Mutagenetix > Incidental Mutation

Incidental Mutation 'R1632:Socs4'

172872

Institutional Source

Beutler Lab

Gene Symbol

Socs4

Ensembl Gene

ENSMUSG00000048379

Gene Name

suppressor of cytokine signaling 4

Synonyms

Socs7, 3110032M18Rik, A730004F22Rik

MMRRC Submission

039669-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R1632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47514388-47533559 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 47527034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154000 (fasta)

Gene Model

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

AlphaFold

Q91ZA6

Predicted Effect

probably benign
Transcript: ENSMUST00000065562

SMART Domains

Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379

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

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap28	A	T	17: 68,156,069 (GRCm39)	Y696N	probably damaging	Het
Cachd1	A	G	4: 100,824,169 (GRCm39)	T537A	probably benign	Het
Capn15	A	T	17: 26,179,639 (GRCm39)	F841Y	probably damaging	Het
Card10	G	A	15: 78,675,420 (GRCm39)	R396*	probably null	Het
Chd9	A	T	8: 91,683,335 (GRCm39)	K592*	probably null	Het
Cyp2j8	T	A	4: 96,335,561 (GRCm39)	H411L	probably benign	Het
Dhcr24	G	T	4: 106,443,148 (GRCm39)	M394I	probably benign	Het
Dhrs3	T	C	4: 144,620,116 (GRCm39)	V11A	probably benign	Het
Dync1li2	A	T	8: 105,164,123 (GRCm39)	I134N	probably damaging	Het
Enpp4	G	T	17: 44,410,544 (GRCm39)	S344Y	probably damaging	Het
Ephb3	T	C	16: 21,031,687 (GRCm39)	S14P	probably benign	Het
Fancm	T	G	12: 65,177,105 (GRCm39)	I1983S	probably damaging	Het
Fndc1	T	C	17: 7,992,032 (GRCm39)	T555A	unknown	Het
Gemin4	A	T	11: 76,101,815 (GRCm39)	M982K	probably benign	Het
Gtpbp2	A	G	17: 46,479,518 (GRCm39)	R590G	probably benign	Het
H2-M3	G	A	17: 37,582,054 (GRCm39)	R170H	probably benign	Het
Hoxa13	G	T	6: 52,236,917 (GRCm39)	N278K	probably damaging	Het
Hspb3	A	G	13: 113,799,589 (GRCm39)	V147A	probably benign	Het
Il6st	G	T	13: 112,640,866 (GRCm39)	D820Y	possibly damaging	Het
Kdm7a	A	G	6: 39,129,832 (GRCm39)	V448A	probably benign	Het
Kmt2b	T	C	7: 30,283,387 (GRCm39)	D991G	probably damaging	Het
Kri1	T	C	9: 21,193,507 (GRCm39)	D140G	possibly damaging	Het
Limk2	A	G	11: 3,296,250 (GRCm39)	L399P	probably damaging	Het
Lrrc9	T	A	12: 72,506,794 (GRCm39)		probably null	Het
Map2	C	T	1: 66,454,245 (GRCm39)	T1045M	possibly damaging	Het
Map4k5	T	C	12: 69,874,821 (GRCm39)	I321V	probably benign	Het
Minar1	T	A	9: 89,484,413 (GRCm39)	H328L	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh7b	A	G	2: 155,462,445 (GRCm39)	S383G	probably benign	Het
Nhsl3	A	G	4: 129,116,459 (GRCm39)	M735T	possibly damaging	Het
Nostrin	A	G	2: 69,006,078 (GRCm39)	K254R	probably benign	Het
Nphp1	G	T	2: 127,612,312 (GRCm39)	P212T	probably benign	Het
Or5ak20	A	T	2: 85,183,586 (GRCm39)	M228K	possibly damaging	Het
Pals1	T	A	12: 78,843,812 (GRCm39)	Y5*	probably null	Het
Pclo	A	C	5: 14,730,017 (GRCm39)		probably benign	Het
Phf19	G	A	2: 34,801,631 (GRCm39)	R60W	probably damaging	Het
Pou2af2	T	C	9: 51,201,702 (GRCm39)	D118G	probably damaging	Het
Psg18	G	A	7: 18,084,824 (GRCm39)	P91S	probably benign	Het
Rttn	C	T	18: 89,027,460 (GRCm39)	T525I	probably benign	Het
Ryr1	T	C	7: 28,793,686 (GRCm39)	M1268V	probably benign	Het
Slc25a2	T	C	18: 37,770,740 (GRCm39)	E263G	possibly damaging	Het
Slc32a1	C	T	2: 158,455,810 (GRCm39)	A155V	possibly damaging	Het
Slc6a19	A	T	13: 73,838,027 (GRCm39)		probably null	Het
Tas2r118	A	G	6: 23,969,260 (GRCm39)	I267T	probably benign	Het
Tpte	G	A	8: 22,839,363 (GRCm39)	C470Y	probably damaging	Het
Usp17la	A	T	7: 104,510,118 (GRCm39)	H241L	probably benign	Het
Vmn2r72	T	A	7: 85,401,000 (GRCm39)	I140F	probably benign	Het
Zfp329	T	C	7: 12,544,876 (GRCm39)	D216G	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
IGL02039:Socs4	APN	14	47,527,650 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAGACACCTGGGGCTGCCTTAC -3'
(R):5'- AGCTGCCTTTCTTGGCTTCTTAGAG -3'

Sequencing Primer
(F):5'- GGCTGCCTTACAGCGTG -3'
(R):5'- CAGTACCTATGGCTTCAGATTCAG -3'

Posted On

2014-04-24