Mutagenetix > Incidental Mutation

Incidental Mutation 'R9602:Socs7'

723745

Institutional Source

Beutler Lab

Gene Symbol

Socs7

Ensembl Gene

ENSMUSG00000038485

Gene Name

suppressor of cytokine signaling 7

Synonyms

Nap4, 2310063P06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9602 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97253261-97289368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97267837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000040896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045540]

AlphaFold

Q8VHQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000045540
AA Change: T323A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040896
Gene: ENSMUSG00000038485
AA Change: T323A

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	54	72	N/A	INTRINSIC
low complexity region	76	104	N/A	INTRINSIC
low complexity region	113	128	N/A	INTRINSIC
low complexity region	136	168	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
low complexity region	298	317	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC
SH2	396	482	1.89e-19	SMART
SOCS	507	550	3.07e-19	SMART
SOCS_box	513	549	7.37e-9	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display partial penetrance of hydroencephaly, premature death, intracranial hemorrhage, abnormally large islets of Langerhans and fully penetrant disorganization of the subcommissural organ and reduced body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,910,261 (GRCm39)	S125L	possibly damaging	Het
Abca3	T	C	17: 24,617,378 (GRCm39)	V1025A	probably benign	Het
Adam5	T	C	8: 25,303,402 (GRCm39)	K175R	probably damaging	Het
Arhgap39	A	C	15: 76,610,954 (GRCm39)	S885R	probably damaging	Het
Arhgef12	A	G	9: 42,895,676 (GRCm39)	Y951H	probably damaging	Het
Bbs1	G	A	19: 4,941,083 (GRCm39)	L544F	probably damaging	Het
Bcar1	C	T	8: 112,440,498 (GRCm39)	E499K	probably benign	Het
Brinp3	C	T	1: 146,622,234 (GRCm39)	T212I	probably damaging	Het
Cdh20	A	T	1: 104,868,823 (GRCm39)	I105F	probably benign	Het
Cenpp	T	C	13: 49,801,049 (GRCm39)	E123G	probably damaging	Het
Col14a1	C	A	15: 55,351,345 (GRCm39)	D1557E	unknown	Het
Col6a3	A	T	1: 90,731,497 (GRCm39)	N1585K	probably benign	Het
Cox6a1	G	A	5: 115,486,934 (GRCm39)	P26S	unknown	Het
Epb41l1	G	T	2: 156,367,068 (GRCm39)	D646Y	probably damaging	Het
Fbxw10	G	T	11: 62,750,782 (GRCm39)	R455L	possibly damaging	Het
Fmnl2	T	C	2: 53,013,587 (GRCm39)		probably null	Het
Gata3	T	A	2: 9,863,297 (GRCm39)	I406F	possibly damaging	Het
Gm14406	C	T	2: 177,261,028 (GRCm39)	G417D	probably damaging	Het
Gpr31b	C	T	17: 13,270,771 (GRCm39)	G133S	possibly damaging	Het
Gtf2h1	T	A	7: 46,456,219 (GRCm39)	D196E	possibly damaging	Het
Hcn2	A	G	10: 79,562,128 (GRCm39)	I375V	probably benign	Het
Kctd20	T	C	17: 29,180,442 (GRCm39)	M72T	probably benign	Het
Klhl2	A	T	8: 65,205,696 (GRCm39)	F408L	probably damaging	Het
Mllt10	T	C	2: 18,211,850 (GRCm39)	V921A	probably damaging	Het
Mn1	A	T	5: 111,565,449 (GRCm39)		probably benign	Het
Mov10	A	T	3: 104,708,284 (GRCm39)	D488E	probably benign	Het
Muc5b	G	T	7: 141,417,211 (GRCm39)	D3386Y	probably benign	Het
Myo15b	G	A	11: 115,769,269 (GRCm39)		probably null	Het
Nudt7	T	C	8: 114,878,499 (GRCm39)	F176L	probably damaging	Het
Obscn	A	G	11: 58,981,385 (GRCm39)	Y1878H	probably damaging	Het
Or6c5b	A	T	10: 129,245,802 (GRCm39)	D189V	probably damaging	Het
Pabpn1l	T	A	8: 123,347,101 (GRCm39)	T250S	probably benign	Het
Prr11	C	T	11: 86,987,998 (GRCm39)	D302N	possibly damaging	Het
Prx	T	A	7: 27,218,445 (GRCm39)	V1121D	possibly damaging	Het
Ptcd1	A	G	5: 145,096,448 (GRCm39)	V215A	probably benign	Het
Rasa3	T	C	8: 13,681,844 (GRCm39)	D35G	probably benign	Het
Rbm5	A	G	9: 107,629,152 (GRCm39)	S348P	probably benign	Het
Rmdn2	G	A	17: 79,975,440 (GRCm39)	G310R	probably damaging	Het
Rnf114	T	A	2: 167,353,162 (GRCm39)	C144*	probably null	Het
Rreb1	T	C	13: 38,114,477 (GRCm39)	I612T	probably damaging	Het
Sdk1	A	T	5: 142,071,353 (GRCm39)	D1181V	probably damaging	Het
Secisbp2l	A	T	2: 125,609,356 (GRCm39)	M324K	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a6	G	T	19: 8,598,560 (GRCm39)	E206*	probably null	Het
Smg5	T	C	3: 88,250,214 (GRCm39)	C109R	probably damaging	Het
Spen	T	C	4: 141,205,183 (GRCm39)	N1148S	unknown	Het
Tek	C	G	4: 94,715,968 (GRCm39)	I463M	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt2b34	T	C	5: 87,054,163 (GRCm39)	D206G	probably damaging	Het
Upk3a	C	T	15: 84,905,464 (GRCm39)	P191L	probably benign	Het
Vmn2r101	T	A	17: 19,831,780 (GRCm39)	L592*	probably null	Het
Vmn2r82	A	G	10: 79,214,880 (GRCm39)	I288V	probably benign	Het
Vmn2r88	T	A	14: 51,651,189 (GRCm39)	S168T		Het
Wnt5a	C	A	14: 28,240,295 (GRCm39)	N148K	probably benign	Het
Yipf5	T	C	18: 40,345,134 (GRCm39)	Y82C	probably damaging	Het
Zfp655	T	A	5: 145,181,473 (GRCm39)	C444S	probably benign	Het
Zpr1	A	G	9: 46,184,663 (GRCm39)	N57D	probably benign	Het

Other mutations in Socs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03330:Socs7	APN	11	97,269,378 (GRCm39)	missense	probably damaging	1.00
Dunn	UTSW	11	97,263,950 (GRCm39)	missense	probably benign	0.15
R2136:Socs7	UTSW	11	97,263,933 (GRCm39)	missense	possibly damaging	0.72
R2145:Socs7	UTSW	11	97,263,950 (GRCm39)	missense	probably benign	0.15
R4841:Socs7	UTSW	11	97,267,829 (GRCm39)	missense	possibly damaging	0.95
R4842:Socs7	UTSW	11	97,267,829 (GRCm39)	missense	possibly damaging	0.95
R5049:Socs7	UTSW	11	97,269,469 (GRCm39)	missense	probably benign	0.08
R5302:Socs7	UTSW	11	97,280,025 (GRCm39)	missense	probably damaging	1.00
R5330:Socs7	UTSW	11	97,268,852 (GRCm39)	missense	possibly damaging	0.83
R5331:Socs7	UTSW	11	97,268,852 (GRCm39)	missense	possibly damaging	0.83
R6956:Socs7	UTSW	11	97,267,849 (GRCm39)	missense	probably benign	0.00
R7448:Socs7	UTSW	11	97,267,917 (GRCm39)	missense	possibly damaging	0.84
R7677:Socs7	UTSW	11	97,280,468 (GRCm39)	missense	probably benign	0.25
R8419:Socs7	UTSW	11	97,254,165 (GRCm39)	missense	probably benign	0.14
R9422:Socs7	UTSW	11	97,253,973 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CGACTGAGCTGCTTAGGGATAC -3'
(R):5'- GGGATGGAGACTGAAGCTTTCTC -3'

Sequencing Primer
(F):5'- GATACCTTCACTCTCCTGCTTCTAAG -3'
(R):5'- ATGGAGACTGAAGCTTTCTCCTATG -3'

Posted On

2022-09-12