Incidental Mutation 'R8916:Shb'
ID 678927
Institutional Source Beutler Lab
Gene Symbol Shb
Ensembl Gene ENSMUSG00000044813
Gene Name src homology 2 domain-containing transforming protein B
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R8916 (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 45489154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 241 (S241T)
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: S241T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060433
Gene: ENSMUSG00000044813
AA Change: S241T

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 possibly damaging
Transcript: ENSMUST00000146236
AA Change: S42T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000147448
AA Change: S13T

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A G 13: 70,941,307 (GRCm39) L360S probably damaging Het
AW554918 T C 18: 25,423,049 (GRCm39) Y167H probably damaging Het
Cdh18 A T 15: 23,410,813 (GRCm39) I433F probably damaging Het
Cenpj A T 14: 56,790,352 (GRCm39) F566I probably damaging Het
Cntn4 T A 6: 106,652,915 (GRCm39) Y795N probably damaging Het
Col4a4 C T 1: 82,501,667 (GRCm39) G362E unknown Het
Crebrf A G 17: 26,958,583 (GRCm39) T18A probably damaging Het
D130043K22Rik G A 13: 25,056,254 (GRCm39) V529I probably benign Het
Dars2 T C 1: 160,881,552 (GRCm39) T326A probably benign Het
Eif4e T C 3: 138,256,043 (GRCm39) probably benign Het
Enpp2 T C 15: 54,733,722 (GRCm39) M413V possibly damaging Het
Fbn1 T C 2: 125,245,149 (GRCm39) D246G possibly damaging Het
Foxred2 A G 15: 77,837,514 (GRCm39) S241P probably damaging Het
Fras1 T C 5: 96,900,774 (GRCm39) F2998L probably damaging Het
Garin4 A G 1: 190,895,857 (GRCm39) I262T probably benign Het
Grb10 T C 11: 11,901,599 (GRCm39) T192A probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Hinfp A T 9: 44,209,673 (GRCm39) F234I probably damaging Het
Hmcn1 A T 1: 150,649,530 (GRCm39) I652N probably damaging Het
Kif24 T C 4: 41,394,963 (GRCm39) K771E probably benign Het
Lhcgr A G 17: 89,061,170 (GRCm39) probably null Het
Lnpk A T 2: 74,358,486 (GRCm39) S358T probably benign Het
Lpcat2 A T 8: 93,596,316 (GRCm39) M118L probably benign Het
Lypd1 T A 1: 125,801,120 (GRCm39) T127S unknown Het
Mettl23 C T 11: 116,740,111 (GRCm39) T194I probably damaging Het
Mga T C 2: 119,788,819 (GRCm39) V2227A possibly damaging Het
Mus81 A T 19: 5,534,214 (GRCm39) V368E probably damaging Het
Myo3a T A 2: 22,457,704 (GRCm39) F1046I probably damaging Het
Nfia G A 4: 97,888,667 (GRCm39) V222I probably benign Het
Niban2 T A 2: 32,811,106 (GRCm39) M372K possibly damaging Het
Nop9 A G 14: 55,991,101 (GRCm39) E586G probably benign Het
Nr2e1 G A 10: 42,443,864 (GRCm39) A286V possibly damaging Het
Nup153 G A 13: 46,863,462 (GRCm39) Q300* probably null Het
Plaat1 A G 16: 29,039,259 (GRCm39) D113G possibly damaging Het
Pnp2 T C 14: 51,201,234 (GRCm39) L202P probably damaging Het
Prss3b T A 6: 41,010,103 (GRCm39) H77L probably damaging Het
Psen2 A G 1: 180,063,495 (GRCm39) F183L probably benign Het
Rint1 G T 5: 23,992,826 (GRCm39) probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Ryr3 C A 2: 112,608,635 (GRCm39) R2335L probably damaging Het
Scn1a T C 2: 66,108,127 (GRCm39) D1544G probably damaging Het
Sec31b A C 19: 44,520,783 (GRCm39) S175A Het
Sgcg A G 14: 61,474,341 (GRCm39) S101P probably damaging Het
Slc47a2 A T 11: 61,193,118 (GRCm39) L545Q probably damaging Het
Spata31g1 C A 4: 42,973,034 (GRCm39) P789H probably damaging Het
Spef2 C A 15: 9,725,266 (GRCm39) E164* probably null Het
Sphkap A T 1: 83,255,108 (GRCm39) N880K possibly damaging Het
Taf2 A G 15: 54,899,931 (GRCm39) V894A probably benign Het
Tgfa T G 6: 86,248,436 (GRCm39) L146R probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tlr4 G A 4: 66,847,268 (GRCm39) V132I probably benign Het
Tsen34 C T 7: 3,697,340 (GRCm39) probably benign Het
Ttc13 T G 8: 125,409,976 (GRCm39) K412T probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r195 A G 13: 22,463,139 (GRCm39) Y203C probably damaging Het
Vmn2r65 T A 7: 84,595,665 (GRCm39) T340S probably benign Het
Vmn2r88 T A 14: 51,648,593 (GRCm39) C46S Het
Ythdf2 A T 4: 131,931,830 (GRCm39) D443E probably damaging Het
Zeb2 T C 2: 44,886,796 (GRCm39) R754G probably damaging Het
Zfp236 T A 18: 82,664,351 (GRCm39) E478V probably damaging Het
Zfp287 A T 11: 62,605,136 (GRCm39) Y590* probably null Het
Zfp9 A T 6: 118,442,223 (GRCm39) C146* probably null 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
R8745:Shb UTSW 4 45,458,319 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- ATAGCACAAGGCCTTGGAGTC -3'
(R):5'- GGTGGGCTCATGTTTCCTAC -3'

Sequencing Primer
(F):5'- GGAGTCTGCCTGATCTTAAACATACC -3'
(R):5'- GGGCTCATGTTTCCTACTCCCC -3'
Posted On 2021-08-02