Incidental Mutation 'IGL02597:Shd'
ID 299903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shd
Ensembl Gene ENSMUSG00000039154
Gene Name src homology 2 domain-containing transforming protein D
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL02597
Quality Score
Status
Chromosome 17
Chromosomal Location 56277467-56283625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56280987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 221 (E221G)
Ref Sequence ENSEMBL: ENSMUSP00000047656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044216] [ENSMUST00000223629] [ENSMUST00000225145]
AlphaFold O88834
Predicted Effect possibly damaging
Transcript: ENSMUST00000044216
AA Change: E221G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047656
Gene: ENSMUSG00000039154
AA Change: E221G

DomainStartEndE-ValueType
low complexity region 16 23 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
SH2 224 308 6.04e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000223629
AA Change: E222G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224021
Predicted Effect probably benign
Transcript: ENSMUST00000225145
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,469,665 (GRCm39) Y862C probably damaging Het
Anapc1 T C 2: 128,465,851 (GRCm39) K1648E probably benign Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
Atp7a A T X: 105,113,494 (GRCm39) N34I probably benign Het
Casq2 A G 3: 102,033,953 (GRCm39) Y232C probably damaging Het
Cdan1 A T 2: 120,555,720 (GRCm39) N738K probably benign Het
Cdh24 A G 14: 54,870,972 (GRCm39) V132A possibly damaging Het
Chd5 C A 4: 152,456,169 (GRCm39) T946K probably damaging Het
Clip4 T C 17: 72,156,965 (GRCm39) probably benign Het
Copz2 T C 11: 96,748,425 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,549,331 (GRCm39) S283* probably null Het
Dlec1 A T 9: 118,963,604 (GRCm39) S973C probably damaging Het
Far1 A T 7: 113,150,463 (GRCm39) T264S probably benign Het
Iqgap1 A G 7: 80,373,633 (GRCm39) L1452P probably damaging Het
Irx5 A C 8: 93,087,400 (GRCm39) N444T possibly damaging Het
Kcnip2 A G 19: 45,784,712 (GRCm39) probably benign Het
Kmt2d A T 15: 98,761,712 (GRCm39) M546K unknown Het
Lrrc37a A G 11: 103,395,113 (GRCm39) L104S probably benign Het
Med12 T C X: 100,328,538 (GRCm39) L1143P probably damaging Het
Mtcl1 T C 17: 66,645,016 (GRCm39) H1477R probably benign Het
Nkap T A X: 36,411,437 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,656 (GRCm39) V109A probably benign Het
Or10a2 A T 7: 106,673,646 (GRCm39) T204S possibly damaging Het
Osbpl6 C T 2: 76,386,318 (GRCm39) Q214* probably null Het
Pex1 C T 5: 3,685,865 (GRCm39) T1202I possibly damaging Het
Prrc2b A T 2: 32,109,625 (GRCm39) N1066I probably damaging Het
Psmg1 T C 16: 95,788,497 (GRCm39) E152G probably damaging Het
Scn10a A G 9: 119,439,189 (GRCm39) I1560T probably damaging Het
Slc39a4 T C 15: 76,497,824 (GRCm39) T478A probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem161a A T 8: 70,634,693 (GRCm39) R297S probably damaging Het
Tns1 A G 1: 74,025,032 (GRCm39) probably null Het
Ugt2b36 G A 5: 87,228,783 (GRCm39) T420M probably damaging Het
Wdfy4 G A 14: 32,812,818 (GRCm39) R1652* probably null Het
Zap70 T A 1: 36,811,001 (GRCm39) Y178* probably null Het
Zdhhc3 A G 9: 122,929,456 (GRCm39) F60L probably damaging Het
Other mutations in Shd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Shd APN 17 56,279,839 (GRCm39) missense possibly damaging 0.88
IGL02674:Shd APN 17 56,278,554 (GRCm39) missense possibly damaging 0.87
IGL02734:Shd APN 17 56,278,632 (GRCm39) missense probably damaging 1.00
R1700:Shd UTSW 17 56,281,307 (GRCm39) missense probably damaging 0.98
R1844:Shd UTSW 17 56,278,554 (GRCm39) missense possibly damaging 0.87
R4066:Shd UTSW 17 56,278,581 (GRCm39) missense probably damaging 1.00
R5407:Shd UTSW 17 56,280,936 (GRCm39) missense probably damaging 1.00
R5432:Shd UTSW 17 56,283,214 (GRCm39) missense probably damaging 0.98
R5534:Shd UTSW 17 56,278,577 (GRCm39) nonsense probably null
R8052:Shd UTSW 17 56,283,235 (GRCm39) missense probably damaging 1.00
R8253:Shd UTSW 17 56,283,295 (GRCm39) missense
R8536:Shd UTSW 17 56,283,315 (GRCm39) missense probably damaging 0.96
R8560:Shd UTSW 17 56,278,616 (GRCm39) missense probably benign
R9643:Shd UTSW 17 56,283,268 (GRCm39) missense probably damaging 1.00
Z1176:Shd UTSW 17 56,279,833 (GRCm39) missense probably benign 0.14
Posted On 2015-04-16