Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Zfp592'

186052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp592

Ensembl Gene

ENSMUSG00000005621

Gene Name

zinc finger protein 592

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

80993681-81045164 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81039230 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1080 (S1080P)

Ref Sequence

ENSEMBL: ENSMUSP00000102976 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107353
AA Change: S1080P

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: S1080P

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Zfp592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Zfp592	APN	7	81041548	nonsense	probably null
IGL01984:Zfp592	APN	7	81038644	missense	probably benign	0.00
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
X0022:Zfp592	UTSW	7	81038187	nonsense	probably null
X0028:Zfp592	UTSW	7	81024014	missense	probably damaging	1.00

Posted On

2014-05-07