Incidental Mutation 'R8745:Shb'
ID 663473
Institutional Source Beutler Lab
Gene Symbol Shb
Ensembl Gene ENSMUSG00000044813
Gene Name src homology 2 domain-containing transforming protein B
Synonyms
MMRRC Submission 068589-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.414) question?
Stock # R8745 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 45423276-45530828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 45458319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 282 (R282G)
Ref Sequence ENSEMBL: ENSMUSP00000060433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061986] [ENSMUST00000146236] [ENSMUST00000147448]
AlphaFold Q6PD21
Predicted Effect probably benign
Transcript: ENSMUST00000061986
AA Change: R282G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060433
Gene: ENSMUSG00000044813
AA Change: R282G

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 benign
Transcript: ENSMUST00000146236
AA Change: R83G

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000147448
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,611,807 (GRCm39) N377S probably benign Het
Aldh3b3 A T 19: 4,014,890 (GRCm39) Y129F possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd61 G A 5: 143,828,237 (GRCm39) S246L possibly damaging Het
Ccdc187 T A 2: 26,170,526 (GRCm39) I651F probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfap58 A T 19: 47,929,553 (GRCm39) K5* probably null Het
Col27a1 T C 4: 63,144,153 (GRCm39) S614P probably benign Het
Crlf3 T A 11: 79,955,100 (GRCm39) E85D probably damaging Het
Dennd2b T A 7: 109,156,279 (GRCm39) H157L probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnah7b A G 1: 46,221,624 (GRCm39) I1243V possibly damaging Het
Dnajc22 A G 15: 98,999,345 (GRCm39) T177A probably benign Het
Dytn A T 1: 63,686,606 (GRCm39) C355S probably benign Het
Efcab3 C T 11: 104,749,304 (GRCm39) T2340M possibly damaging Het
Ehbp1 T C 11: 22,119,064 (GRCm39) N202S possibly damaging Het
Exoc3l2 T C 7: 19,215,212 (GRCm39) I491T unknown Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fam53a A T 5: 33,767,781 (GRCm39) I43N probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
Fn1 T C 1: 71,676,528 (GRCm39) T568A probably benign Het
Gba1 A T 3: 89,115,180 (GRCm39) N404I probably damaging Het
Gsap A G 5: 21,474,949 (GRCm39) Y536C probably benign Het
Hecw2 T A 1: 53,972,330 (GRCm39) E230V probably damaging Het
Heg1 A G 16: 33,555,986 (GRCm39) Q1046R probably benign Het
Kctd14 G A 7: 97,107,445 (GRCm39) W233* probably null Het
Krt88 T C 15: 101,351,460 (GRCm39) S156P possibly damaging Het
L3mbtl1 C A 2: 162,812,137 (GRCm39) H727Q probably benign Het
Man1c1 T C 4: 134,303,295 (GRCm39) K400E probably damaging Het
Map2 A T 1: 66,452,556 (GRCm39) Q482L probably benign Het
Map3k1 A G 13: 111,893,306 (GRCm39) V733A probably damaging Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Map4k3 G A 17: 80,944,164 (GRCm39) R328C possibly damaging Het
Marchf7 C T 2: 60,067,153 (GRCm39) Q558* probably null Het
Mepe T C 5: 104,485,525 (GRCm39) S222P possibly damaging Het
Mfap3l A T 8: 61,124,958 (GRCm39) N400I possibly damaging Het
Myom3 T C 4: 135,522,509 (GRCm39) probably null Het
Nav3 T C 10: 109,659,311 (GRCm39) T769A probably benign Het
Ndufb7 T A 8: 84,297,518 (GRCm39) Y58N probably damaging Het
Nup160 T C 2: 90,530,463 (GRCm39) F445L probably benign Het
Or1e20-ps1 C A 11: 73,324,848 (GRCm39) *68L probably null Het
Or4c126 T A 2: 89,824,076 (GRCm39) M113K probably damaging Het
Or4p23 T C 2: 88,576,408 (GRCm39) I275V possibly damaging Het
Ovch2 G A 7: 107,389,584 (GRCm39) S321F possibly damaging Het
Pamr1 T C 2: 102,441,924 (GRCm39) L171P probably damaging Het
Pcdhga5 T C 18: 37,828,974 (GRCm39) V474A possibly damaging Het
Pcgf6 A G 19: 47,039,159 (GRCm39) S34P probably benign Het
Pitrm1 C T 13: 6,603,238 (GRCm39) P96L probably damaging Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ranbp1 A G 16: 18,065,244 (GRCm39) S21P possibly damaging Het
Rasgrp2 G T 19: 6,463,949 (GRCm39) R549L probably damaging Het
Rassf10 T A 7: 112,554,083 (GRCm39) L228Q probably damaging Het
Rho A T 6: 115,912,483 (GRCm39) I275F probably damaging Het
Rrp9 T C 9: 106,361,657 (GRCm39) V400A possibly damaging Het
Satb2 A G 1: 57,008,796 (GRCm39) L62P unknown Het
Scmh1 T A 4: 120,362,559 (GRCm39) L265* probably null Het
Scn7a A G 2: 66,510,526 (GRCm39) M1292T probably benign Het
Serpinb10 A T 1: 107,474,542 (GRCm39) T235S probably benign Het
Serpinb6c A G 13: 34,064,702 (GRCm39) V214A probably benign Het
Sf3b3 A G 8: 111,550,816 (GRCm39) I616T possibly damaging Het
Snx5 A T 2: 144,103,932 (GRCm39) S22T probably benign Het
Spata6 T C 4: 111,636,476 (GRCm39) F256L probably benign Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Tex9 T C 9: 72,389,778 (GRCm39) I111V probably benign Het
Tigd4 A G 3: 84,501,874 (GRCm39) I264V probably benign Het
Tmem182 C T 1: 40,877,536 (GRCm39) A137V probably damaging Het
Tnfrsf1a A G 6: 125,338,745 (GRCm39) I385V probably damaging Het
Tnrc18 A T 5: 142,773,202 (GRCm39) F542L Het
Tpbpa G A 13: 61,087,778 (GRCm39) T86I possibly damaging Het
Trappc14 A G 5: 138,261,327 (GRCm39) probably null Het
Ubr5 G A 15: 38,025,039 (GRCm39) P573L Het
Usp54 A G 14: 20,612,176 (GRCm39) I880T probably benign Het
Vmn1r9 A G 6: 57,048,767 (GRCm39) I281V probably benign Het
Zfp456 C A 13: 67,515,373 (GRCm39) C111F 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
R8672:Shb UTSW 4 45,489,161 (GRCm39) missense probably damaging 1.00
R8742: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'- TGTTCAGTACCTGCCTCCCAAG -3'
(R):5'- GGCCCAATCTCTGAAGACAG -3'

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