Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Socs7'

541469

Institutional Source

Beutler Lab

Gene Symbol

Socs7

Ensembl Gene

ENSMUSG00000038485

Gene Name

suppressor of cytokine signaling 7

Synonyms

Nap4, 2310063P06Rik

MMRRC Submission

045067-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97253261-97289368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97267849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 327 (S327P)

Ref Sequence

ENSEMBL: ENSMUSP00000040896 (fasta)

Gene Model

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

AlphaFold

Q8VHQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000045540
AA Change: S327P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040896
Gene: ENSMUSG00000038485
AA Change: S327P

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,781,762 (GRCm39)	V945M	probably benign	Het
Amotl2	A	G	9: 102,601,967 (GRCm39)	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,163,132 (GRCm39)	I86T	possibly damaging	Het
C9	A	T	15: 6,474,945 (GRCm39)	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,862,528 (GRCm39)	P661T	probably damaging	Het
Ccdc202	T	A	14: 96,119,869 (GRCm39)	W209R	probably damaging	Het
Dcdc2a	T	A	13: 25,303,349 (GRCm39)	S293R	probably benign	Het
Dchs2	T	A	3: 83,261,233 (GRCm39)	N2500K	probably benign	Het
Dicer1	A	G	12: 104,697,282 (GRCm39)	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,616,446 (GRCm39)	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,471,470 (GRCm39)	S364G	probably damaging	Het
Dpp6	A	T	5: 27,803,819 (GRCm39)	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,252,748 (GRCm39)	I440T	probably damaging	Het
Fam184b	T	C	5: 45,688,099 (GRCm39)	T937A	probably damaging	Het
Fam229b	T	A	10: 39,009,843 (GRCm39)		probably null	Het
Gbp11	A	G	5: 105,476,241 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
H2-T3	T	A	17: 36,500,263 (GRCm39)	Y144F	probably damaging	Het
Kel	T	G	6: 41,664,907 (GRCm39)	D7A	probably damaging	Het
Lrrc7	A	G	3: 157,994,668 (GRCm39)	V166A	probably benign	Het
Mapt	T	C	11: 104,209,081 (GRCm39)		probably null	Het
Marchf3	A	G	18: 56,909,053 (GRCm39)	V244A	probably benign	Het
Mboat1	T	C	13: 30,422,059 (GRCm39)	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,435,621 (GRCm39)	D604G	probably damaging	Het
Muc16	T	C	9: 18,556,322 (GRCm39)	T3324A	unknown	Het
Nalf1	T	A	8: 9,820,744 (GRCm39)	Q92L	probably benign	Het
Nat10	T	C	2: 103,564,757 (GRCm39)	I495V	probably benign	Het
Or6c208	A	T	10: 129,224,166 (GRCm39)	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,635,337 (GRCm39)	N75D	probably damaging	Het
Psmd3	T	A	11: 98,586,377 (GRCm39)	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 92,012,941 (GRCm39)		probably null	Het
Scube1	T	C	15: 83,606,077 (GRCm39)	Y65C	probably damaging	Het
Slc12a4	A	G	8: 106,680,484 (GRCm39)	F211L	probably damaging	Het
Spef2	A	T	15: 9,685,021 (GRCm39)	D591E	probably damaging	Het
Sult2a6	T	A	7: 13,988,748 (GRCm39)	D4V	possibly damaging	Het
Tdpoz8	T	C	3: 92,981,279 (GRCm39)	V25A	possibly damaging	Het
Tdrd9	A	G	12: 112,002,788 (GRCm39)		probably benign	Het
Tgm4	G	T	9: 122,893,768 (GRCm39)	M155I	possibly damaging	Het
Togaram2	T	C	17: 72,036,183 (GRCm39)	V891A	probably benign	Het
Usp1	A	G	4: 98,819,243 (GRCm39)	E235G	probably damaging	Het
Usp2	T	A	9: 44,004,053 (GRCm39)	V533E	probably damaging	Het
Vcan	T	A	13: 89,837,550 (GRCm39)	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,397,505 (GRCm39)	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,225,136 (GRCm39)	C458F	probably damaging	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
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
R9602:Socs7	UTSW	11	97,267,837 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GACTGAGCTGCTTAGGGATAC -3'
(R):5'- GTTCTAGTCCAACCACAGGG -3'

Sequencing Primer
(F):5'- CTTCTAAGCAAGCACAGCTGATTGG -3'
(R):5'- GATGGAGACTGAAGCTTTCTCC -3'

Posted On

2018-11-28