Incidental Mutation 'IGL01778:Hsh2d'
ID |
153745 |
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)
|
Stock # |
IGL01778
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
72943512-72954802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72947351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 16
(D16G)
|
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: D16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071970 Gene: ENSMUSG00000062007 AA Change: D16G
Domain | Start | End | E-Value | Type |
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: D16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127575 Gene: ENSMUSG00000062007 AA Change: D16G
Domain | Start | End | E-Value | Type |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt2 |
T |
C |
4: 154,751,162 (GRCm39) |
K325E |
probably benign |
Het |
Arc |
C |
T |
15: 74,544,204 (GRCm39) |
M6I |
probably benign |
Het |
Atp7b |
A |
T |
8: 22,484,844 (GRCm39) |
D1404E |
probably benign |
Het |
Cdk5rap1 |
T |
A |
2: 154,207,956 (GRCm39) |
N156I |
probably damaging |
Het |
Ctsa |
T |
C |
2: 164,676,230 (GRCm39) |
|
probably benign |
Het |
Depdc1b |
T |
G |
13: 108,498,861 (GRCm39) |
N181K |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,062,489 (GRCm39) |
V1994A |
probably damaging |
Het |
Epyc |
T |
A |
10: 97,517,099 (GRCm39) |
C312* |
probably null |
Het |
Erv3 |
T |
A |
2: 131,697,877 (GRCm39) |
R161* |
probably null |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,824,644 (GRCm39) |
T280A |
possibly damaging |
Het |
Gldn |
A |
T |
9: 54,241,776 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
G |
A |
2: 28,725,100 (GRCm39) |
R211C |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Klk15 |
T |
A |
7: 43,588,262 (GRCm39) |
M190K |
probably damaging |
Het |
Klri1 |
A |
G |
6: 129,694,010 (GRCm39) |
S26P |
possibly damaging |
Het |
Krt78 |
T |
A |
15: 101,859,402 (GRCm39) |
D265V |
probably damaging |
Het |
Lgr5 |
A |
C |
10: 115,298,607 (GRCm39) |
I355S |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,685,367 (GRCm39) |
V595D |
probably damaging |
Het |
Map2k6 |
A |
C |
11: 110,403,695 (GRCm39) |
|
probably benign |
Het |
Mdm4 |
A |
G |
1: 132,922,285 (GRCm39) |
S286P |
probably benign |
Het |
Ncoa4-ps |
T |
C |
12: 119,226,231 (GRCm39) |
|
noncoding transcript |
Het |
Or2ak7 |
A |
G |
11: 58,575,095 (GRCm39) |
Y132C |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,090,448 (GRCm39) |
M114K |
probably damaging |
Het |
Rdh13 |
C |
T |
7: 4,433,388 (GRCm39) |
|
probably null |
Het |
Reg3g |
T |
A |
6: 78,443,816 (GRCm39) |
I131F |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,892,818 (GRCm39) |
F827I |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,878,200 (GRCm39) |
C310S |
probably damaging |
Het |
Sypl1 |
A |
G |
12: 33,025,641 (GRCm39) |
Y235C |
probably damaging |
Het |
Trav7-4 |
A |
T |
14: 53,699,098 (GRCm39) |
T82S |
possibly damaging |
Het |
Trim28 |
T |
A |
7: 12,764,629 (GRCm39) |
V782D |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,575,242 (GRCm39) |
T25217M |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,432,381 (GRCm39) |
T260A |
possibly damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,009 (GRCm39) |
N308K |
probably benign |
Het |
Xdh |
T |
C |
17: 74,207,275 (GRCm39) |
E986G |
probably benign |
Het |
Zfp770 |
T |
C |
2: 114,026,719 (GRCm39) |
D450G |
probably damaging |
Het |
Zw10 |
T |
G |
9: 48,980,915 (GRCm39) |
S438R |
probably benign |
Het |
|
Other mutations in Hsh2d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2014-02-04 |