Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01984:Zfp592'

181832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL01984

Quality Score

Status

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81038644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1039 (V1039A)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

AlphaFold

Q8BHZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: V1039A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: V1039A

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	T	3: 90,063,230	L24F	probably benign	Het
Adamts16	T	C	13: 70,787,147	D442G	probably damaging	Het
Ankmy1	T	C	1: 92,883,765	T634A	probably damaging	Het
Anxa3	A	T	5: 96,834,771		probably benign	Het
Ccnh	T	C	13: 85,206,151	L202P	probably damaging	Het
Clcn3	A	T	8: 60,929,580	S325T	probably damaging	Het
Clec2d	A	T	6: 129,184,229	E96D	possibly damaging	Het
Csn1s1	A	T	5: 87,676,510		probably benign	Het
Dcun1d5	T	A	9: 7,205,307	Y189N	possibly damaging	Het
Dnah7a	T	C	1: 53,702,015		probably null	Het
Erg	T	G	16: 95,409,927	D15A	probably damaging	Het
Gm11639	T	A	11: 104,738,308	D937E	probably benign	Het
Gm17018	C	T	19: 45,577,030	H148Y	probably benign	Het
Gm21759	T	A	5: 8,180,547		probably benign	Het
Heatr5b	C	T	17: 78,796,497	R1083Q	possibly damaging	Het
Ints3	A	G	3: 90,392,226	S1012P	possibly damaging	Het
Klhl3	C	T	13: 58,011,243		probably benign	Het
Lama4	T	A	10: 39,075,529		probably null	Het
Magi1	A	T	6: 93,708,174	V740D	probably damaging	Het
Nme8	C	A	13: 19,688,980	V165L	probably damaging	Het
Odf2l	G	T	3: 145,139,829	E5*	probably null	Het
Olfr115	T	C	17: 37,623,661		probably benign	Het
Olfr1297	A	G	2: 111,621,582	L164S	probably benign	Het
Olfr683	A	T	7: 105,143,716	D192E	probably benign	Het
Pcnx4	T	C	12: 72,574,409	V1001A	probably benign	Het
Plaa	A	G	4: 94,571,685		probably null	Het
Prkdc	G	A	16: 15,708,779	A1305T	probably benign	Het
Rnps1	T	C	17: 24,424,397		probably benign	Het
St8sia5	T	C	18: 77,248,461	F197L	probably benign	Het
Sult3a1	G	T	10: 33,879,209	G257*	probably null	Het
Svep1	A	C	4: 58,068,877	Y2970D	possibly damaging	Het
Tns3	G	T	11: 8,548,992	Y30*	probably null	Het
Ubr1	G	T	2: 120,921,386	P791T	probably damaging	Het

Other mutations in Zfp592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Zfp592	APN	7	81041548	nonsense	probably null
IGL02079:Zfp592	APN	7	81039230	missense	probably benign	0.20
IGL02096:Zfp592	APN	7	81025048	missense	probably damaging	1.00
IGL02125:Zfp592	APN	7	81038184	missense	probably benign	0.00
IGL02374:Zfp592	APN	7	81024983	missense	probably damaging	1.00
IGL02419:Zfp592	APN	7	81038245	missense	probably damaging	1.00
IGL02466:Zfp592	APN	7	81023998	missense	probably damaging	1.00
IGL02485:Zfp592	APN	7	81037970	splice site	probably benign
IGL02500:Zfp592	APN	7	81041726	missense	probably benign
IGL02876:Zfp592	APN	7	81038127	missense	probably benign	0.01
IGL02940:Zfp592	APN	7	81024827	missense	probably damaging	1.00
R0326:Zfp592	UTSW	7	81024889	missense	possibly damaging	0.83
R0634:Zfp592	UTSW	7	81038071	missense	probably damaging	1.00
R0684:Zfp592	UTSW	7	81037875	missense	probably benign	0.00
R0750:Zfp592	UTSW	7	81024745	missense	probably benign
R1346:Zfp592	UTSW	7	81038064	missense	possibly damaging	0.54
R1457:Zfp592	UTSW	7	81024479	missense	probably damaging	0.99
R1650:Zfp592	UTSW	7	81038100	missense	probably benign	0.04
R1804:Zfp592	UTSW	7	81023695	missense	probably damaging	1.00
R1918:Zfp592	UTSW	7	81037420	nonsense	probably null
R2114:Zfp592	UTSW	7	81024796	missense	probably damaging	1.00
R2144:Zfp592	UTSW	7	81038202	missense	probably benign	0.01
R2164:Zfp592	UTSW	7	81041438	missense	possibly damaging	0.87
R2246:Zfp592	UTSW	7	81041613	missense	possibly damaging	0.91
R3701:Zfp592	UTSW	7	81037411	nonsense	probably null
R3809:Zfp592	UTSW	7	81024532	missense	probably benign	0.00
R4574:Zfp592	UTSW	7	81023786	missense	possibly damaging	0.87
R4866:Zfp592	UTSW	7	81041859	missense	probably damaging	1.00
R5023:Zfp592	UTSW	7	81024347	missense	probably damaging	1.00
R5121:Zfp592	UTSW	7	81023561	missense	probably damaging	1.00
R5174:Zfp592	UTSW	7	81038325	missense	probably damaging	1.00
R5794:Zfp592	UTSW	7	81025033	missense	probably benign	0.00
R5946:Zfp592	UTSW	7	81037897	missense	possibly damaging	0.95
R6312:Zfp592	UTSW	7	81023436	missense	probably benign	0.05
R6657:Zfp592	UTSW	7	81025486	missense	possibly damaging	0.49
R6814:Zfp592	UTSW	7	81023828	missense	probably benign	0.02
R6872:Zfp592	UTSW	7	81023828	missense	probably benign	0.02
R7056:Zfp592	UTSW	7	81023319	missense	probably damaging	1.00
R7295:Zfp592	UTSW	7	81024322	missense	probably damaging	1.00
R7351:Zfp592	UTSW	7	81041691	missense	probably benign	0.00
R7475:Zfp592	UTSW	7	81023452	missense	probably damaging	0.99
R7509:Zfp592	UTSW	7	81038340	missense	probably damaging	0.99
R7552:Zfp592	UTSW	7	81023642	missense	probably benign	0.01
R7737:Zfp592	UTSW	7	81025193	missense	probably damaging	1.00
R7752:Zfp592	UTSW	7	81024721	missense	probably benign	0.13
R7901:Zfp592	UTSW	7	81024721	missense	probably benign	0.13
R8100:Zfp592	UTSW	7	81024192	missense	probably benign	0.05
R8440:Zfp592	UTSW	7	81041523	missense	possibly damaging	0.89
R8710:Zfp592	UTSW	7	81023573	missense	probably damaging	1.00
R8766:Zfp592	UTSW	7	81024605	missense	probably benign	0.00
R9083:Zfp592	UTSW	7	81024896	missense	possibly damaging	0.95
R9141:Zfp592	UTSW	7	81024457	missense	probably damaging	1.00
R9194:Zfp592	UTSW	7	81024601	missense	probably benign
R9197:Zfp592	UTSW	7	81024319	missense	possibly damaging	0.73
R9246:Zfp592	UTSW	7	81041781	missense	probably benign	0.03
R9321:Zfp592	UTSW	7	81041478	missense	possibly damaging	0.65
R9426:Zfp592	UTSW	7	81024457	missense	probably damaging	1.00
R9785:Zfp592	UTSW	7	81023497	missense	probably damaging	1.00
X0022:Zfp592	UTSW	7	81038187	nonsense	probably null
X0028:Zfp592	UTSW	7	81024014	missense	probably damaging	1.00

Posted On

2014-05-07