Incidental Mutation 'R8672:Shb'
ID661198
Institutional Source Beutler Lab
Gene Symbol Shb
Ensembl Gene ENSMUSG00000044813
Gene Namesrc homology 2 domain-containing transforming protein B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.311) question?
Stock #R8672 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location45423278-45532470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45489161 bp
ZygosityHeterozygous
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]
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: 48,090,329 E45* probably null Het
4932415D10Rik A T 10: 82,291,892 N1761K probably benign Het
9930021J03Rik T C 19: 29,754,164 T483A probably benign Het
Aadat A T 8: 60,506,145 probably benign Het
Amigo3 A G 9: 108,054,176 H266R possibly damaging Het
Amy2a1 A T 3: 113,529,497 M214K probably damaging Het
Atp11b A T 3: 35,819,917 D685V probably benign Het
Aunip T A 4: 134,523,149 M135K probably benign Het
Card9 T C 2: 26,357,938 T134A probably benign Het
Cd46 G A 1: 195,082,641 T216I probably benign Het
Chit1 T C 1: 134,151,267 V360A unknown Het
Crcp A G 5: 130,042,236 R59G probably benign Het
Csmd1 T A 8: 15,926,598 E2873D probably benign Het
Cyp8b1 T A 9: 121,914,920 M449L probably benign Het
Dpp7 T C 2: 25,356,121 D40G probably benign Het
Eif4g3 T A 4: 138,126,512 L463Q possibly damaging Het
Fzd9 T C 5: 135,249,670 I454V probably benign Het
Gbp11 T A 5: 105,343,809 I41F probably damaging Het
Gkap1 G A 13: 58,243,848 T231I probably damaging Het
Heatr5b A G 17: 78,762,203 L1705P probably damaging Het
Herc3 T A 6: 58,873,801 F467I probably damaging Het
Ifih1 T C 2: 62,605,649 E699G possibly damaging Het
Ints5 T A 19: 8,896,006 L443Q probably damaging Het
Itpr2 A T 6: 146,374,518 C764S probably damaging Het
Kcnma1 A T 14: 23,501,162 I519N probably damaging Het
Krtap4-1 C T 11: 99,628,064 C40Y unknown Het
Mdn1 A G 4: 32,768,793 D5384G probably damaging Het
Mpl T C 4: 118,448,913 Y310C probably damaging Het
Mucl1 A G 15: 103,753,797 S48P possibly damaging Het
Musk T G 4: 58,286,051 probably benign Het
Nemp1 T C 10: 127,677,119 S8P probably benign Het
Nisch A G 14: 31,173,136 C1068R probably damaging Het
Npr3 T C 15: 11,851,493 N404D probably damaging Het
Nwd1 C G 8: 72,667,379 H423Q probably damaging Het
Olfr1062 T A 2: 86,423,632 M15L probably benign Het
Olfr76 C T 19: 12,120,557 V52M probably benign Het
Olfr792 T A 10: 129,540,727 N63K probably damaging Het
Pcdh9 T C 14: 93,887,093 N547S probably benign Het
Pdha2 C A 3: 141,211,363 R128L probably damaging Het
Pebp1 A G 5: 117,283,271 Y181H probably benign Het
Peg3 T G 7: 6,708,524 D1233A possibly damaging Het
Pepd C A 7: 34,942,682 T146N probably damaging Het
Ptk2b A T 14: 66,156,392 D877E probably benign Het
Rabgap1l A C 1: 160,443,276 M647R probably damaging Het
Rp1 A G 1: 4,348,784 S702P possibly damaging Het
Slc36a1 T A 11: 55,232,508 V433D possibly damaging Het
Spen C T 4: 141,470,370 A3396T probably benign Het
Tcerg1 A T 18: 42,553,494 K705N probably damaging Het
Thbs1 C A 2: 118,113,238 N112K probably benign Het
Zfp658 T C 7: 43,573,495 I398T possibly damaging Het
Other mutations in Shb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0555:Shb UTSW 4 45458321 missense possibly damaging 0.50
R1180:Shb UTSW 4 45423996 missense possibly damaging 0.93
R1952:Shb UTSW 4 45458347 splice site probably null
R5709:Shb UTSW 4 45458327 missense probably damaging 0.99
R6863:Shb UTSW 4 45458163 missense probably damaging 1.00
R7920:Shb UTSW 4 45489054 critical splice donor site probably null
R8315:Shb UTSW 4 45489079 missense probably damaging 1.00
R8742:Shb UTSW 4 45458319 missense probably benign 0.31
R8745:Shb UTSW 4 45458319 missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TCTCGGGTATTCTGTCACAGC -3'
(R):5'- AGGGCCTGCCAACATTTCTG -3'

Sequencing Primer
(F):5'- TCGGGTATTCTGTCACAGCAACAG -3'
(R):5'- TGTTCCATCCACTTAAACCTAGTAAC -3'
Posted On2021-03-08