Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Zfp592'

374911

Institutional Source

Beutler Lab

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

A730014M16Rik

MMRRC Submission

042476-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4866 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

80643432-80694912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80691607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1262 (V1262E)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107353]

AlphaFold

Q8BHZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000107353
AA Change: V1262E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: V1262E

Domain	Start	End	E-Value	Type
low complexity region	170	180	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	314	333	N/A	INTRINSIC
low complexity region	343	369	N/A	INTRINSIC
low complexity region	484	500	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC
ZnF_C2H2	587	612	8.98e0	SMART
ZnF_C2H2	615	639	2.61e1	SMART
low complexity region	664	686	N/A	INTRINSIC
ZnF_C2H2	711	731	1.24e2	SMART
ZnF_C2H2	740	762	2.82e0	SMART
ZnF_C2H2	768	792	4.99e1	SMART
ZnF_C2H2	799	822	1.73e0	SMART
ZnF_C2H2	827	850	7.89e0	SMART
ZnF_C2H2	892	915	3.89e-3	SMART
low complexity region	924	935	N/A	INTRINSIC
low complexity region	965	979	N/A	INTRINSIC
ZnF_C2H2	983	1006	4.11e-2	SMART
ZnF_C2H2	1013	1036	7.37e-4	SMART
ZnF_C2H2	1043	1069	7.68e0	SMART
ZnF_C2H2	1124	1146	1.51e0	SMART
ZnF_C2H2	1153	1176	1.23e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149508

Meta Mutation Damage Score

0.1053

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Apoa2	T	C	1: 171,053,369 (GRCm39)		probably null	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Dclre1b	A	T	3: 103,715,412 (GRCm39)	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Katnb1	T	C	8: 95,824,132 (GRCm39)	S471P	possibly damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or56a4	T	C	7: 104,806,514 (GRCm39)	Y125C	possibly damaging	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably damaging	Het

Other mutations in Zfp592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Zfp592	APN	7	80,691,296 (GRCm39)	nonsense	probably null
IGL01984:Zfp592	APN	7	80,688,392 (GRCm39)	missense	probably benign	0.00
IGL02079:Zfp592	APN	7	80,688,978 (GRCm39)	missense	probably benign	0.20
IGL02096:Zfp592	APN	7	80,674,796 (GRCm39)	missense	probably damaging	1.00
IGL02125:Zfp592	APN	7	80,687,932 (GRCm39)	missense	probably benign	0.00
IGL02374:Zfp592	APN	7	80,674,731 (GRCm39)	missense	probably damaging	1.00
IGL02419:Zfp592	APN	7	80,687,993 (GRCm39)	missense	probably damaging	1.00
IGL02466:Zfp592	APN	7	80,673,746 (GRCm39)	missense	probably damaging	1.00
IGL02485:Zfp592	APN	7	80,687,718 (GRCm39)	splice site	probably benign
IGL02500:Zfp592	APN	7	80,691,474 (GRCm39)	missense	probably benign
IGL02876:Zfp592	APN	7	80,687,875 (GRCm39)	missense	probably benign	0.01
IGL02940:Zfp592	APN	7	80,674,575 (GRCm39)	missense	probably damaging	1.00
R0326:Zfp592	UTSW	7	80,674,637 (GRCm39)	missense	possibly damaging	0.83
R0634:Zfp592	UTSW	7	80,687,819 (GRCm39)	missense	probably damaging	1.00
R0684:Zfp592	UTSW	7	80,687,623 (GRCm39)	missense	probably benign	0.00
R0750:Zfp592	UTSW	7	80,674,493 (GRCm39)	missense	probably benign
R1346:Zfp592	UTSW	7	80,687,812 (GRCm39)	missense	possibly damaging	0.54
R1457:Zfp592	UTSW	7	80,674,227 (GRCm39)	missense	probably damaging	0.99
R1650:Zfp592	UTSW	7	80,687,848 (GRCm39)	missense	probably benign	0.04
R1804:Zfp592	UTSW	7	80,673,443 (GRCm39)	missense	probably damaging	1.00
R1918:Zfp592	UTSW	7	80,687,168 (GRCm39)	nonsense	probably null
R2114:Zfp592	UTSW	7	80,674,544 (GRCm39)	missense	probably damaging	1.00
R2144:Zfp592	UTSW	7	80,687,950 (GRCm39)	missense	probably benign	0.01
R2164:Zfp592	UTSW	7	80,691,186 (GRCm39)	missense	possibly damaging	0.87
R2246:Zfp592	UTSW	7	80,691,361 (GRCm39)	missense	possibly damaging	0.91
R3701:Zfp592	UTSW	7	80,687,159 (GRCm39)	nonsense	probably null
R3809:Zfp592	UTSW	7	80,674,280 (GRCm39)	missense	probably benign	0.00
R4574:Zfp592	UTSW	7	80,673,534 (GRCm39)	missense	possibly damaging	0.87
R5023:Zfp592	UTSW	7	80,674,095 (GRCm39)	missense	probably damaging	1.00
R5121:Zfp592	UTSW	7	80,673,309 (GRCm39)	missense	probably damaging	1.00
R5174:Zfp592	UTSW	7	80,688,073 (GRCm39)	missense	probably damaging	1.00
R5794:Zfp592	UTSW	7	80,674,781 (GRCm39)	missense	probably benign	0.00
R5946:Zfp592	UTSW	7	80,687,645 (GRCm39)	missense	possibly damaging	0.95
R6312:Zfp592	UTSW	7	80,673,184 (GRCm39)	missense	probably benign	0.05
R6657:Zfp592	UTSW	7	80,675,234 (GRCm39)	missense	possibly damaging	0.49
R6814:Zfp592	UTSW	7	80,673,576 (GRCm39)	missense	probably benign	0.02
R6872:Zfp592	UTSW	7	80,673,576 (GRCm39)	missense	probably benign	0.02
R7056:Zfp592	UTSW	7	80,673,067 (GRCm39)	missense	probably damaging	1.00
R7295:Zfp592	UTSW	7	80,674,070 (GRCm39)	missense	probably damaging	1.00
R7351:Zfp592	UTSW	7	80,691,439 (GRCm39)	missense	probably benign	0.00
R7475:Zfp592	UTSW	7	80,673,200 (GRCm39)	missense	probably damaging	0.99
R7509:Zfp592	UTSW	7	80,688,088 (GRCm39)	missense	probably damaging	0.99
R7552:Zfp592	UTSW	7	80,673,390 (GRCm39)	missense	probably benign	0.01
R7737:Zfp592	UTSW	7	80,674,941 (GRCm39)	missense	probably damaging	1.00
R7752:Zfp592	UTSW	7	80,674,469 (GRCm39)	missense	probably benign	0.13
R7901:Zfp592	UTSW	7	80,674,469 (GRCm39)	missense	probably benign	0.13
R8100:Zfp592	UTSW	7	80,673,940 (GRCm39)	missense	probably benign	0.05
R8440:Zfp592	UTSW	7	80,691,271 (GRCm39)	missense	possibly damaging	0.89
R8710:Zfp592	UTSW	7	80,673,321 (GRCm39)	missense	probably damaging	1.00
R8766:Zfp592	UTSW	7	80,674,353 (GRCm39)	missense	probably benign	0.00
R9083:Zfp592	UTSW	7	80,674,644 (GRCm39)	missense	possibly damaging	0.95
R9141:Zfp592	UTSW	7	80,674,205 (GRCm39)	missense	probably damaging	1.00
R9194:Zfp592	UTSW	7	80,674,349 (GRCm39)	missense	probably benign
R9197:Zfp592	UTSW	7	80,674,067 (GRCm39)	missense	possibly damaging	0.73
R9246:Zfp592	UTSW	7	80,691,529 (GRCm39)	missense	probably benign	0.03
R9321:Zfp592	UTSW	7	80,691,226 (GRCm39)	missense	possibly damaging	0.65
R9426:Zfp592	UTSW	7	80,674,205 (GRCm39)	missense	probably damaging	1.00
R9785:Zfp592	UTSW	7	80,673,245 (GRCm39)	missense	probably damaging	1.00
X0022:Zfp592	UTSW	7	80,687,935 (GRCm39)	nonsense	probably null
X0028:Zfp592	UTSW	7	80,673,762 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCGCCACCTGTTCATAGTC -3'
(R):5'- GCTGTGAAGAATTCTGGGTGAC -3'

Sequencing Primer
(F):5'- CCTGTTCATAGTCCACAAAGTGAGAG -3'
(R):5'- ATAGACACTGCTCCAGAG -3'

Posted On

2016-03-17