Incidental Mutation 'R8253:Shd'
ID 640153
Institutional Source Beutler Lab
Gene Symbol Shd
Ensembl Gene ENSMUSG00000039154
Gene Name src homology 2 domain-containing transforming protein D
Synonyms
MMRRC Submission 067679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R8253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56277467-56283625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56283295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 309 (V309A)
Ref Sequence ENSEMBL: ENSMUSP00000047656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044216]
AlphaFold O88834
Predicted Effect
SMART Domains Protein: ENSMUSP00000047656
Gene: ENSMUSG00000039154
AA Change: V309A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,874,702 (GRCm39) E493G probably benign Het
Akr1a1 A T 4: 116,493,840 (GRCm39) D313E probably damaging Het
Ap1m1 T A 8: 73,006,730 (GRCm39) V242E probably damaging Het
Atad2b T A 12: 5,024,159 (GRCm39) S670T possibly damaging Het
Atad2b C T 12: 5,024,160 (GRCm39) S670L probably benign Het
Atp23 C T 10: 126,704,543 (GRCm39) G197S probably benign Het
Avpr1b A T 1: 131,537,154 (GRCm39) T313S probably benign Het
Cblc A G 7: 19,520,157 (GRCm39) I362T probably damaging Het
Ccdc171 T A 4: 83,661,207 (GRCm39) S1106T probably damaging Het
Cimap3 T C 3: 105,905,683 (GRCm39) M193V probably benign Het
Csde1 C A 3: 102,946,037 (GRCm39) N10K probably damaging Het
Csnk2a2 T C 8: 96,215,005 (GRCm39) Y24C Het
Cyb5r4 G T 9: 86,941,108 (GRCm39) L420F probably damaging Het
Cyth4 A G 15: 78,486,937 (GRCm39) I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dner C T 1: 84,512,598 (GRCm39) G323E probably damaging Het
Elf1 T C 14: 79,773,792 (GRCm39) M1T probably null Het
Fam13c T C 10: 70,389,033 (GRCm39) S520P probably damaging Het
Fhip1b T A 7: 105,028,294 (GRCm39) H885L possibly damaging Het
Gabra2 A G 5: 71,249,413 (GRCm39) I30T probably benign Het
Gm6793 T A 8: 112,741,640 (GRCm39) M1L probably benign Het
Inpp5a T C 7: 139,061,556 (GRCm39) L76P probably damaging Het
Itih5 T C 2: 10,243,406 (GRCm39) I381T probably benign Het
Lyrm7 T C 11: 54,741,227 (GRCm39) I36V probably null Het
Magi2 A G 5: 20,814,305 (GRCm39) I906V probably benign Het
Mup5 C T 4: 61,752,811 (GRCm39) A71T probably benign Het
Ndufaf6 G A 4: 11,059,086 (GRCm39) R248W probably damaging Het
Or52z14 A T 7: 103,253,538 (GRCm39) I226L possibly damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Palm A T 10: 79,643,511 (GRCm39) K80* probably null Het
Pcyox1 C T 6: 86,366,044 (GRCm39) R390K probably benign Het
Pdx1 T C 5: 147,207,459 (GRCm39) probably null Het
Pkp2 T A 16: 16,086,406 (GRCm39) V689D probably damaging Het
Prkar2a G T 9: 108,617,638 (GRCm39) R232L probably damaging Het
Rasgrp4 C T 7: 28,838,287 (GRCm39) T87M possibly damaging Het
Ryr2 T A 13: 11,842,439 (GRCm39) Q486L possibly damaging Het
Skint7 C T 4: 111,834,675 (GRCm39) Q20* probably null Het
Slc35g1 C A 19: 38,391,237 (GRCm39) T173K probably damaging Het
Slit2 T C 5: 48,433,013 (GRCm39) F1073L probably benign Het
Snx18 T A 13: 113,731,317 (GRCm39) D559V probably damaging Het
Tbr1 G T 2: 61,635,585 (GRCm39) Q178H probably benign Het
Tmem145 T G 7: 25,006,939 (GRCm39) Y114D probably damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Uba2 T C 7: 33,850,323 (GRCm39) M377V probably damaging Het
Vps13c T A 9: 67,850,770 (GRCm39) Y2242* probably null Het
Xdh T G 17: 74,225,377 (GRCm39) Q475P possibly damaging Het
Zbtb42 T G 12: 112,646,746 (GRCm39) L307R probably damaging 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
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
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'- ACTGAGCTGAGAGCCATCAG -3'
(R):5'- CTTCACCTGTCAAGCATGCC -3'

Sequencing Primer
(F):5'- TGGCCTGGAACTCACTATGTAGAC -3'
(R):5'- TGTCAAGCATGCCCGCAG -3'
Posted On 2020-07-28