Incidental Mutation 'IGL01906:Sh2d7'
ID 179689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2d7
Ensembl Gene ENSMUSG00000046460
Gene Name SH2 domain containing 7
Synonyms 4933412E14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01906
Quality Score
Status
Chromosome 9
Chromosomal Location 54441430-54452304 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to A at 54446750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060242] [ENSMUST00000118413]
AlphaFold Q8BI17
Predicted Effect probably benign
Transcript: ENSMUST00000060242
SMART Domains Protein: ENSMUSP00000053690
Gene: ENSMUSG00000046460

DomainStartEndE-ValueType
Blast:SH2 1 51 7e-6 BLAST
low complexity region 165 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118413
SMART Domains Protein: ENSMUSP00000113298
Gene: ENSMUSG00000046460

DomainStartEndE-ValueType
Blast:SH2 1 51 7e-6 BLAST
low complexity region 165 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157176
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,166,225 (GRCm39) Q24L probably damaging Het
Adam1b A T 5: 121,639,538 (GRCm39) N502K probably benign Het
Adam6a T A 12: 113,507,951 (GRCm39) M108K probably benign Het
Akr1b10 A G 6: 34,364,746 (GRCm39) K69R probably benign Het
Ap5b1 T A 19: 5,621,007 (GRCm39) L809* probably null Het
Asxl3 A T 18: 22,655,338 (GRCm39) H1116L probably benign Het
Birc6 A G 17: 74,945,353 (GRCm39) T2794A probably damaging Het
Bst1 T C 5: 43,994,861 (GRCm39) F248L probably damaging Het
Cep120 A T 18: 53,847,984 (GRCm39) V625E probably benign Het
Cgnl1 T C 9: 71,631,849 (GRCm39) M501V probably benign Het
Col19a1 T A 1: 24,356,510 (GRCm39) D661V probably damaging Het
Copb2 A T 9: 98,462,383 (GRCm39) E456V probably benign Het
Csk A G 9: 57,536,304 (GRCm39) I201T probably damaging Het
Cttnbp2 G T 6: 18,378,375 (GRCm39) S977* probably null Het
Ddr2 A G 1: 169,809,668 (GRCm39) W770R probably damaging Het
Dnah7b T C 1: 46,214,613 (GRCm39) I1126T probably damaging Het
Ephb4 A T 5: 137,359,456 (GRCm39) E342V probably damaging Het
Erc2 T A 14: 27,863,263 (GRCm39) L496Q probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Haus3 A C 5: 34,325,667 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,543,638 (GRCm39) T2846A probably benign Het
Mto1 T C 9: 78,372,213 (GRCm39) V561A probably benign Het
Myb T C 10: 21,028,533 (GRCm39) Y110C probably damaging Het
Or4k36 T C 2: 111,146,246 (GRCm39) C141R probably damaging Het
Plcd3 T C 11: 102,967,682 (GRCm39) Y420C probably damaging Het
Plk4 G T 3: 40,764,816 (GRCm39) M603I probably null Het
Scgb1b24 T C 7: 33,443,538 (GRCm39) C66R probably damaging Het
Sec23a T C 12: 59,053,830 (GRCm39) Y56C probably damaging Het
Setd1b C A 5: 123,295,730 (GRCm39) D1099E unknown Het
Slc30a10 A T 1: 185,188,593 (GRCm39) K221* probably null Het
Slc5a1 T C 5: 33,311,997 (GRCm39) L463P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strc T C 2: 121,208,115 (GRCm39) T419A probably benign Het
Styxl2 A C 1: 165,927,092 (GRCm39) L840R probably damaging Het
Ttc39a T C 4: 109,278,591 (GRCm39) M82T probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps13b T C 15: 35,639,993 (GRCm39) probably benign Het
Other mutations in Sh2d7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Sh2d7 APN 9 54,448,515 (GRCm39) missense probably benign 0.01
IGL02724:Sh2d7 APN 9 54,448,105 (GRCm39) missense probably benign 0.13
R0482:Sh2d7 UTSW 9 54,448,321 (GRCm39) missense probably benign 0.00
R0669:Sh2d7 UTSW 9 54,448,633 (GRCm39) missense probably benign 0.00
R1187:Sh2d7 UTSW 9 54,448,471 (GRCm39) missense probably benign 0.40
R5809:Sh2d7 UTSW 9 54,446,860 (GRCm39) missense probably benign 0.01
R7286:Sh2d7 UTSW 9 54,448,186 (GRCm39) missense possibly damaging 0.62
R8350:Sh2d7 UTSW 9 54,448,191 (GRCm39) missense probably benign 0.43
R8450:Sh2d7 UTSW 9 54,448,191 (GRCm39) missense probably benign 0.43
Posted On 2014-05-07