Incidental Mutation 'R5302:Socs7'
ID 404307
Institutional Source Beutler Lab
Gene Symbol Socs7
Ensembl Gene ENSMUSG00000038485
Gene Name suppressor of cytokine signaling 7
Synonyms Nap4, 2310063P06Rik
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 97253261-97289368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97280025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 524 (I524N)
Ref Sequence ENSEMBL: ENSMUSP00000040896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045540]
AlphaFold Q8VHQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000045540
AA Change: I524N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040896
Gene: ENSMUSG00000038485
AA Change: I524N

DomainStartEndE-ValueType
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: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging Het
Other mutations in Socs7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9602:Socs7 UTSW 11 97,267,837 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AATAGCCCTGTGACATCTTCCC -3'
(R):5'- CCTTTGCTGCAATGTCACAG -3'

Sequencing Primer
(F):5'- CCACAGCACTTCTTCTGGGAG -3'
(R):5'- GTCACAGCTCTAGAGTTAAGTGC -3'
Posted On 2016-07-22