Mutagenetix > Incidental Mutation

Incidental Mutation 'R0703:Socs4'

63918

Institutional Source

Beutler Lab

Gene Symbol

Socs4

Ensembl Gene

ENSMUSG00000048379

Gene Name

suppressor of cytokine signaling 4

Synonyms

Socs7, 3110032M18Rik, A730004F22Rik

MMRRC Submission

038886-MU

Accession Numbers

Essential gene?

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

Stock #

R0703 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

47514388-47533559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47527505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 147 (H147Y)

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: H147Y

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

SMART Domains

Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
AA Change: H147Y

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	T	13: 104,489,355 (GRCm39)	H403Y	probably damaging	Het
Cfap70	T	A	14: 20,489,783 (GRCm39)	I248F	probably damaging	Het
Gpam	A	G	19: 55,061,188 (GRCm39)	Y775H	probably benign	Het
Hpgd	T	C	8: 56,748,074 (GRCm39)	V65A	probably damaging	Het
Lair1	A	T	7: 4,013,759 (GRCm39)	C163S	probably null	Het
Ldhb	C	T	6: 142,441,327 (GRCm39)	G188R	probably damaging	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Serpinb9b	C	A	13: 33,216,964 (GRCm39)	N78K	probably benign	Het
Utp23	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	15: 51,745,752 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- GGCCGATCCCTTAAACAGAAACTGC -3'
(R):5'- GCTGCATATTTGTCCATGACACCCC -3'

Sequencing Primer
(F):5'- TCCCTTAAACAGAAACTGCAAGATG -3'
(R):5'- TTATGTGACCACCTGTACACGAAG -3'

Posted On

2013-07-30