Incidental Mutation 'R4066:Shd'
ID 316133
Institutional Source Beutler Lab
Gene Symbol Shd
Ensembl Gene ENSMUSG00000039154
Gene Name src homology 2 domain-containing transforming protein D
Synonyms
MMRRC Submission 040973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R4066 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56277467-56283625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56278581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 48 (D48V)
Ref Sequence ENSEMBL: ENSMUSP00000153663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044216] [ENSMUST00000086869] [ENSMUST00000223629] [ENSMUST00000225145]
AlphaFold O88834
Predicted Effect probably damaging
Transcript: ENSMUST00000044216
AA Change: D48V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047656
Gene: ENSMUSG00000039154
AA Change: D48V

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 probably damaging
Transcript: ENSMUST00000223629
AA Change: D48V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224021
Predicted Effect probably damaging
Transcript: ENSMUST00000225145
AA Change: D48V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1184 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A T 1: 63,602,584 (GRCm39) H582L probably damaging Het
Ankrd13d C T 19: 4,320,388 (GRCm39) A118T probably benign Het
Arhgap30 C T 1: 171,235,891 (GRCm39) T755I probably benign Het
Cab39l A G 14: 59,784,454 (GRCm39) H285R probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Dspp T A 5: 104,325,060 (GRCm39) N474K unknown Het
Fanci T C 7: 79,062,505 (GRCm39) probably null Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Gm8220 A T 14: 44,523,095 (GRCm39) R12* probably null Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Hnrnpr C A 4: 136,066,657 (GRCm39) probably benign Het
Htt C T 5: 35,036,191 (GRCm39) T2046I probably benign Het
Kat7 T C 11: 95,174,967 (GRCm39) D259G possibly damaging Het
Klra9 T C 6: 130,165,707 (GRCm39) T103A probably benign Het
Lad1 A G 1: 135,755,165 (GRCm39) E147G probably damaging Het
Lipo2 T C 19: 33,698,259 (GRCm39) I373V probably benign Het
Ltb4r1 G T 14: 56,004,952 (GRCm39) W85L probably damaging Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Myl10 A G 5: 136,724,304 (GRCm39) K70E probably damaging Het
Nptx2 G T 5: 144,493,122 (GRCm39) W403L probably damaging Het
Nyap2 A G 1: 81,219,550 (GRCm39) Y524C probably damaging Het
Or4a72 T A 2: 89,405,523 (GRCm39) L182F probably damaging Het
Or6b2b A G 1: 92,418,911 (GRCm39) C189R probably damaging Het
Or8b1 T A 9: 38,399,778 (GRCm39) M151K probably benign Het
Pde9a A G 17: 31,662,812 (GRCm39) *64W probably null Het
Ppp2r5b T C 19: 6,279,360 (GRCm39) Y379C probably damaging Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Recql4 A G 15: 76,590,027 (GRCm39) Y673H probably damaging Het
Rnps1-ps T A 6: 7,983,009 (GRCm39) noncoding transcript Het
Shcbp1 A G 8: 4,798,716 (GRCm39) I401T probably damaging Het
Slc14a1 A G 18: 78,154,592 (GRCm39) W209R probably damaging Het
Slc2a9 T C 5: 38,640,692 (GRCm39) K6E probably benign Het
Slco6d1 A G 1: 98,391,571 (GRCm39) probably benign Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stau2 A G 1: 16,464,283 (GRCm39) S156P possibly damaging Het
Stmn2 T C 3: 8,574,668 (GRCm39) probably benign Het
Togaram2 C A 17: 72,023,233 (GRCm39) probably benign Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Xpo4 G T 14: 57,825,511 (GRCm39) H939N 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACACCAGCATATTTTGGGG -3'
(R):5'- AGCCCAGAAGATCTTGGACTC -3'

Sequencing Primer
(F):5'- GGCACCAATGGCCAAGTG -3'
(R):5'- ACCCAGGGTGATAGGGAC -3'
Posted On 2015-05-15