Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Socs4'

184641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Socs4

Ensembl Gene

ENSMUSG00000048379

Gene Name

suppressor of cytokine signaling 4

Synonyms

Socs7, 3110032M18Rik, A730004F22Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

47514388-47533559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47527650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 195 (I195T)

Ref Sequence

ENSEMBL: ENSMUSP00000066031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065562] [ENSMUST00000227413]

AlphaFold

Q91ZA6

Predicted Effect

probably benign
Transcript: ENSMUST00000065562
AA Change: I195T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
AA Change: I195T

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
Pfam:SOCS	55	108	6.8e-23	PFAM
low complexity region	219	232	N/A	INTRINSIC
SH2	281	367	1.11e-16	SMART
SOCS	377	420	1.69e-16	SMART
SOCS_box	383	419	1.13e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227413

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Socs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Socs4	APN	14	47,527,709 (GRCm39)	missense	probably benign
IGL01942:Socs4	APN	14	47,528,107 (GRCm39)	nonsense	probably null
IGL02117:Socs4	APN	14	47,528,264 (GRCm39)	missense	probably damaging	1.00
R0281:Socs4	UTSW	14	47,527,325 (GRCm39)	missense	probably benign	0.25
R0703:Socs4	UTSW	14	47,527,505 (GRCm39)	missense	probably damaging	1.00
R0763:Socs4	UTSW	14	47,528,112 (GRCm39)	missense	probably damaging	1.00
R0842:Socs4	UTSW	14	47,527,426 (GRCm39)	missense	probably damaging	0.98
R1133:Socs4	UTSW	14	47,527,651 (GRCm39)	missense	probably benign	0.01
R1280:Socs4	UTSW	14	47,528,370 (GRCm39)	missense	probably benign	0.23
R1619:Socs4	UTSW	14	47,527,740 (GRCm39)	missense	possibly damaging	0.87
R1632:Socs4	UTSW	14	47,527,034 (GRCm39)	start gained	probably benign
R5058:Socs4	UTSW	14	47,527,589 (GRCm39)	nonsense	probably null
R6008:Socs4	UTSW	14	47,527,618 (GRCm39)	missense	probably damaging	0.98
R6648:Socs4	UTSW	14	47,527,633 (GRCm39)	missense	probably benign	0.02
R6925:Socs4	UTSW	14	47,527,195 (GRCm39)	nonsense	probably null
R7408:Socs4	UTSW	14	47,527,296 (GRCm39)	missense	probably benign	0.00
R9162:Socs4	UTSW	14	47,528,301 (GRCm39)	missense	probably damaging	0.99
R9234:Socs4	UTSW	14	47,527,716 (GRCm39)	missense	probably benign	0.00
R9428:Socs4	UTSW	14	47,528,034 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07