Mutagenetix > Incidental Mutation

Incidental Mutation 'R9411:Socs5'

711830

Institutional Source

Beutler Lab

Gene Symbol

Socs5

Ensembl Gene

ENSMUSG00000037104

Gene Name

suppressor of cytokine signaling 5

Synonyms

SOCS-5, Cish5, 1810018L08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87415107-87445267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87442521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 487 (I487T)

Ref Sequence

ENSEMBL: ENSMUSP00000038591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041369]

AlphaFold

O54928

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041369
AA Change: I487T

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038591
Gene: ENSMUSG00000037104
AA Change: I487T

Domain	Start	End	E-Value	Type
Pfam:SOCS	145	197	8.4e-20	PFAM
low complexity region	258	270	N/A	INTRINSIC
SH2	379	465	4.59e-18	SMART
SOCS	475	518	1.65e-19	SMART
SOCS_box	481	517	3.74e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable and fertile with normal immune system morphology and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,919,919 (GRCm39)	A285T	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg7	T	A	6: 114,690,289 (GRCm39)	M650K	probably benign	Het
B020011L13Rik	G	A	1: 117,729,246 (GRCm39)	G251E	probably benign	Het
Bhlha9	T	C	11: 76,564,018 (GRCm39)	V215A	probably benign	Het
Bmal1	C	A	7: 112,907,837 (GRCm39)	S513*	probably null	Het
C2cd3	T	C	7: 100,065,704 (GRCm39)	V452A		Het
Cd55	G	A	1: 130,368,114 (GRCm39)	H370Y	probably benign	Het
Col6a1	A	G	10: 76,547,487 (GRCm39)	V662A	unknown	Het
Crocc	A	G	4: 140,749,577 (GRCm39)		probably null	Het
Cspg4b	T	A	13: 113,504,767 (GRCm39)	N1965K		Het
Dnah1	C	T	14: 31,018,256 (GRCm39)	V1421M	probably damaging	Het
Eid3	T	G	10: 82,703,652 (GRCm39)	I371S	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Garem1	C	T	18: 21,369,057 (GRCm39)		probably null	Het
Gcn1	C	T	5: 115,733,098 (GRCm39)	T1045M	possibly damaging	Het
Ggt6	T	A	11: 72,326,560 (GRCm39)	L39H	probably damaging	Het
Glrb	T	C	3: 80,767,610 (GRCm39)		probably null	Het
Gpr171	T	A	3: 59,005,311 (GRCm39)	K155*	probably null	Het
Has2	T	A	15: 56,531,306 (GRCm39)	T470S	possibly damaging	Het
Ighv1-34	C	T	12: 114,815,070 (GRCm39)	V31M	probably damaging	Het
Kdm2a	A	T	19: 4,412,835 (GRCm39)	N50K	probably damaging	Het
Mfsd9	C	T	1: 40,829,692 (GRCm39)	V30M	probably damaging	Het
Msra	A	G	14: 64,471,331 (GRCm39)	I126T	probably benign	Het
Nkd2	G	A	13: 73,969,330 (GRCm39)	L379F	probably benign	Het
Nr2f2	A	C	7: 70,007,525 (GRCm39)	V319G		Het
Ntng2	A	T	2: 29,138,048 (GRCm39)	L2Q	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcnt	T	C	10: 76,258,896 (GRCm39)	E523G	probably damaging	Het
Pllp	C	T	8: 95,402,868 (GRCm39)	A158T	probably benign	Het
Plxna4	A	G	6: 32,159,682 (GRCm39)	S1431P	probably damaging	Het
Pramel16	A	T	4: 143,676,215 (GRCm39)	F296L	probably damaging	Het
Pramel31	A	G	4: 144,089,997 (GRCm39)	I346V	probably benign	Het
Prpf40a	T	C	2: 53,029,200 (GRCm39)	D951G	unknown	Het
Retn	G	A	8: 3,707,378 (GRCm39)	A113T	probably benign	Het
Rexo1	G	T	10: 80,397,248 (GRCm39)	R3S		Het
Rras	T	A	7: 44,669,979 (GRCm39)	I137N	possibly damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Sntb2	A	G	8: 107,737,931 (GRCm39)	D493G	probably damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Suco	T	A	1: 161,666,356 (GRCm39)	I515F	probably damaging	Het
Syn2	T	C	6: 115,231,152 (GRCm39)	V269A	possibly damaging	Het
Tmbim6	T	C	15: 99,304,501 (GRCm39)	L186P	probably damaging	Het
Tmem234	T	C	4: 129,495,988 (GRCm39)	Y57H	probably damaging	Het
Tnik	C	A	3: 28,684,754 (GRCm39)	P861T	probably damaging	Het
Tns1	A	G	1: 73,992,662 (GRCm39)	L45P	probably damaging	Het
Veph1	T	A	3: 65,995,238 (GRCm39)	D671V	possibly damaging	Het
Vwc2l	A	T	1: 70,767,980 (GRCm39)	I15F	probably benign	Het
Zdbf2	A	T	1: 63,343,288 (GRCm39)	N556Y	probably damaging	Het
Zfp202	T	A	9: 40,118,878 (GRCm39)	V97D	probably damaging	Het
Zfp800	T	C	6: 28,243,430 (GRCm39)	I512V	possibly damaging	Het
Zkscan2	T	C	7: 123,084,405 (GRCm39)	D573G	probably damaging	Het

Other mutations in Socs5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02426:Socs5	APN	17	87,442,320 (GRCm39)	missense	probably damaging	1.00
IGL02553:Socs5	APN	17	87,442,419 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Socs5	UTSW	17	87,441,044 (GRCm39)	splice site	probably benign
R0909:Socs5	UTSW	17	87,441,201 (GRCm39)	missense	probably benign	0.11
R1595:Socs5	UTSW	17	87,441,623 (GRCm39)	missense	probably damaging	1.00
R2397:Socs5	UTSW	17	87,442,377 (GRCm39)	missense	probably damaging	1.00
R3160:Socs5	UTSW	17	87,442,146 (GRCm39)	missense	probably damaging	1.00
R3162:Socs5	UTSW	17	87,442,146 (GRCm39)	missense	probably damaging	1.00
R5264:Socs5	UTSW	17	87,441,769 (GRCm39)	missense	probably damaging	1.00
R5483:Socs5	UTSW	17	87,442,402 (GRCm39)	missense	probably damaging	1.00
R6604:Socs5	UTSW	17	87,442,553 (GRCm39)	missense	probably damaging	1.00
R7790:Socs5	UTSW	17	87,441,791 (GRCm39)	missense	probably benign	0.03
R8205:Socs5	UTSW	17	87,441,138 (GRCm39)	missense	probably benign	0.01
R9428:Socs5	UTSW	17	87,441,067 (GRCm39)	missense	probably benign
R9456:Socs5	UTSW	17	87,442,266 (GRCm39)	missense	probably damaging	1.00
X0011:Socs5	UTSW	17	87,442,368 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTACCTCTTCTCTGTGAGC -3'
(R):5'- GAGCAGACTTAGTTAGTGCCC -3'

Sequencing Primer
(F):5'- GCTACAACAGGTCTCTGCACG -3'
(R):5'- CCTTTGGGGACAGGAGTTAC -3'

Posted On

2022-05-16