Incidental Mutation 'R8921:Sh2b1'
ID 679256
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 068707-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R8921 (G1)
Quality Score 217.468
Status Validated
Chromosome 7
Chromosomal Location 126066166-126074596 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) TGGGGACCAGCTCAGCCACGGGGACCAGCTC to TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC at 126066742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000205889] [ENSMUST00000206664]
AlphaFold Q91ZM2
Predicted Effect probably benign
Transcript: ENSMUST00000032974
SMART Domains Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 4.39e-16 SMART
Pfam:E1-E2_ATPase 92 340 1.5e-66 PFAM
Pfam:Hydrolase 345 715 7.5e-20 PFAM
Pfam:HAD 348 712 1.2e-18 PFAM
Pfam:Cation_ATPase 418 528 3.2e-23 PFAM
Pfam:Hydrolase_3 683 747 2.3e-7 PFAM
Pfam:Cation_ATPase_C 784 987 4.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032978
SMART Domains Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733

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 benign
Transcript: ENSMUST00000205340
Predicted Effect probably benign
Transcript: ENSMUST00000205440
Predicted Effect probably benign
Transcript: ENSMUST00000205497
Predicted Effect probably benign
Transcript: ENSMUST00000205733
Predicted Effect probably benign
Transcript: ENSMUST00000205889
Predicted Effect probably benign
Transcript: ENSMUST00000206664
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T A 11: 3,844,933 (GRCm39) E52V probably benign Het
4930516K23Rik G A 7: 103,708,083 (GRCm39) T242M probably damaging Het
Abcg5 T A 17: 84,990,253 (GRCm39) I17F probably benign Het
Adam25 T A 8: 41,207,710 (GRCm39) Y325* probably null Het
Adamts16 C T 13: 70,939,910 (GRCm39) probably benign Het
Akr1b1 A T 6: 34,289,639 (GRCm39) V57E probably benign Het
Api5 A G 2: 94,255,374 (GRCm39) L267P probably damaging Het
Asap3 T C 4: 135,963,726 (GRCm39) Y329H probably benign Het
Atp13a4 C T 16: 29,273,592 (GRCm39) R442K Het
Cadps2 T C 6: 23,302,300 (GRCm39) D1129G probably benign Het
Cd79b T A 11: 106,203,632 (GRCm39) Q145L probably benign Het
Cdh23 C T 10: 60,140,908 (GRCm39) E3147K probably damaging Het
Cfap251 A G 5: 123,424,481 (GRCm39) D722G possibly damaging Het
Col4a4 A G 1: 82,431,533 (GRCm39) W1584R unknown Het
Cops8 T C 1: 90,532,155 (GRCm39) L46P probably damaging Het
Cpne1 T C 2: 155,913,965 (GRCm39) Y146C probably benign Het
Ctdnep1 T A 11: 69,875,311 (GRCm39) V80E probably damaging Het
Cttnbp2 A G 6: 18,434,877 (GRCm39) I327T probably benign Het
Cyp4a32 T C 4: 115,468,460 (GRCm39) V314A probably damaging Het
Dlgap3 C A 4: 127,127,463 (GRCm39) H710Q probably damaging Het
Dnah9 T C 11: 65,802,747 (GRCm39) M3448V probably benign Het
E030018B13Rik C A 7: 63,569,727 (GRCm39) Q84K unknown Het
Efna5 A G 17: 63,188,053 (GRCm39) S25P possibly damaging Het
Egfl8 T G 17: 34,833,751 (GRCm39) T76P probably damaging Het
Endod1 A G 9: 14,268,942 (GRCm39) L181P probably damaging Het
Epha3 A G 16: 63,472,838 (GRCm39) L349P possibly damaging Het
Fam161b T A 12: 84,395,056 (GRCm39) T553S probably benign Het
Fmnl1 T C 11: 103,087,967 (GRCm39) F981L unknown Het
Galr2 T A 11: 116,173,973 (GRCm39) V201E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Greb1l T C 18: 10,541,825 (GRCm39) S1191P probably benign Het
Hmg20b T C 10: 81,184,821 (GRCm39) R84G probably damaging Het
Inppl1 T C 7: 101,472,593 (GRCm39) D1234G possibly damaging Het
Insl5 A G 4: 102,883,760 (GRCm39) S54P probably damaging Het
Itpr1 T A 6: 108,355,159 (GRCm39) F483L possibly damaging Het
Kif21a T C 15: 90,855,930 (GRCm39) E609G probably benign Het
Kpna7 A T 5: 144,941,840 (GRCm39) V150D probably damaging Het
L1td1 T A 4: 98,622,175 (GRCm39) C246S possibly damaging Het
Laptm4a T A 12: 8,988,139 (GRCm39) M292K possibly damaging Het
Lefty2 C G 1: 180,725,043 (GRCm39) P258A possibly damaging Het
Map4k1 G A 7: 28,701,052 (GRCm39) V719M probably damaging Het
Nbas T A 12: 13,463,590 (GRCm39) H1292Q probably benign Het
Nfkbia C T 12: 55,537,340 (GRCm39) G250S probably damaging Het
Nkain3 T C 4: 20,245,902 (GRCm39) T163A unknown Het
Npcd T C 15: 79,713,163 (GRCm39) E88G probably benign Het
Oas1f A T 5: 120,989,556 (GRCm39) Y165F probably benign Het
Or10d4 T A 9: 39,580,737 (GRCm39) L128* probably null Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or52e2 T C 7: 102,804,660 (GRCm39) D98G probably benign Het
Phtf2 T C 5: 21,008,275 (GRCm39) I135M probably benign Het
Pi4ka T C 16: 17,125,604 (GRCm39) E1177G Het
Polr3gl A T 3: 96,485,833 (GRCm39) D214E probably damaging Het
Pramel25 C T 4: 143,519,322 (GRCm39) Q28* probably null Het
Pramel51 T C 12: 88,143,952 (GRCm39) E295G probably benign Het
Prkar1a C A 11: 109,556,744 (GRCm39) Q275K probably benign Het
Ptprc A G 1: 138,054,039 (GRCm39) probably null Het
Pwwp2a C A 11: 43,596,344 (GRCm39) P503Q probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Rapgef6 T C 11: 54,570,065 (GRCm39) L1146S probably benign Het
Rara C A 11: 98,864,452 (GRCm39) Q460K unknown Het
Rassf4 C T 6: 116,638,897 (GRCm39) probably benign Het
Rere A G 4: 150,696,471 (GRCm39) D492G unknown Het
Selenon T G 4: 134,268,153 (GRCm39) K460T possibly damaging Het
Slc35e1 T C 8: 73,241,988 (GRCm39) T245A probably benign Het
Stat4 C T 1: 52,144,892 (GRCm39) A726V probably benign Het
Stim1 G T 7: 102,070,597 (GRCm39) V277L probably damaging Het
Strbp A G 2: 37,514,503 (GRCm39) probably null Het
Tln2 T C 9: 67,174,105 (GRCm39) Y860C probably damaging Het
Tmod4 T A 3: 95,033,289 (GRCm39) probably null Het
Tpm3-rs7 T C 14: 113,552,493 (GRCm39) V129A probably benign Het
Trp53bp2 C T 1: 182,273,971 (GRCm39) P41S Het
Tubal3 G A 13: 3,983,428 (GRCm39) D403N probably damaging Het
Zfp369 T C 13: 65,444,044 (GRCm39) S396P possibly damaging Het
Zfp976 G A 7: 42,262,575 (GRCm39) H422Y possibly damaging 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
R5912:Sh2b1 UTSW 7 126,070,642 (GRCm39) missense probably damaging 1.00
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
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'- GGGCAGGTATCTCACACAAATG -3'
(R):5'- TCCACAAGCAATGTCTTCTCAC -3'

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