Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02374:Zfp592'

291034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

A730014M16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL02374

Quality Score

Status

Chromosome

Chromosomal Location

80643432-80694912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80674731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 565 (V565A)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000107353
AA Change: V565A

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

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: V565A

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: ENSMUST00000176477

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,073,003 (GRCm39)	Y35H	probably damaging	Het
Cnksr3	A	G	10: 7,070,335 (GRCm39)	S300P	probably damaging	Het
Col27a1	T	C	4: 63,211,486 (GRCm39)	S1013P	possibly damaging	Het
Cyp39a1	A	G	17: 44,060,872 (GRCm39)		probably benign	Het
Deptor	G	T	15: 55,044,357 (GRCm39)	L174F	probably damaging	Het
Fah	T	C	7: 84,254,909 (GRCm39)	E8G	probably benign	Het
Fastk	C	A	5: 24,649,247 (GRCm39)	A47S	possibly damaging	Het
Foxl2	C	T	9: 98,837,885 (GRCm39)	L58F	probably damaging	Het
Gm57858	T	C	3: 36,074,108 (GRCm39)	Q347R	possibly damaging	Het
Igf2bp2	G	T	16: 21,900,618 (GRCm39)	H106Q	probably benign	Het
Igkv12-47	T	C	6: 69,727,959 (GRCm39)	T71A	probably benign	Het
Ino80d	T	C	1: 63,125,220 (GRCm39)	I81V	possibly damaging	Het
Ints9	G	A	14: 65,276,782 (GRCm39)	E650K	probably benign	Het
Klc2	T	C	19: 5,160,438 (GRCm39)	N408S	possibly damaging	Het
Klhl32	A	T	4: 24,743,856 (GRCm39)		probably null	Het
Ksr1	C	T	11: 78,919,317 (GRCm39)	G504D	probably benign	Het
Lonp2	C	A	8: 87,435,673 (GRCm39)	D636E	probably damaging	Het
Lpin3	G	A	2: 160,737,758 (GRCm39)		probably benign	Het
Mcmdc2	C	T	1: 9,982,207 (GRCm39)	A56V	possibly damaging	Het
Or10al7	A	T	17: 38,366,412 (GRCm39)	V24D	probably damaging	Het
Or4p8	A	T	2: 88,727,803 (GRCm39)	I46N	probably damaging	Het
Pex1	T	C	5: 3,685,481 (GRCm39)	I1163T	probably benign	Het
Ppp1r3a	C	T	6: 14,718,599 (GRCm39)	V772I	probably damaging	Het
Ptbp2	A	T	3: 119,514,342 (GRCm39)		probably benign	Het
Rell1	A	T	5: 64,095,151 (GRCm39)	I105K	possibly damaging	Het
Sis	A	T	3: 72,832,789 (GRCm39)	S1003T	probably benign	Het
Slc26a3	T	A	12: 31,520,832 (GRCm39)		probably benign	Het
Stap1	G	A	5: 86,244,410 (GRCm39)	G264R	probably damaging	Het
Tmem176b	T	C	6: 48,811,560 (GRCm39)	N30D	possibly damaging	Het
Tmprss15	A	T	16: 78,832,056 (GRCm39)	Y367N	probably benign	Het
Ttc41	A	G	10: 86,611,815 (GRCm39)	D1061G	probably damaging	Het
Ufl1	A	C	4: 25,259,237 (GRCm39)	D460E	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Wdfy2	T	C	14: 63,171,833 (GRCm39)	S194P	probably benign	Het
Zfp408	A	C	2: 91,476,156 (GRCm39)	C333G	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
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
R4866:Zfp592	UTSW	7	80,691,607 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16