Incidental Mutation 'IGL02597:Shd'
ID299903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shd
Ensembl Gene ENSMUSG00000039154
Gene Namesrc homology 2 domain-containing transforming protein D
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.276) question?
Stock #IGL02597
Quality Score
Status
Chromosome17
Chromosomal Location55970467-55976625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55973987 bp
ZygosityHeterozygous
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]
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
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Shd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Shd APN 17 55972839 missense possibly damaging 0.88
IGL02674:Shd APN 17 55971554 missense possibly damaging 0.87
IGL02734:Shd APN 17 55971632 missense probably damaging 1.00
R1700:Shd UTSW 17 55974307 missense probably damaging 0.98
R1844:Shd UTSW 17 55971554 missense possibly damaging 0.87
R4066:Shd UTSW 17 55971581 missense probably damaging 1.00
R5407:Shd UTSW 17 55973936 missense probably damaging 1.00
R5432:Shd UTSW 17 55976214 missense probably damaging 0.98
R5534:Shd UTSW 17 55971577 nonsense probably null
R8052:Shd UTSW 17 55976235 missense probably damaging 1.00
R8253:Shd UTSW 17 55976295 missense
Z1176:Shd UTSW 17 55972833 missense probably benign 0.14
Posted On2015-04-16