Incidental Mutation 'R5912:Sh2b1'
ID 461060
Institutional Source Beutler Lab
Gene Symbol Sh2b1
Ensembl Gene ENSMUSG00000030733
Gene Name SH2B adaptor protein 1
Synonyms SH2-Bb, Sh2bpsm1, Irip, SH2-B
MMRRC Submission 044109-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R5912 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126066166-126074596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126070642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 353 (E353G)
Ref Sequence ENSEMBL: ENSMUSP00000146121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000205889] [ENSMUST00000206664] [ENSMUST00000206643]
AlphaFold Q91ZM2
Predicted Effect probably damaging
Transcript: ENSMUST00000032978
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: E353G

DomainStartEndE-ValueType
Pfam:Phe_ZIP 25 81 4.6e-25 PFAM
low complexity region 83 99 N/A INTRINSIC
low complexity region 133 151 N/A INTRINSIC
low complexity region 156 168 N/A INTRINSIC
low complexity region 195 205 N/A INTRINSIC
PH 247 378 4.82e-7 SMART
low complexity region 447 460 N/A INTRINSIC
low complexity region 466 483 N/A INTRINSIC
SH2 525 610 2.84e-23 SMART
low complexity region 668 677 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205340
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000205440
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000205497
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000205733
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000205889
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206664
AA Change: E353G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206515
Predicted Effect probably benign
Transcript: ENSMUST00000206643
Meta Mutation Damage Score 0.5515 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice are infertile. Female mice have small, anovulatory ovaries with reduced numbers of follicles and male mice exhibit small testes and sperm deficits. Mice homozygous for a floxed allele activated in the pancreas exhibit impaired glucose homeostasis when fed a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,897 (GRCm39) C166S possibly damaging Het
Ahnak T A 19: 8,989,267 (GRCm39) M3517K probably damaging Het
Asap2 T C 12: 21,256,344 (GRCm39) V214A probably damaging Het
Atp13a4 A G 16: 29,275,389 (GRCm39) V365A probably benign Het
Bivm G T 1: 44,165,573 (GRCm39) G8* probably null Het
Cc2d2a A C 5: 43,877,772 (GRCm39) D1043A probably damaging Het
Cdh2 A C 18: 16,773,507 (GRCm39) I331S possibly damaging Het
Clip3 A C 7: 29,998,295 (GRCm39) D247A probably benign Het
Csf3r A T 4: 125,923,753 (GRCm39) I88F probably damaging Het
Cyp2j13 A T 4: 95,945,079 (GRCm39) N316K probably damaging Het
Dnah12 T A 14: 26,491,965 (GRCm39) C1133* probably null Het
Glud1 G A 14: 34,033,300 (GRCm39) probably null Het
Gm5805 A G 15: 81,857,018 (GRCm39) noncoding transcript Het
Gsg1l2 G T 11: 67,665,540 (GRCm39) probably null Het
Ikzf1 C A 11: 11,698,464 (GRCm39) S105* probably null Het
Kif18b A G 11: 102,803,817 (GRCm39) S448P probably benign Het
Klhl31 C A 9: 77,563,012 (GRCm39) N592K probably damaging Het
Kmt2c A G 5: 25,552,467 (GRCm39) F1239L possibly damaging Het
Lama5 A G 2: 179,837,268 (GRCm39) Y1014H probably damaging Het
Macf1 A C 4: 123,290,951 (GRCm39) L3980R probably damaging Het
Magi1 A T 6: 93,685,126 (GRCm39) S524T possibly damaging Het
Nlrp4f A T 13: 65,342,722 (GRCm39) Y308N probably damaging Het
Or1e33 A C 11: 73,738,501 (GRCm39) I150R possibly damaging Het
Or3a1c A T 11: 74,046,046 (GRCm39) E22V possibly damaging Het
Rfx5 G A 3: 94,866,029 (GRCm39) probably benign Het
Scn1b C T 7: 30,817,228 (GRCm39) V165M probably damaging Het
Sema4c A C 1: 36,593,469 (GRCm39) V41G possibly damaging Het
Serpini1 G T 3: 75,523,914 (GRCm39) G174V probably benign Het
Slc7a6 G T 8: 106,906,289 (GRCm39) V174L probably benign Het
Smg1 A T 7: 117,753,809 (GRCm39) probably benign Het
Spag9 A G 11: 93,935,251 (GRCm39) N21D probably damaging Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Sulf1 A G 1: 12,856,976 (GRCm39) probably benign Het
Swt1 A G 1: 151,287,160 (GRCm39) S111P probably damaging Het
Syne2 G A 12: 75,955,721 (GRCm39) probably null Het
Tanc1 T C 2: 59,622,030 (GRCm39) V383A possibly damaging Het
Tbc1d10b G T 7: 126,799,033 (GRCm39) A491E probably damaging Het
Tek A G 4: 94,686,877 (GRCm39) T132A probably damaging Het
Traf3 A G 12: 111,221,783 (GRCm39) I290V probably benign Het
Traf5 A G 1: 191,730,030 (GRCm39) probably benign Het
Ttn A T 2: 76,640,687 (GRCm39) I13687N probably damaging Het
Unc5c A G 3: 141,494,767 (GRCm39) D415G probably damaging Het
Ust A G 10: 8,173,825 (GRCm39) Y227H probably benign Het
Vmn2r100 A G 17: 19,752,071 (GRCm39) N705D probably damaging Het
Wnk2 T C 13: 49,214,250 (GRCm39) E1444G probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb5 A G 4: 44,993,750 (GRCm39) S545P probably benign Het
Zfp710 A G 7: 79,731,222 (GRCm39) D133G probably benign Het
Zfp866 A T 8: 70,218,934 (GRCm39) C229S probably benign Het
Other mutations in Sh2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Sh2b1 APN 7 126,068,465 (GRCm39) missense probably damaging 0.99
IGL02320:Sh2b1 APN 7 126,068,341 (GRCm39) missense probably benign 0.02
IGL02589:Sh2b1 APN 7 126,068,440 (GRCm39) missense probably benign 0.19
IGL02668:Sh2b1 APN 7 126,071,646 (GRCm39) missense possibly damaging 0.62
IGL03189:Sh2b1 APN 7 126,067,702 (GRCm39) missense possibly damaging 0.61
R0130:Sh2b1 UTSW 7 126,070,620 (GRCm39) missense possibly damaging 0.95
R0532:Sh2b1 UTSW 7 126,071,444 (GRCm39) missense probably benign 0.00
R2081:Sh2b1 UTSW 7 126,071,862 (GRCm39) missense possibly damaging 0.62
R2109:Sh2b1 UTSW 7 126,071,536 (GRCm39) missense possibly damaging 0.74
R2409:Sh2b1 UTSW 7 126,070,651 (GRCm39) missense probably damaging 1.00
R2566:Sh2b1 UTSW 7 126,068,098 (GRCm39) missense probably damaging 0.99
R3752:Sh2b1 UTSW 7 126,067,959 (GRCm39) missense probably damaging 1.00
R4675:Sh2b1 UTSW 7 126,070,618 (GRCm39) missense possibly damaging 0.79
R4970:Sh2b1 UTSW 7 126,067,975 (GRCm39) missense probably damaging 1.00
R5102:Sh2b1 UTSW 7 126,070,408 (GRCm39) missense probably benign
R7368:Sh2b1 UTSW 7 126,067,685 (GRCm39) missense possibly damaging 0.59
R7694:Sh2b1 UTSW 7 126,066,929 (GRCm39) missense probably benign 0.03
R7801:Sh2b1 UTSW 7 126,070,464 (GRCm39) missense probably benign 0.15
R8005:Sh2b1 UTSW 7 126,068,479 (GRCm39) missense possibly damaging 0.82
R8353:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8356:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8453:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8456:Sh2b1 UTSW 7 126,066,772 (GRCm39) nonsense probably null
R8456:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8683:Sh2b1 UTSW 7 126,066,743 (GRCm39) utr 3 prime probably benign
R8906:Sh2b1 UTSW 7 126,070,292 (GRCm39) critical splice donor site probably null
R8921:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R8922:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9000:Sh2b1 UTSW 7 126,066,743 (GRCm39) utr 3 prime probably benign
R9000:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9269:Sh2b1 UTSW 7 126,068,354 (GRCm39) missense probably damaging 0.99
R9284:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9285:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9286:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9287:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9398:Sh2b1 UTSW 7 126,066,756 (GRCm39) utr 3 prime probably benign
R9398:Sh2b1 UTSW 7 126,066,746 (GRCm39) utr 3 prime probably benign
R9398:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,750 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,744 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9399:Sh2b1 UTSW 7 126,066,762 (GRCm39) utr 3 prime probably benign
R9403:Sh2b1 UTSW 7 126,066,747 (GRCm39) utr 3 prime probably benign
R9403:Sh2b1 UTSW 7 126,066,745 (GRCm39) nonsense probably null
R9403:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9404:Sh2b1 UTSW 7 126,066,771 (GRCm39) utr 3 prime probably benign
R9404:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9467:Sh2b1 UTSW 7 126,066,754 (GRCm39) nonsense probably null
R9467:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
R9482:Sh2b1 UTSW 7 126,066,768 (GRCm39) utr 3 prime probably benign
R9495:Sh2b1 UTSW 7 126,066,744 (GRCm39) utr 3 prime probably benign
R9507:Sh2b1 UTSW 7 126,066,760 (GRCm39) utr 3 prime probably benign
R9514:Sh2b1 UTSW 7 126,066,765 (GRCm39) utr 3 prime probably benign
R9514:Sh2b1 UTSW 7 126,066,750 (GRCm39) utr 3 prime probably benign
R9514:Sh2b1 UTSW 7 126,066,770 (GRCm39) utr 3 prime probably benign
R9624:Sh2b1 UTSW 7 126,066,750 (GRCm39) utr 3 prime probably benign
R9624:Sh2b1 UTSW 7 126,066,744 (GRCm39) utr 3 prime probably benign
R9624:Sh2b1 UTSW 7 126,066,742 (GRCm39) utr 3 prime probably benign
Z1176:Sh2b1 UTSW 7 126,066,903 (GRCm39) missense probably benign 0.23
Z1177:Sh2b1 UTSW 7 126,070,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTTGTGAAGAAGGAGGTC -3'
(R):5'- GACTTAGGCACATATCTTCAGCAG -3'

Sequencing Primer
(F):5'- CTGATAGCAGGACAGGGTCTAC -3'
(R):5'- CTTCAGCAGCAGGATGAGTATATGTC -3'
Posted On 2017-02-28