Incidental Mutation 'IGL02674:Shd'
ID 303041
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 # IGL02674
Quality Score
Status
Chromosome 17
Chromosomal Location 56277467-56283625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56278554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
Ref Sequence ENSEMBL: ENSMUSP00000153663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044216] [ENSMUST00000086869] [ENSMUST00000223629] [ENSMUST00000225145]
AlphaFold O88834
Predicted Effect possibly damaging
Transcript: ENSMUST00000044216
AA Change: D39G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047656
Gene: ENSMUSG00000039154
AA Change: D39G

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 probably benign
Transcript: ENSMUST00000086869
SMART Domains Protein: ENSMUSP00000084082
Gene: ENSMUSG00000003208

DomainStartEndE-ValueType
Pfam:DUF572 1 311 9.3e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223629
AA Change: D39G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224021
Predicted Effect possibly damaging
Transcript: ENSMUST00000225145
AA Change: D39G

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 72,983,643 (GRCm39) R689G probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Akna A T 4: 63,289,181 (GRCm39) C1247* probably null Het
Appl1 T G 14: 26,671,418 (GRCm39) T345P possibly damaging Het
Chga A G 12: 102,529,160 (GRCm39) D379G probably damaging Het
Chrna6 C T 8: 27,896,879 (GRCm39) A333T probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnhd1 A G 7: 105,370,688 (GRCm39) Q4656R probably benign Het
Dock9 A C 14: 121,833,023 (GRCm39) probably null Het
Fat4 A G 3: 39,037,486 (GRCm39) N3713D probably benign Het
Fsd1 A T 17: 56,303,483 (GRCm39) T452S probably benign Het
G6pc2 A G 2: 69,056,910 (GRCm39) probably null Het
Gfus T C 15: 75,798,238 (GRCm39) D178G probably damaging Het
Itprid1 A G 6: 55,874,913 (GRCm39) T288A probably benign Het
Kcnh4 C A 11: 100,637,720 (GRCm39) V646L possibly damaging Het
Kcnk1 T C 8: 126,751,753 (GRCm39) Y120H probably damaging Het
L3mbtl3 C T 10: 26,158,711 (GRCm39) E646K unknown Het
Lrrc4c T C 2: 97,460,120 (GRCm39) W249R probably damaging Het
Meox1 A T 11: 101,784,767 (GRCm39) L22H probably damaging Het
Mrgpra4 C T 7: 47,630,690 (GRCm39) V304M probably benign Het
Ncaph T C 2: 126,955,496 (GRCm39) Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 (GRCm39) probably null Het
Or10p1 A C 10: 129,443,939 (GRCm39) M137R possibly damaging Het
Or8g37 A G 9: 39,730,934 (GRCm39) probably null Het
Otol1 C T 3: 69,926,077 (GRCm39) P84L probably benign Het
Pcdhb11 T C 18: 37,556,667 (GRCm39) S666P probably damaging Het
Pou2f3 T C 9: 43,050,628 (GRCm39) K244R probably damaging Het
Ppp6r1 T C 7: 4,649,812 (GRCm39) N51S probably damaging Het
Prdm4 A T 10: 85,729,263 (GRCm39) L715M probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rsc1a1 G T 4: 141,411,406 (GRCm39) P502Q probably damaging Het
Senp1 T C 15: 97,954,840 (GRCm39) E448G probably damaging Het
Skint5 A C 4: 113,487,582 (GRCm39) probably benign Het
Tmprss15 T G 16: 78,798,682 (GRCm39) T667P possibly damaging Het
Vps13b A T 15: 35,640,104 (GRCm39) M1325L probably benign Het
Zfp263 T C 16: 3,564,629 (GRCm39) probably benign Het
Zfp786 A G 6: 47,797,427 (GRCm39) F504L probably benign Het
Other mutations in Shd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Shd APN 17 56,279,839 (GRCm39) missense possibly damaging 0.88
IGL02597:Shd APN 17 56,280,987 (GRCm39) missense possibly damaging 0.93
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