Incidental Mutation 'IGL01134:Hsh2d'
ID 51809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsh2d
Ensembl Gene ENSMUSG00000062007
Gene Name hematopoietic SH2 domain containing
Synonyms Hsh2, ALX
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01134
Quality Score
Status
Chromosome 8
Chromosomal Location 72943512-72954802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72947375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 24 (D24V)
Ref Sequence ENSEMBL: ENSMUSP00000127575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072097] [ENSMUST00000165324]
AlphaFold Q6VYH9
Predicted Effect probably damaging
Transcript: ENSMUST00000072097
AA Change: D24V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: D24V

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
SH2 32 115 1.75e-23 SMART
low complexity region 320 329 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165324
AA Change: D24V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: D24V

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
SH2 32 115 1.75e-23 SMART
low complexity region 320 329 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced IL-2 production, increased T cell proliferation in response to TCR/CD28 stimulation, splenomegaly, and an increased frequency of activated T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca T G 11: 84,142,105 (GRCm39) H637Q probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap6 C A 12: 52,984,000 (GRCm39) A848E probably damaging Het
Cxxc4 A G 3: 133,946,420 (GRCm39) I334V probably null Het
Cyp2b13 T A 7: 25,781,125 (GRCm39) I179N probably damaging Het
Cyp2d40 C A 15: 82,645,102 (GRCm39) A183S unknown Het
Cyp2g1 A G 7: 26,509,256 (GRCm39) N110S probably benign Het
F5 A T 1: 164,019,548 (GRCm39) R674S possibly damaging Het
Fnip2 G T 3: 79,419,810 (GRCm39) Y155* probably null Het
Fut9 G T 4: 25,620,446 (GRCm39) Q123K probably benign Het
Gda A G 19: 21,394,429 (GRCm39) S143P probably damaging Het
Gpr162 T C 6: 124,835,820 (GRCm39) probably null Het
Hsf2bp A G 17: 32,206,378 (GRCm39) L251S probably damaging Het
Htr1f T A 16: 64,746,501 (GRCm39) T264S probably benign Het
Med12l G A 3: 58,949,696 (GRCm39) E151K possibly damaging Het
Mgat3 C A 15: 80,096,377 (GRCm39) N401K probably benign Het
Mmp27 T G 9: 7,573,298 (GRCm39) M130R probably benign Het
Mroh2b T A 15: 4,944,634 (GRCm39) S412T probably benign Het
Mrps9 A G 1: 42,942,557 (GRCm39) I338M probably damaging Het
Mtmr4 C T 11: 87,494,893 (GRCm39) T395M probably damaging Het
Nlrp9b A G 7: 19,757,112 (GRCm39) I116M probably benign Het
Nqo1 T C 8: 108,115,587 (GRCm39) D230G probably benign Het
Pcnx2 C T 8: 126,589,889 (GRCm39) V795I probably benign Het
Pde8a G A 7: 80,968,826 (GRCm39) R449Q possibly damaging Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Sema3e A G 5: 14,302,784 (GRCm39) R770G probably damaging Het
Smr2 T C 5: 88,256,378 (GRCm39) S19P probably damaging Het
Trank1 T C 9: 111,220,849 (GRCm39) S2529P probably benign Het
Uspl1 T A 5: 149,141,103 (GRCm39) F367L probably damaging Het
Vps41 A G 13: 19,050,320 (GRCm39) S838G probably benign Het
Ythdf2 A T 4: 131,932,789 (GRCm39) F124I probably damaging Het
Other mutations in Hsh2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Hsh2d APN 8 72,954,463 (GRCm39) missense probably damaging 0.98
IGL01778:Hsh2d APN 8 72,947,351 (GRCm39) missense probably damaging 1.00
IGL03324:Hsh2d APN 8 72,947,356 (GRCm39) missense probably damaging 1.00
R0002:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0064:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0309:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0312:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0369:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0449:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0450:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0481:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0483:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0554:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0704:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0843:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0947:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0948:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0966:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R0967:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1051:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1055:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1076:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1105:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1108:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1144:Hsh2d UTSW 8 72,947,436 (GRCm39) splice site probably benign
R1150:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1186:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1345:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1371:Hsh2d UTSW 8 72,950,738 (GRCm39) splice site probably benign
R1400:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1419:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1430:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1514:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1551:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1691:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1857:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1859:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R1914:Hsh2d UTSW 8 72,947,365 (GRCm39) missense probably damaging 1.00
R1915:Hsh2d UTSW 8 72,947,365 (GRCm39) missense probably damaging 1.00
R1982:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R2050:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R2081:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R2105:Hsh2d UTSW 8 72,954,490 (GRCm39) missense probably benign
R4077:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R4078:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R4823:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R4824:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
R4903:Hsh2d UTSW 8 72,947,372 (GRCm39) missense probably benign
R4966:Hsh2d UTSW 8 72,947,372 (GRCm39) missense probably benign
R6550:Hsh2d UTSW 8 72,952,297 (GRCm39) missense probably benign
R7418:Hsh2d UTSW 8 72,950,638 (GRCm39) critical splice acceptor site probably null
R7673:Hsh2d UTSW 8 72,954,355 (GRCm39) missense probably benign 0.15
R7911:Hsh2d UTSW 8 72,950,648 (GRCm39) missense probably damaging 1.00
R8890:Hsh2d UTSW 8 72,951,690 (GRCm39) missense probably damaging 1.00
R9032:Hsh2d UTSW 8 72,954,385 (GRCm39) missense probably benign
Y4335:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
Y4336:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
Y4337:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
Y4338:Hsh2d UTSW 8 72,954,304 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21