Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03064:Socs2'

409612

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Socs2

Ensembl Gene

ENSMUSG00000020027

Gene Name

suppressor of cytokine signaling 2

Synonyms

CIS2, D130043N08Rik, cytokine-inducible SH2 protein 2, STAT-induced STAT inhibitor 2, Cish2, SOCS-2, JAB, SSI-2

Accession Numbers

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

95385362-95417180 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 95412851 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 133 (C133*)

Ref Sequence

ENSEMBL: ENSMUSP00000129331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020215] [ENSMUST00000119917] [ENSMUST00000170690] [ENSMUST00000172070]

Predicted Effect

probably null
Transcript: ENSMUST00000020215
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000020215
Gene: ENSMUSG00000020027
AA Change: C133*

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
SH2	46	135	5.22e-22	SMART
SOCS	154	195	3.15e-16	SMART
SOCS_box	160	194	1.06e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119917
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000113378
Gene: ENSMUSG00000020027
AA Change: C133*

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
SH2	46	135	5.22e-22	SMART
SOCS	154	195	3.15e-16	SMART
SOCS_box	160	194	1.06e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134918

Predicted Effect

probably null
Transcript: ENSMUST00000139210
AA Change: C86*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155148

Predicted Effect

probably null
Transcript: ENSMUST00000170690
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000129331
Gene: ENSMUSG00000020027
AA Change: C133*

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
SH2	46	135	5.22e-22	SMART
SOCS	154	195	3.15e-16	SMART
SOCS_box	160	194	1.06e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172070
AA Change: C133*

SMART Domains

Protein: ENSMUSP00000131875
Gene: ENSMUSG00000020027
AA Change: C133*

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
SH2	46	135	5.22e-22	SMART
SOCS	154	195	3.15e-16	SMART
SOCS_box	160	194	1.06e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181781

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Mutations in this gene cause accelerated postnatal growth. Homozygotes for a targeted mutation also show increased bone growth, enlargement of most organs, collagen deposition in the skin and some ducts and vessels, lower major urinary protein levels, and elevated IGF-I mRNA levels in some tissues.

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,575,641	T210A	probably damaging	Het
Adgb	T	A	10: 10,400,572	T351S	probably benign	Het
Akap9	A	G	5: 3,968,755	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,875,643	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,579,279	F395V	probably damaging	Het
Bub1	T	C	2: 127,817,453	N328S	probably benign	Het
Cacna1s	A	G	1: 136,111,993	N1452D	probably damaging	Het
Cacna2d2	C	A	9: 107,509,275	F200L	probably damaging	Het
Calca	G	A	7: 114,633,684	S110L	probably benign	Het
Ccdc120	G	A	X: 7,735,362	P263S	probably benign	Het
Dgki	C	A	6: 37,149,664			Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
F5	A	T	1: 164,195,594	T1574S	probably benign	Het
Fam227b	T	C	2: 126,126,842		probably null	Het
Gm20521	T	A	14: 54,897,223	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,959,718	I239N	probably benign	Het
Itih1	C	A	14: 30,941,557	E167D	probably benign	Het
Lama1	A	T	17: 67,779,104	Y1446F	possibly damaging	Het
Lama3	C	T	18: 12,439,349	T537M	possibly damaging	Het
Lars	G	T	18: 42,221,571	Y770*	probably null	Het
Lrp2	A	T	2: 69,483,133	V2418E	probably damaging	Het
Maip1	A	G	1: 57,407,200	E143G	probably damaging	Het
Mast4	G	T	13: 102,760,964	S907*	probably null	Het
Mctp1	C	T	13: 76,801,513	Q555*	probably null	Het
Med14	A	T	X: 12,747,503	D291E	probably benign	Het
Mgat2	T	A	12: 69,185,003	V117D	probably damaging	Het
Mllt1	A	T	17: 56,900,094	M250K	probably benign	Het
Myt1	A	C	2: 181,797,801	Y372S	probably benign	Het
Naa16	T	A	14: 79,339,628	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,250,902	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,449,509	K180N	probably benign	Het
Nova1	A	G	12: 46,700,078	V472A	probably damaging	Het
Nup153	T	C	13: 46,693,839	T705A	probably benign	Het
Odf2	T	A	2: 29,901,079	N79K	probably benign	Het
Olfr1303	A	G	2: 111,814,423	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,198,771			Het
Pde8b	G	A	13: 95,046,398	T388I	probably damaging	Het
Pet2	A	G	X: 89,405,251	V424A	possibly damaging	Het
Phactr2	A	G	10: 13,388,713		noncoding transcript	Het
Phf12	T	C	11: 77,983,360	S17P	probably damaging	Het
Psmg2	T	A	18: 67,646,032	L90*	probably null	Het
Ryr2	T	C	13: 11,643,902		probably null	Het
Sec23b	T	C	2: 144,582,032	F534L	probably benign	Het
Sin3b	A	G	8: 72,757,058		noncoding transcript	Het
Slc30a5	A	T	13: 100,811,310	L520Q	probably damaging	Het
Slc35g3	T	C	11: 69,761,069	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,571,466	S538I	probably damaging	Het
Srebf2	G	A	15: 82,192,222	R731H	probably benign	Het
Tlr11	C	A	14: 50,361,100	P181Q	probably damaging	Het
Tlr7	T	A	X: 167,306,207	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,102,273	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,537,566	I778V	possibly damaging	Het
Ttll8	T	C	15: 88,919,594	T385A	probably benign	Het
Vmn1r223	G	A	13: 23,249,983	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,601,010	I241N	possibly damaging	Het
Wdfy3	T	C	5: 101,935,997	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,261,791	S1660C	probably damaging	Het

Other mutations in Socs2

Allele	Source	Chr	Coord	Type	Predicted Effect
samson	UTSW	10	95413081	nonsense	probably null
R1412:Socs2	UTSW	10	95414918	missense	probably benign
R1617:Socs2	UTSW	10	95413081	nonsense	probably null
R1921:Socs2	UTSW	10	95413038	nonsense	probably null
R5261:Socs2	UTSW	10	95392819	missense	noncoding transcript
R5638:Socs2	UTSW	10	95392883	missense	noncoding transcript

Posted On

Aug 02, 2016