Incidental Mutation 'R8672:Shb'
ID 661198
Institutional Source Beutler Lab
Gene Symbol Shb
Ensembl Gene ENSMUSG00000044813
Gene Name src homology 2 domain-containing transforming protein B
Synonyms
MMRRC Submission 068527-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # R8672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 45423276-45530828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45489161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 238 (D238E)
Ref Sequence ENSEMBL: ENSMUSP00000060433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061986] [ENSMUST00000146236] [ENSMUST00000147448]
AlphaFold Q6PD21
Predicted Effect probably damaging
Transcript: ENSMUST00000061986
AA Change: D238E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060433
Gene: ENSMUSG00000044813
AA Change: D238E

DomainStartEndE-ValueType
low complexity region 19 42 N/A INTRINSIC
low complexity region 47 68 N/A INTRINSIC
low complexity region 115 125 N/A INTRINSIC
low complexity region 131 157 N/A INTRINSIC
low complexity region 354 369 N/A INTRINSIC
SH2 402 485 3.29e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146236
AA Change: D39E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000147448
AA Change: D10E

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality associated with various embryogenesis defects including loss of embryo structures, open neural tube, hemorrhaging and tail defects. Heterozygous mice exhibit a distortion in the transmission ratio of the allele maternally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Aadat A T 8: 60,959,179 (GRCm39) probably benign Het
Amigo3 A G 9: 107,931,375 (GRCm39) H266R possibly damaging Het
Amy2a1 A T 3: 113,323,146 (GRCm39) M214K probably damaging Het
Atp11b A T 3: 35,874,066 (GRCm39) D685V probably benign Het
Aunip T A 4: 134,250,460 (GRCm39) M135K probably benign Het
Brd10 T C 19: 29,731,564 (GRCm39) T483A probably benign Het
Card9 T C 2: 26,247,950 (GRCm39) T134A probably benign Het
Cd46 G A 1: 194,764,949 (GRCm39) T216I probably benign Het
Chit1 T C 1: 134,079,005 (GRCm39) V360A unknown Het
Crcp A G 5: 130,071,077 (GRCm39) R59G probably benign Het
Csmd1 T A 8: 15,976,598 (GRCm39) E2873D probably benign Het
Cyp8b1 T A 9: 121,743,986 (GRCm39) M449L probably benign Het
Dpp7 T C 2: 25,246,133 (GRCm39) D40G probably benign Het
Eif4g3 T A 4: 137,853,823 (GRCm39) L463Q possibly damaging Het
Fzd9 T C 5: 135,278,524 (GRCm39) I454V probably benign Het
Gbp11 T A 5: 105,491,675 (GRCm39) I41F probably damaging Het
Gkap1 G A 13: 58,391,662 (GRCm39) T231I probably damaging Het
Heatr5b A G 17: 79,069,632 (GRCm39) L1705P probably damaging Het
Herc3 T A 6: 58,850,786 (GRCm39) F467I probably damaging Het
Ifih1 T C 2: 62,435,993 (GRCm39) E699G possibly damaging Het
Ints5 T A 19: 8,873,370 (GRCm39) L443Q probably damaging Het
Itpr2 A T 6: 146,276,016 (GRCm39) C764S probably damaging Het
Kcnma1 A T 14: 23,551,230 (GRCm39) I519N probably damaging Het
Krtap4-1 C T 11: 99,518,890 (GRCm39) C40Y unknown Het
Mdn1 A G 4: 32,768,793 (GRCm39) D5384G probably damaging Het
Mpl T C 4: 118,306,110 (GRCm39) Y310C probably damaging Het
Mucl1 A G 15: 103,784,063 (GRCm39) S48P possibly damaging Het
Musk T G 4: 58,286,051 (GRCm39) probably benign Het
Nemp1 T C 10: 127,512,988 (GRCm39) S8P probably benign Het
Nisch A G 14: 30,895,093 (GRCm39) C1068R probably damaging Het
Npr3 T C 15: 11,851,579 (GRCm39) N404D probably damaging Het
Nwd1 C G 8: 73,394,007 (GRCm39) H423Q probably damaging Het
Or5a1 C T 19: 12,097,921 (GRCm39) V52M probably benign Het
Or6c66b T A 10: 129,376,596 (GRCm39) N63K probably damaging Het
Or8j3c T A 2: 86,253,976 (GRCm39) M15L probably benign Het
Pcdh9 T C 14: 94,124,529 (GRCm39) N547S probably benign Het
Pdha2 C A 3: 140,917,124 (GRCm39) R128L probably damaging Het
Pebp1 A G 5: 117,421,336 (GRCm39) Y181H probably benign Het
Peg3 T G 7: 6,711,523 (GRCm39) D1233A possibly damaging Het
Pepd C A 7: 34,642,107 (GRCm39) T146N probably damaging Het
Ptk2b A T 14: 66,393,841 (GRCm39) D877E probably benign Het
Rabgap1l A C 1: 160,270,846 (GRCm39) M647R probably damaging Het
Rp1 A G 1: 4,419,007 (GRCm39) S702P possibly damaging Het
Slc36a1 T A 11: 55,123,334 (GRCm39) V433D possibly damaging Het
Spata31h1 A T 10: 82,127,726 (GRCm39) N1761K probably benign Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Tcerg1 A T 18: 42,686,559 (GRCm39) K705N probably damaging Het
Thbs1 C A 2: 117,943,719 (GRCm39) N112K probably benign Het
Zfp658 T C 7: 43,222,919 (GRCm39) I398T possibly damaging Het
Other mutations in Shb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0555:Shb UTSW 4 45,458,321 (GRCm39) missense possibly damaging 0.50
R1180:Shb UTSW 4 45,423,996 (GRCm39) missense possibly damaging 0.93
R1952:Shb UTSW 4 45,458,347 (GRCm39) splice site probably null
R5709:Shb UTSW 4 45,458,327 (GRCm39) missense probably damaging 0.99
R6863:Shb UTSW 4 45,458,163 (GRCm39) missense probably damaging 1.00
R7920:Shb UTSW 4 45,489,054 (GRCm39) critical splice donor site probably null
R8315:Shb UTSW 4 45,489,079 (GRCm39) missense probably damaging 1.00
R8742:Shb UTSW 4 45,458,319 (GRCm39) missense probably benign 0.31
R8745:Shb UTSW 4 45,458,319 (GRCm39) missense probably benign 0.31
R8916:Shb UTSW 4 45,489,154 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTCGGGTATTCTGTCACAGC -3'
(R):5'- AGGGCCTGCCAACATTTCTG -3'

Sequencing Primer
(F):5'- TCGGGTATTCTGTCACAGCAACAG -3'
(R):5'- TGTTCCATCCACTTAAACCTAGTAAC -3'
Posted On 2021-03-08