah17	UTSW	11	118052943	missense	possibly damaging	0.79
R4669:Dnah17	UTSW	11	118074293	missense	probably benign	0.02
R4677:Dnah17	UTSW	11	118119814	missense	probably damaging	1.00
R4716:Dnah17	UTSW	11	118073648	missense	probably benign	0.02
R4832:Dnah17	UTSW	11	118026780	missense	probably damaging	1.00
R4868:Dnah17	UTSW	11	118108212	missense	probably benign	0.03
R4897:Dnah17	UTSW	11	118078593	missense	probably damaging	1.00
R4928:Dnah17	UTSW	11	118027433	missense	probably damaging	1.00
R4937:Dnah17	UTSW	11	118042154	missense	probably damaging	1.00
R4957:Dnah17	UTSW	11	118074298	missense	probably benign	0.44
R5008:Dnah17	UTSW	11	118110577	missense	probably benign	0.01
R5016:Dnah17	UTSW	11	118080766	missense	probably damaging	0.96
R5027:Dnah17	UTSW	11	118102539	missense	probably benign	0.01
R5133:Dnah17	UTSW	11	118117113	missense	probably benign	0.00
R5140:Dnah17	UTSW	11	118086945	missense	probably damaging	1.00
R5146:Dnah17	UTSW	11	118114179	missense	probably damaging	0.99
R5151:Dnah17	UTSW	11	118027467	missense	probably damaging	1.00
R5153:Dnah17	UTSW	11	118082974	nonsense	probably null
R5192:Dnah17	UTSW	11	118034359	missense	possibly damaging	0.96
R5315:Dnah17	UTSW	11	118127283	missense	possibly damaging	0.79
R5317:Dnah17	UTSW	11	118127283	missense	possibly damaging	0.79
R5335:Dnah17	UTSW	11	118112514	missense	probably damaging	1.00
R5379:Dnah17	UTSW	11	118117203	intron	probably benign
R5396:Dnah17	UTSW	11	118127282	missense	probably benign
R5418:Dnah17	UTSW	11	118094984	missense	probably benign	0.04
R5534:Dnah17	UTSW	11	118052770	missense	possibly damaging	0.83
R5539:Dnah17	UTSW	11	118073660	missense	probably benign	0.03
R5594:Dnah17	UTSW	11	118043229	splice site	probably null
R5634:Dnah17	UTSW	11	118052926	splice site	probably null
R5696:Dnah17	UTSW	11	118101056	missense	probably benign	0.44
R5802:Dnah17	UTSW	11	118036446	missense	possibly damaging	0.79
R5826:Dnah17	UTSW	11	118034367	missense	probably damaging	1.00
R5873:Dnah17	UTSW	11	118056897	missense	probably benign	0.01
R5898:Dnah17	UTSW	11	118114213	missense	probably benign	0.00
R5934:Dnah17	UTSW	11	118041102	missense	probably benign
R6030:Dnah17	UTSW	11	118025549	missense	probably benign	0.32
R6030:Dnah17	UTSW	11	118025549	missense	probably benign	0.32
R6038:Dnah17	UTSW	11	118055889	missense	probably benign	0.00
R6038:Dnah17	UTSW	11	118055889	missense	probably benign	0.00
R6113:Dnah17	UTSW	11	118126275	missense	probably damaging	1.00
R6117:Dnah17	UTSW	11	118119571	missense	probably benign	0.00
R6137:Dnah17	UTSW	11	118025654	missense	probably damaging	1.00
R6173:Dnah17	UTSW	11	118039946	missense	probably damaging	1.00
R6258:Dnah17	UTSW	11	118126322	missense	probably damaging	1.00
R6258:Dnah17	UTSW	11	118126323	nonsense	probably null
R6258:Dnah17	UTSW	11	118126324	missense	probably damaging	1.00
R6260:Dnah17	UTSW	11	118126322	missense	probably damaging	1.00
R6260:Dnah17	UTSW	11	118126323	nonsense	probably null
R6260:Dnah17	UTSW	11	118126324	missense	probably damaging	1.00
R6278:Dnah17	UTSW	11	118126290	missense	probably damaging	0.99
R6298:Dnah17	UTSW	11	118108161	missense	probably benign	0.00
R6300:Dnah17	UTSW	11	118034310	missense	probably damaging	1.00
R6302:Dnah17	UTSW	11	118129155	missense	probably benign	0.09
R6363:Dnah17	UTSW	11	118110505	missense	probably benign
R6381:Dnah17	UTSW	11	118129185	missense	probably benign	0.08
R6418:Dnah17	UTSW	11	118129197	missense	probably damaging	0.99
R6660:Dnah17	UTSW	11	118100188	missense	probably benign
R6803:Dnah17	UTSW	11	118125372	missense	probably benign	0.00
R6820:Dnah17	UTSW	11	118069000	missense	probably damaging	0.99
R6885:Dnah17	UTSW	11	118090772	missense	possibly damaging	0.47
R6921:Dnah17	UTSW	11	118041484	missense	probably damaging	0.98
R6932:Dnah17	UTSW	11	118060079	missense	possibly damaging	0.95
R6954:Dnah17	UTSW	11	118066432	missense	probably damaging	1.00
R7000:Dnah17	UTSW	11	118025702	critical splice acceptor site	probably null
R7007:Dnah17	UTSW	11	118118871	missense	possibly damaging	0.92
R7048:Dnah17	UTSW	11	118046118	missense	possibly damaging	0.80
R7056:Dnah17	UTSW	11	118125386	missense	probably benign
R7131:Dnah17	UTSW	11	118079658	missense	probably benign	0.14
R7143:Dnah17	UTSW	11	118086130	missense	probably damaging	1.00
R7146:Dnah17	UTSW	11	118082110	missense	probably damaging	0.98
R7147:Dnah17	UTSW	11	118094929	missense	probably benign	0.31
R7172:Dnah17	UTSW	11	118041131	nonsense	probably null
R7183:Dnah17	UTSW	11	118129188	missense	probably benign
R7297:Dnah17	UTSW	11	118055730	critical splice donor site	probably null
R7297:Dnah17	UTSW	11	118103356	missense	probably damaging	0.98
R7367:Dnah17	UTSW	11	118115196	missense	probably benign
R7398:Dnah17	UTSW	11	118080724	missense	probably damaging	0.96
R7426:Dnah17	UTSW	11	118090717	missense	probably null	0.79
R7524:Dnah17	UTSW	11	118121481	missense	probably benign	0.03
R7529:Dnah17	UTSW	11	118049866	critical splice donor site	probably null
R7615:Dnah17	UTSW	11	118110547	nonsense	probably null
R7681:Dnah17	UTSW	11	118025186	missense	probably damaging	1.00
R7702:Dnah17	UTSW	11	118025640	missense	probably benign	0.00
R7702:Dnah17	UTSW	11	118121478	missense	possibly damaging	0.64
R7713:Dnah17	UTSW	11	118025171	missense	probably benign	0.02
R7809:Dnah17	UTSW	11	118104636	missense	probably benign	0.09
R7842:Dnah17	UTSW	11	118079682	critical splice acceptor site	probably null
R7935:Dnah17	UTSW	11	118127222	missense	probably benign	0.20
R7951:Dnah17	UTSW	11	118118766	missense	possibly damaging	0.64
R8070:Dnah17	UTSW	11	118024671	missense	probably damaging	0.97
R8098:Dnah17	UTSW	11	118050367	missense	probably damaging	1.00
R8101:Dnah17	UTSW	11	118125918	missense	probably benign
R8177:Dnah17	UTSW	11	118128927	missense	possibly damaging	0.60
R8343:Dnah17	UTSW	11	118114195	missense	probably benign
R8350:Dnah17	UTSW	11	118087047	missense	probably damaging	0.98
R8393:Dnah17	UTSW	11	118057029	missense	probably damaging	1.00
R8401:Dnah17	UTSW	11	118024659	missense	probably damaging	0.96
R8418:Dnah17	UTSW	11	118103458	missense	probably benign	0.01
R8450:Dnah17	UTSW	11	118087047	missense	probably damaging	0.98
R8546:Dnah17	UTSW	11	118124275	missense	probably benign	0.00
R8697:Dnah17	UTSW	11	118086159	missense	possibly damaging	0.96
R8710:Dnah17	UTSW	11	118042147	missense	probably damaging	1.00
R8713:Dnah17	UTSW	11	118088202	missense	probably damaging	1.00
R8722:Dnah17	UTSW	11	118070457	nonsense	probably null
R8797:Dnah17	UTSW	11	118101375	missense	probably benign	0.00
R8953:Dnah17	UTSW	11	118125412	splice site	probably benign
R8965:Dnah17	UTSW	11	118024666	missense	probably damaging	1.00
R8976:Dnah17	UTSW	11	118026840	missense	probably damaging	1.00
R9090:Dnah17	UTSW	11	118041044	missense	probably damaging	1.00
R9128:Dnah17	UTSW	11	118046178	missense	possibly damaging	0.76
R9134:Dnah17	UTSW	11	118088146	missense	probably damaging	1.00
R9245:Dnah17	UTSW	11	118125677	missense	probably benign	0.02
R9251:Dnah17	UTSW	11	118121792	missense	probably benign	0.03
R9271:Dnah17	UTSW	11	118041044	missense	probably damaging	1.00
R9367:Dnah17	UTSW	11	118096638	missense	possibly damaging	0.95
R9367:Dnah17	UTSW	11	118121386	missense	possibly damaging	0.93
R9381:Dnah17	UTSW	11	118023393	missense	probably benign
R9405:Dnah17	UTSW	11	118118911	missense	probably benign
R9449:Dnah17	UTSW	11	118096626	missense	probably benign	0.07
R9517:Dnah17	UTSW	11	118024614	missense	possibly damaging	0.76
R9588:Dnah17	UTSW	11	118121957	missense	probably benign	0.00
R9629:Dnah17	UTSW	11	118088978	missense	probably damaging	1.00
R9654:Dnah17	UTSW	11	118036330	critical splice donor site	probably null
R9655:Dnah17	UTSW	11	118080823	missense	possibly damaging	0.94
R9662:Dnah17	UTSW	11	118034340	missense	probably damaging	0.97
R9686:Dnah17	UTSW	11	118088222	missense	possibly damaging	0.46
R9689:Dnah17	UTSW	11	118072905	missense	probably damaging	1.00
R9706:Dnah17	UTSW	11	118126200	missense	probably damaging	1.00
X0058:Dnah17	UTSW	11	118082925	missense	probably damaging	1.00
Z1176:Dnah17	UTSW	11	118127166	missense	probably benign	0.01
Z1177:Dnah17	UTSW	11	118078563	missense	possibly damaging	0.91
Z1177:Dnah17	UTSW	11	118086960	missense	probably damaging	1.00
Z1177:Dnah17	UTSW	11	118127142	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGCTGTAAATCACCCC -3'
(R):5'- ATGCATGGCTGCTGCTTCACAC -3'

Sequencing Primer
(F):5'- CATAAGCAGCAGGTTTCACTG -3'
(R):5'- TGCTGCTTCACACAGGATG -3'

Posted On

2014-05-23