Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Zfp532'

295812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp532

Ensembl Gene

ENSMUSG00000042439

Gene Name

zinc finger protein 532

Synonyms

C530030I18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

65580230-65689443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65624042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 349 (S349P)

Ref Sequence

ENSEMBL: ENSMUSP00000138315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000182852] [ENSMUST00000182973] [ENSMUST00000182979] [ENSMUST00000183319] [ENSMUST00000183236] [ENSMUST00000183326]

AlphaFold

Q6NXK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049016
AA Change: S349P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: S349P

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	784	807	1.25e-1	SMART
ZnF_C2H2	814	840	1.43e-1	SMART
low complexity region	860	872	N/A	INTRINSIC
ZnF_C2H2	909	931	1.31e0	SMART
ZnF_C2H2	938	961	9.44e-2	SMART
ZnF_C2H2	999	1021	6.88e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169679
AA Change: S349P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: S349P

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	784	807	1.25e-1	SMART
ZnF_C2H2	814	840	1.43e-1	SMART
low complexity region	860	872	N/A	INTRINSIC
ZnF_C2H2	909	931	1.31e0	SMART
ZnF_C2H2	938	961	9.44e-2	SMART
ZnF_C2H2	999	1021	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182140

Predicted Effect

probably benign
Transcript: ENSMUST00000182319

Predicted Effect

probably damaging
Transcript: ENSMUST00000182478
AA Change: S349P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: S349P

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	780	802	4.34e0	SMART
ZnF_C2H2	808	832	1.55e1	SMART
ZnF_C2H2	839	862	8.94e-3	SMART
ZnF_C2H2	867	890	3.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182655

Predicted Effect

probably benign
Transcript: ENSMUST00000182684

Predicted Effect

probably damaging
Transcript: ENSMUST00000182852
AA Change: S349P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: S349P

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	780	802	4.34e0	SMART
ZnF_C2H2	808	832	1.55e1	SMART
ZnF_C2H2	839	862	8.94e-3	SMART
ZnF_C2H2	867	890	3.78e-1	SMART
ZnF_C2H2	902	924	7.15e-2	SMART
ZnF_C2H2	933	956	1.43e-1	SMART
ZnF_C2H2	1022	1045	4.72e-2	SMART
ZnF_C2H2	1052	1075	1.25e-1	SMART
ZnF_C2H2	1082	1108	1.43e-1	SMART
low complexity region	1128	1140	N/A	INTRINSIC
ZnF_C2H2	1177	1199	1.31e0	SMART
ZnF_C2H2	1206	1229	9.44e-2	SMART
ZnF_C2H2	1267	1289	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182973

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182979
AA Change: S349P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: S349P

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183184

Predicted Effect

probably benign
Transcript: ENSMUST00000183319

Predicted Effect

probably benign
Transcript: ENSMUST00000183236

Predicted Effect

probably benign
Transcript: ENSMUST00000183326

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Zfp532

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02341:Zfp532	APN	18	65624778	missense	probably damaging	1.00
IGL02451:Zfp532	APN	18	65623601	missense	probably damaging	0.96
PIT4151001:Zfp532	UTSW	18	65624414	missense	probably damaging	1.00
R0048:Zfp532	UTSW	18	65644333	missense	probably damaging	1.00
R0076:Zfp532	UTSW	18	65685627	missense	probably benign	0.07
R0095:Zfp532	UTSW	18	65624784	missense	probably damaging	1.00
R0239:Zfp532	UTSW	18	65682985	missense	possibly damaging	0.63
R0239:Zfp532	UTSW	18	65682985	missense	possibly damaging	0.63
R0539:Zfp532	UTSW	18	65623766	missense	probably benign	0.04
R0948:Zfp532	UTSW	18	65623818	missense	probably damaging	1.00
R1447:Zfp532	UTSW	18	65624990	missense	probably damaging	1.00
R1645:Zfp532	UTSW	18	65687264	missense	probably benign	0.26
R1749:Zfp532	UTSW	18	65623484	missense	possibly damaging	0.83
R1797:Zfp532	UTSW	18	65625144	missense	probably benign	0.04
R1934:Zfp532	UTSW	18	65685611	missense	probably damaging	0.97
R1959:Zfp532	UTSW	18	65624492	missense	probably damaging	0.99
R2153:Zfp532	UTSW	18	65624927	missense	possibly damaging	0.93
R2280:Zfp532	UTSW	18	65624712	missense	probably damaging	0.96
R2281:Zfp532	UTSW	18	65624712	missense	probably damaging	0.96
R2847:Zfp532	UTSW	18	65656626	missense	possibly damaging	0.79
R2848:Zfp532	UTSW	18	65656626	missense	possibly damaging	0.79
R4483:Zfp532	UTSW	18	65656565	missense	probably benign	0.02
R4938:Zfp532	UTSW	18	65623766	missense	probably benign
R4947:Zfp532	UTSW	18	65625066	missense	possibly damaging	0.46
R5714:Zfp532	UTSW	18	65623535	missense	possibly damaging	0.93
R5920:Zfp532	UTSW	18	65644350	missense	probably benign
R6035:Zfp532	UTSW	18	65623934	missense	possibly damaging	0.95
R6035:Zfp532	UTSW	18	65623934	missense	possibly damaging	0.95
R6092:Zfp532	UTSW	18	65644210	missense	probably damaging	1.00
R6170:Zfp532	UTSW	18	65624438	missense	probably damaging	0.97
R6180:Zfp532	UTSW	18	65656471	missense	probably benign
R6889:Zfp532	UTSW	18	65686990	missense	possibly damaging	0.66
R7039:Zfp532	UTSW	18	65638763	missense	probably benign	0.44
R7095:Zfp532	UTSW	18	65682898	missense	probably benign
R7313:Zfp532	UTSW	18	65623005	missense	probably damaging	1.00
R7400:Zfp532	UTSW	18	65638913	missense	possibly damaging	0.52
R7882:Zfp532	UTSW	18	65623490	missense	probably benign
R8026:Zfp532	UTSW	18	65625156	missense	possibly damaging	0.66
R8444:Zfp532	UTSW	18	65624259	missense	possibly damaging	0.85
R8477:Zfp532	UTSW	18	65624066	missense	probably damaging	1.00
R8544:Zfp532	UTSW	18	65625156	missense	possibly damaging	0.84
R8890:Zfp532	UTSW	18	65624333	missense	probably damaging	1.00
R8920:Zfp532	UTSW	18	65687319	missense	probably benign	0.17
R9334:Zfp532	UTSW	18	65623057	missense	probably damaging	1.00
R9421:Zfp532	UTSW	18	65624237	missense	probably benign	0.04
R9439:Zfp532	UTSW	18	65685643	missense	probably benign	0.00
R9472:Zfp532	UTSW	18	65623553	nonsense	probably null
R9477:Zfp532	UTSW	18	65644357	missense	probably benign	0.01
R9616:Zfp532	UTSW	18	65656568	missense	probably benign	0.35
R9653:Zfp532	UTSW	18	65623237	missense	possibly damaging	0.83
R9739:Zfp532	UTSW	18	65624823	missense	probably benign	0.30

Posted On

2015-04-16