Incidental Mutation 'R0948:Hsh2d'
ID 81711
Institutional Source Beutler Lab
Gene Symbol Hsh2d
Ensembl Gene ENSMUSG00000062007
Gene Name hematopoietic SH2 domain containing
Synonyms Hsh2, ALX
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72943512-72954802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72954304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 229 (D229N)
Ref Sequence ENSEMBL: ENSMUSP00000127575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072097] [ENSMUST00000098630] [ENSMUST00000165324]
AlphaFold Q6VYH9
Predicted Effect probably benign
Transcript: ENSMUST00000072097
AA Change: D229N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
AA Change: D229N

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 benign
Transcript: ENSMUST00000098630
SMART Domains Protein: ENSMUSP00000096231
Gene: ENSMUSG00000074240

DomainStartEndE-ValueType
EFh 43 71 3.97e1 SMART
EFh 80 108 4.32e1 SMART
EFh 121 149 1.57e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165324
AA Change: D229N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
AA Change: D229N

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 noncoding transcript
Transcript: ENSMUST00000211946
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null Het
Other mutations in Hsh2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Hsh2d APN 8 72,954,463 (GRCm39) missense probably damaging 0.98
IGL01134:Hsh2d APN 8 72,947,375 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- CCACACTTGCAGTCCAACTGTGTC -3'
(R):5'- GCTTTGACCCCTGAGAATGCCTTC -3'

Sequencing Primer
(F):5'- GCTTCTGAAAGGAAGCCATC -3'
(R):5'- GAGAATGCCTTCCTCCAGC -3'
Posted On 2013-11-08