Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Zfp532'

15828

Institutional Source

Beutler Lab

Gene Symbol

Zfp532

Ensembl Gene

ENSMUSG00000042439

Gene Name

zinc finger protein 532

Synonyms

C530030I18Rik

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

65713301-65822514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65777404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 887 (Y887C)

Ref Sequence

ENSEMBL: ENSMUSP00000138663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182478] [ENSMUST00000182852]

AlphaFold

Q6NXK2

Predicted Effect

probably benign
Transcript: ENSMUST00000049016

SMART Domains

Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439

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: ENSMUST00000169679

SMART Domains

Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439

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: ENSMUST00000182478
AA Change: Y887C

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

SMART Domains

Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: Y887C

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 damaging
Transcript: ENSMUST00000182852
AA Change: Y887C

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

SMART Domains

Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: Y887C

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

noncoding transcript
Transcript: ENSMUST00000183184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183303

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,140,563 (GRCm39)	I299T	probably benign	Het
Ankrd12	A	G	17: 66,291,798 (GRCm39)	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,537,198 (GRCm39)	S52P	probably benign	Het
Aox1	A	G	1: 58,112,371 (GRCm39)	E715G	probably damaging	Het
Arid1b	T	C	17: 5,364,309 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Btaf1	G	T	19: 36,980,924 (GRCm39)	A1582S	probably benign	Het
Cblif	G	A	19: 11,727,120 (GRCm39)	V110M	possibly damaging	Het
Ccdc184	G	A	15: 98,066,341 (GRCm39)	A49T	probably damaging	Het
Cd109	A	C	9: 78,587,303 (GRCm39)	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,432,244 (GRCm39)	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,601 (GRCm39)	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262 (GRCm39)	Y562*	probably null	Het
Eno4	T	C	19: 58,952,970 (GRCm39)	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,462,275 (GRCm39)		noncoding transcript	Het
Eya2	T	A	2: 165,557,931 (GRCm39)	Y176N	probably damaging	Het
Fat2	G	T	11: 55,200,865 (GRCm39)	H736Q	probably benign	Het
Fgfr2	A	T	7: 129,782,218 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,662,150 (GRCm39)		probably benign	Het
H60b	T	A	10: 22,163,130 (GRCm39)	M235K	probably benign	Het
Hal	T	A	10: 93,334,853 (GRCm39)	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,318,249 (GRCm39)	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,451,417 (GRCm39)	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,023,256 (GRCm39)	T516S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Jmjd4	C	A	11: 59,344,778 (GRCm39)	H244N	probably benign	Het
Klkb1	G	A	8: 45,742,233 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,496,474 (GRCm39)	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,295,971 (GRCm39)	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,021,369 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,192,727 (GRCm39)	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,198,648 (GRCm39)	V380I	possibly damaging	Het
Mroh9	G	A	1: 162,890,056 (GRCm39)	T227M	probably damaging	Het
Mtor	C	T	4: 148,623,338 (GRCm39)	Q2063*	probably null	Het
Ncstn	A	G	1: 171,897,528 (GRCm39)		probably benign	Het
Nek9	T	C	12: 85,348,673 (GRCm39)	T954A	probably benign	Het
Nlrc5	A	T	8: 95,201,284 (GRCm39)	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,661,304 (GRCm39)	S321P	probably benign	Het
Or13c3	C	A	4: 52,856,196 (GRCm39)	A106S	probably damaging	Het
Pkn2	T	C	3: 142,516,588 (GRCm39)	I513V	probably damaging	Het
Pls1	T	C	9: 95,669,116 (GRCm39)	E35G	probably damaging	Het
Polr3a	A	G	14: 24,519,323 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,540,728 (GRCm39)	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,454,939 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,539,764 (GRCm39)	K423E	probably benign	Het
Rbm27	A	G	18: 42,431,529 (GRCm39)	D112G	probably benign	Het
Rbm46	A	T	3: 82,771,537 (GRCm39)	S359R	probably damaging	Het
Rhobtb3	A	T	13: 76,050,364 (GRCm39)	*100R	probably null	Het
Ryr2	T	C	13: 11,610,670 (GRCm39)	E4052G	probably damaging	Het
Sart3	G	T	5: 113,893,458 (GRCm39)	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,416,616 (GRCm39)	F629S	probably damaging	Het
Siglec1	T	C	2: 130,915,317 (GRCm39)	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 58,048,594 (GRCm39)		probably benign	Het
Slc38a10	G	T	11: 120,001,138 (GRCm39)	P561T	probably benign	Het
Slc45a4	A	G	15: 73,477,285 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,558,146 (GRCm39)		probably benign	Het
Son	T	A	16: 91,455,865 (GRCm39)	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,716,340 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,174,269 (GRCm39)	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,393,779 (GRCm39)		probably benign	Het
Tigd2	C	A	6: 59,188,369 (GRCm39)	T412K	possibly damaging	Het
Umodl1	A	T	17: 31,187,451 (GRCm39)	N172Y	probably damaging	Het
Urah	C	T	7: 140,416,665 (GRCm39)	T46I	probably damaging	Het
Usp8	C	T	2: 126,579,809 (GRCm39)	P353L	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,653,504 (GRCm39)	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,365,900 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,569,729 (GRCm39)	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,369,572 (GRCm39)	K650E	probably damaging	Het

Other mutations in Zfp532

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02341:Zfp532	APN	18	65,757,849 (GRCm39)	missense	probably damaging	1.00
IGL02451:Zfp532	APN	18	65,756,672 (GRCm39)	missense	probably damaging	0.96
IGL02496:Zfp532	APN	18	65,757,113 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Zfp532	UTSW	18	65,757,485 (GRCm39)	missense	probably damaging	1.00
R0076:Zfp532	UTSW	18	65,818,698 (GRCm39)	missense	probably benign	0.07
R0095:Zfp532	UTSW	18	65,757,855 (GRCm39)	missense	probably damaging	1.00
R0239:Zfp532	UTSW	18	65,816,056 (GRCm39)	missense	possibly damaging	0.63
R0239:Zfp532	UTSW	18	65,816,056 (GRCm39)	missense	possibly damaging	0.63
R0539:Zfp532	UTSW	18	65,756,837 (GRCm39)	missense	probably benign	0.04
R0948:Zfp532	UTSW	18	65,756,889 (GRCm39)	missense	probably damaging	1.00
R1447:Zfp532	UTSW	18	65,758,061 (GRCm39)	missense	probably damaging	1.00
R1645:Zfp532	UTSW	18	65,820,335 (GRCm39)	missense	probably benign	0.26
R1749:Zfp532	UTSW	18	65,756,555 (GRCm39)	missense	possibly damaging	0.83
R1797:Zfp532	UTSW	18	65,758,215 (GRCm39)	missense	probably benign	0.04
R1934:Zfp532	UTSW	18	65,818,682 (GRCm39)	missense	probably damaging	0.97
R1959:Zfp532	UTSW	18	65,757,563 (GRCm39)	missense	probably damaging	0.99
R2153:Zfp532	UTSW	18	65,757,998 (GRCm39)	missense	possibly damaging	0.93
R2280:Zfp532	UTSW	18	65,757,783 (GRCm39)	missense	probably damaging	0.96
R2281:Zfp532	UTSW	18	65,757,783 (GRCm39)	missense	probably damaging	0.96
R2847:Zfp532	UTSW	18	65,789,697 (GRCm39)	missense	possibly damaging	0.79
R2848:Zfp532	UTSW	18	65,789,697 (GRCm39)	missense	possibly damaging	0.79
R4483:Zfp532	UTSW	18	65,789,636 (GRCm39)	missense	probably benign	0.02
R4938:Zfp532	UTSW	18	65,756,837 (GRCm39)	missense	probably benign
R4947:Zfp532	UTSW	18	65,758,137 (GRCm39)	missense	possibly damaging	0.46
R5714:Zfp532	UTSW	18	65,756,606 (GRCm39)	missense	possibly damaging	0.93
R5920:Zfp532	UTSW	18	65,777,421 (GRCm39)	missense	probably benign
R6035:Zfp532	UTSW	18	65,757,005 (GRCm39)	missense	possibly damaging	0.95
R6035:Zfp532	UTSW	18	65,757,005 (GRCm39)	missense	possibly damaging	0.95
R6092:Zfp532	UTSW	18	65,777,281 (GRCm39)	missense	probably damaging	1.00
R6170:Zfp532	UTSW	18	65,757,509 (GRCm39)	missense	probably damaging	0.97
R6180:Zfp532	UTSW	18	65,789,542 (GRCm39)	missense	probably benign
R6889:Zfp532	UTSW	18	65,820,061 (GRCm39)	missense	possibly damaging	0.66
R7039:Zfp532	UTSW	18	65,771,834 (GRCm39)	missense	probably benign	0.44
R7095:Zfp532	UTSW	18	65,815,969 (GRCm39)	missense	probably benign
R7313:Zfp532	UTSW	18	65,756,076 (GRCm39)	missense	probably damaging	1.00
R7400:Zfp532	UTSW	18	65,771,984 (GRCm39)	missense	possibly damaging	0.52
R7882:Zfp532	UTSW	18	65,756,561 (GRCm39)	missense	probably benign
R8026:Zfp532	UTSW	18	65,758,227 (GRCm39)	missense	possibly damaging	0.66
R8444:Zfp532	UTSW	18	65,757,330 (GRCm39)	missense	possibly damaging	0.85
R8477:Zfp532	UTSW	18	65,757,137 (GRCm39)	missense	probably damaging	1.00
R8544:Zfp532	UTSW	18	65,758,227 (GRCm39)	missense	possibly damaging	0.84
R8890:Zfp532	UTSW	18	65,757,404 (GRCm39)	missense	probably damaging	1.00
R8920:Zfp532	UTSW	18	65,820,390 (GRCm39)	missense	probably benign	0.17
R9334:Zfp532	UTSW	18	65,756,128 (GRCm39)	missense	probably damaging	1.00
R9421:Zfp532	UTSW	18	65,757,308 (GRCm39)	missense	probably benign	0.04
R9439:Zfp532	UTSW	18	65,818,714 (GRCm39)	missense	probably benign	0.00
R9472:Zfp532	UTSW	18	65,756,624 (GRCm39)	nonsense	probably null
R9477:Zfp532	UTSW	18	65,777,428 (GRCm39)	missense	probably benign	0.01
R9616:Zfp532	UTSW	18	65,789,639 (GRCm39)	missense	probably benign	0.35
R9653:Zfp532	UTSW	18	65,756,308 (GRCm39)	missense	possibly damaging	0.83
R9739:Zfp532	UTSW	18	65,757,894 (GRCm39)	missense	probably benign	0.30

Posted On

2013-01-08