Mutagenetix > Incidental Mutations

Incidental Mutation 'R7325:Zfp536'

568818

Institutional Source

Beutler Lab

Gene Symbol

Zfp536

Ensembl Gene

ENSMUSG00000043456

Gene Name

zinc finger protein 536

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37472135-37773641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37479860 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1107 (T1107A)

Ref Sequence

ENSEMBL: ENSMUSP00000058468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056338] [ENSMUST00000175941] [ENSMUST00000176114] [ENSMUST00000176129] [ENSMUST00000176205]

Predicted Effect

probably benign
Transcript: ENSMUST00000056338
AA Change: T1107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: T1107A

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
Pfam:zf-C2H2_assoc	657	739	6.6e-43	PFAM
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175941
AA Change: T1107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: T1107A

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
low complexity region	716	725	N/A	INTRINSIC
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176114
AA Change: T1107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: T1107A

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
low complexity region	716	725	N/A	INTRINSIC
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176129
AA Change: T43A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
AA Change: T43A

Domain	Start	End	E-Value	Type
low complexity region	134	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176205
AA Change: T1107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: T1107A

Domain	Start	End	E-Value	Type
ZnF_C2H2	130	152	5.14e-3	SMART
ZnF_C2H2	158	180	8.47e-4	SMART
low complexity region	193	205	N/A	INTRINSIC
ZnF_C2H2	274	297	1.03e-2	SMART
ZnF_C2H2	300	323	4.4e-2	SMART
ZnF_C2H2	345	367	3.69e-4	SMART
ZnF_C2H2	373	395	1.26e-2	SMART
ZnF_C2H2	631	653	2.91e-2	SMART
low complexity region	716	725	N/A	INTRINSIC
ZnF_C2H2	753	775	6.78e-3	SMART
ZnF_C2H2	781	803	7.26e-3	SMART
low complexity region	928	941	N/A	INTRINSIC
ZnF_C2H2	1002	1025	7.29e0	SMART
low complexity region	1198	1212	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,532,630	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,736,846	T638A	probably benign	Het
Agtr1a	A	C	13: 30,381,907	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,941,432	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,723,803	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,713,292	L484P	possibly damaging	Het
Astn2	C	T	4: 65,542,669	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213	L290F	probably benign	Het
Boll	T	C	1: 55,304,598	Y222C	probably damaging	Het
Bphl	A	T	13: 34,050,341	I147F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,005,821	M417K	probably benign	Het
Cadps2	T	G	6: 23,409,935	D766A	unknown	Het
Cd300lb	T	A	11: 114,925,032	K210M	probably damaging	Het
Cdan1	T	C	2: 120,724,704	Q797R	probably benign	Het
Celsr1	T	A	15: 86,033,008	S255C	probably damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Dennd5b	T	A	6: 149,020,570	K815N	probably benign	Het
Exd1	A	G	2: 119,520,139	V547A	probably benign	Het
Fbxo15	C	T	18: 84,959,118	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,536,799		probably null	Het
Flg2	T	A	3: 93,203,372	N902K	unknown	Het
Fyttd1	T	A	16: 32,884,248	N76K	probably benign	Het
Gins1	T	A	2: 150,916,166	D57E	probably benign	Het
Gm5565	G	C	5: 146,158,361		probably null	Het
Gm6614	T	C	6: 141,989,225	K379E	probably damaging	Het
Gpsm2	T	C	3: 108,702,928	Y72C	probably damaging	Het
Hace1	C	A	10: 45,589,507	S53*	probably null	Het
Insig2	A	G	1: 121,306,937	V188A	possibly damaging	Het
Ism1	T	C	2: 139,757,043	V312A	probably damaging	Het
Jmy	A	T	13: 93,472,743	Y353N	probably damaging	Het
Maats1	T	A	16: 38,321,601		probably null	Het
Maz	A	C	7: 127,025,553	V265G	probably benign	Het
Mtmr14	T	A	6: 113,269,548	I426N	probably damaging	Het
Olfr1054	A	G	2: 86,333,000	S119P	possibly damaging	Het
Olfr1467	A	G	19: 13,364,637	E3G	probably benign	Het
Olfr394	C	T	11: 73,888,275	M32I	probably benign	Het
Pcdhac2	T	A	18: 37,145,360	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,343,387	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Podn	C	T	4: 108,017,702		probably null	Het
Prim1	A	G	10: 128,022,919	D232G	probably null	Het
Prrt1	T	A	17: 34,632,187	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,276,581	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,944,357	V53L	probably benign	Het
Shank2	C	A	7: 144,411,685	P1010Q	probably benign	Het
Slc12a4	C	T	8: 105,955,715	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,645,018	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,712,898	H154Y	probably benign	Het
Slco2a1	T	A	9: 103,085,749		probably null	Het
Snapc3	T	C	4: 83,435,270	I182T	probably benign	Het
Taok2	A	G	7: 126,871,088	V856A	probably benign	Het
Tep1	T	A	14: 50,866,038	N265I	probably damaging	Het
Tespa1	A	T	10: 130,362,041	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,041,484	Q14*	probably null	Het
Trim33	T	C	3: 103,321,636	F353L	possibly damaging	Het
Upp1	T	C	11: 9,134,743	V154A	probably damaging	Het
Usp34	T	C	11: 23,419,052	I1747T		Het
Vmn1r47	T	C	6: 90,022,272	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,303,987	Y81C	probably benign	Het
Ybx2	A	T	11: 69,940,355	T259S	probably benign	Het
Zfp583	C	T	7: 6,316,586	A476T	probably damaging	Het

Other mutations in Zfp536

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Zfp536	APN	7	37567890	missense	probably damaging	0.99
IGL02729:Zfp536	APN	7	37493718	missense	probably damaging	1.00
PIT4453001:Zfp536	UTSW	7	37479757	missense	probably benign	0.08
R0211:Zfp536	UTSW	7	37568449	missense	probably damaging	1.00
R0369:Zfp536	UTSW	7	37567948	missense	probably damaging	1.00
R0504:Zfp536	UTSW	7	37568818	missense	probably damaging	1.00
R0554:Zfp536	UTSW	7	37480819	missense	probably damaging	1.00
R1171:Zfp536	UTSW	7	37569634	missense	probably damaging	1.00
R1462:Zfp536	UTSW	7	37479310	missense	probably damaging	1.00
R1462:Zfp536	UTSW	7	37479310	missense	probably damaging	1.00
R1699:Zfp536	UTSW	7	37569454	missense	probably damaging	1.00
R1817:Zfp536	UTSW	7	37568617	missense	probably damaging	1.00
R1918:Zfp536	UTSW	7	37480199	missense	probably damaging	1.00
R2252:Zfp536	UTSW	7	37479389	missense	probably benign	0.30
R2288:Zfp536	UTSW	7	37480348	missense	probably damaging	0.98
R2509:Zfp536	UTSW	7	37567978	missense	possibly damaging	0.87
R3967:Zfp536	UTSW	7	37473830	makesense	probably null
R4039:Zfp536	UTSW	7	37569550	missense	probably damaging	1.00
R4600:Zfp536	UTSW	7	37568493	missense	probably damaging	1.00
R4706:Zfp536	UTSW	7	37569466	missense	probably damaging	1.00
R4771:Zfp536	UTSW	7	37568884	missense	probably damaging	1.00
R4808:Zfp536	UTSW	7	37479305	missense	probably damaging	1.00
R4945:Zfp536	UTSW	7	37569736	missense	probably damaging	1.00
R5196:Zfp536	UTSW	7	37480760	missense	probably damaging	1.00
R5506:Zfp536	UTSW	7	37568792	missense	probably damaging	1.00
R5816:Zfp536	UTSW	7	37480628	missense	probably damaging	1.00
R6114:Zfp536	UTSW	7	37479736	missense	probably damaging	0.99
R6131:Zfp536	UTSW	7	37569712	missense	probably damaging	1.00
R6156:Zfp536	UTSW	7	37473856	missense	unknown
R6257:Zfp536	UTSW	7	37480405	missense	probably damaging	1.00
R6864:Zfp536	UTSW	7	37568515	missense	probably damaging	1.00
R6975:Zfp536	UTSW	7	37568527	missense	probably damaging	1.00
R6976:Zfp536	UTSW	7	37480403	missense	probably damaging	1.00
R7176:Zfp536	UTSW	7	37480851	critical splice acceptor site	probably null
R7247:Zfp536	UTSW	7	37569206	missense	probably benign	0.04
R7650:Zfp536	UTSW	7	37569692	missense	probably damaging	1.00
R7782:Zfp536	UTSW	7	37568701	missense	probably damaging	1.00
R7827:Zfp536	UTSW	7	37569688	missense	probably damaging	1.00
R8013:Zfp536	UTSW	7	37569610	missense	probably damaging	1.00
R8209:Zfp536	UTSW	7	37568655	missense	probably benign	0.00
R8504:Zfp536	UTSW	7	37480067	missense	probably benign
X0066:Zfp536	UTSW	7	37569781	missense	possibly damaging	0.93
Z1176:Zfp536	UTSW	7	37493812	missense	possibly damaging	0.85
Z1186:Zfp536	UTSW	7	37479560	missense	not run
Z1186:Zfp536	UTSW	7	37480073	missense	not run
Z1186:Zfp536	UTSW	7	37480483	missense	not run
Z1191:Zfp536	UTSW	7	37479560	missense	not run
Z1191:Zfp536	UTSW	7	37480073	missense	not run
Z1191:Zfp536	UTSW	7	37480483	missense	not run

Predicted Primers

PCR Primer
(F):5'- CAGAGGCTTGCTCGTCATTTC -3'
(R):5'- AGCAAGGTCTCTGTACTGCC -3'

Sequencing Primer
(F):5'- AGGAGTCCATGTCCTCGGAG -3'
(R):5'- GTACTGCCTTCCCTACAGTCAAAC -3'

Posted On

2019-09-13