Mutagenetix > Incidental Mutation

Incidental Mutation 'R0763:Socs4'

72526

Institutional Source

Beutler Lab

Gene Symbol

Socs4

Ensembl Gene

ENSMUSG00000048379

Gene Name

suppressor of cytokine signaling 4

Synonyms

Socs7, 3110032M18Rik, A730004F22Rik

MMRRC Submission

038943-MU

Accession Numbers

Essential gene?

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

Stock #

R0763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47514388-47533559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47528112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 349 (F349S)

Ref Sequence

ENSEMBL: ENSMUSP00000066031 (fasta)

Gene Model

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

AlphaFold

Q91ZA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000065562
AA Change: F349S

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

SMART Domains

Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
AA Change: F349S

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

Meta Mutation Damage Score

0.3823

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

96% (52/54)

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
Abtb1	A	C	6: 88,815,261 (GRCm39)	F290V	probably damaging	Het
Adam26b	G	A	8: 43,973,601 (GRCm39)	S467L	probably damaging	Het
Adgrv1	T	A	13: 81,647,244 (GRCm39)	I3099F	probably damaging	Het
Akap6	A	G	12: 53,188,997 (GRCm39)	D2137G	possibly damaging	Het
Arhgdig	T	C	17: 26,419,275 (GRCm39)	Y48C	probably damaging	Het
Astn1	A	G	1: 158,337,460 (GRCm39)	I389V	possibly damaging	Het
Atp8a1	T	C	5: 67,817,226 (GRCm39)	D920G	probably benign	Het
BC016579	T	A	16: 45,449,818 (GRCm39)	N200I	probably damaging	Het
Casc3	T	C	11: 98,722,144 (GRCm39)	Y661H	probably damaging	Het
Cep120	A	C	18: 53,854,809 (GRCm39)	V442G	probably benign	Het
Cfap65	A	G	1: 74,943,841 (GRCm39)	Y1557H	probably damaging	Het
Chd2	G	T	7: 73,097,022 (GRCm39)	Q1485K	possibly damaging	Het
Cntrl	T	C	2: 35,061,078 (GRCm39)	F1967L	probably benign	Het
Csmd1	G	A	8: 17,077,300 (GRCm39)	T119M	possibly damaging	Het
Dnah9	T	C	11: 66,046,356 (GRCm39)	H64R	probably benign	Het
Ep400	T	C	5: 110,813,703 (GRCm39)	R2899G	probably damaging	Het
Foxl2	A	C	9: 98,838,086 (GRCm39)	T125P	probably damaging	Het
Foxred1	A	T	9: 35,118,769 (GRCm39)		probably null	Het
H2-Eb1	T	A	17: 34,533,133 (GRCm39)		probably benign	Het
Heatr3	T	C	8: 88,884,869 (GRCm39)	S378P	probably damaging	Het
Hectd4	T	C	5: 121,445,096 (GRCm39)		probably benign	Het
Hps3	T	G	3: 20,057,443 (GRCm39)	R780S	probably damaging	Het
Ifi44	G	A	3: 151,455,135 (GRCm39)	A30V	probably damaging	Het
Il12rb1	G	A	8: 71,265,934 (GRCm39)		probably benign	Het
Invs	G	A	4: 48,392,628 (GRCm39)	G281R	possibly damaging	Het
Itgax	C	A	7: 127,747,112 (GRCm39)		probably benign	Het
Jade1	G	T	3: 41,568,218 (GRCm39)	C762F	possibly damaging	Het
Lama1	C	T	17: 68,079,813 (GRCm39)	P1229S	probably damaging	Het
Mmp15	C	A	8: 96,094,856 (GRCm39)	D243E	probably benign	Het
Mug2	A	G	6: 122,052,253 (GRCm39)	T1004A	probably benign	Het
Myh14	A	T	7: 44,314,791 (GRCm39)	V44E	probably damaging	Het
N4bp2l1	C	A	5: 150,517,869 (GRCm39)	R11S	possibly damaging	Het
Notch4	T	A	17: 34,784,306 (GRCm39)	C36*	probably null	Het
Nwd1	A	G	8: 73,397,672 (GRCm39)	D637G	probably damaging	Het
Ogfod1	T	C	8: 94,782,264 (GRCm39)	I238T	probably benign	Het
Pakap	G	A	4: 57,688,441 (GRCm39)	E95K	probably damaging	Het
Papln	A	G	12: 83,838,639 (GRCm39)	D1256G	possibly damaging	Het
Ppp1r26	T	C	2: 28,340,379 (GRCm39)	L3P	probably damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc17a5	A	T	9: 78,460,372 (GRCm39)		probably benign	Het
Slc25a17	A	G	15: 81,207,907 (GRCm39)		probably benign	Het
Spata31f1a	A	G	4: 42,851,238 (GRCm39)	V306A	probably damaging	Het
Tchhl1	A	C	3: 93,378,878 (GRCm39)	E527D	probably benign	Het
Tm7sf3	A	G	6: 146,507,787 (GRCm39)	L425S	possibly damaging	Het
Tmem266	G	T	9: 55,322,239 (GRCm39)	V112L	probably damaging	Het
Tmem30c	T	A	16: 57,090,539 (GRCm39)	I223F	possibly damaging	Het
Tomm70a	G	A	16: 56,942,535 (GRCm39)	G104D	probably benign	Het
Ttc17	G	T	2: 94,163,148 (GRCm39)	A834E	probably benign	Het
Ttn	C	T	2: 76,561,534 (GRCm39)	V20664M	probably damaging	Het
Zbed5	T	C	5: 129,931,020 (GRCm39)	V323A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGGACAAATATGCAGCCGAAGCTC -3'
(R):5'- ACTGCTGCTCTGGCACATCAATC -3'

Sequencing Primer
(F):5'- CTCTGCTGGAAGGAAAGCC -3'
(R):5'- TCTGGCACATCAATCCTGAG -3'

Posted On

2013-09-30