Incidental Mutation 'R2050:Hsh2d'
| ID |
226341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
040057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2050 (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
| 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 benign
Transcript: ENSMUST00000098630
|
| SMART Domains |
Protein: ENSMUSP00000096231
Gene: ENSMUSG00000074240
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
noncoding transcript
Transcript: ENSMUST00000211946
|
| Meta Mutation Damage Score |
0.0865 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
G |
T |
10: 126,916,130 (GRCm39) |
E214* |
probably null |
Het |
| Angpt2 |
G |
T |
8: 18,755,673 (GRCm39) |
P265T |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,143,443 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
C |
T |
5: 145,062,729 (GRCm39) |
P250S |
probably damaging |
Het |
| Atxn10 |
T |
G |
15: 85,249,513 (GRCm39) |
V115G |
probably benign |
Het |
| Bace2 |
T |
A |
16: 97,213,336 (GRCm39) |
C100S |
probably damaging |
Het |
| Bpifb9b |
T |
C |
2: 154,151,524 (GRCm39) |
S82P |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,300,300 (GRCm39) |
S2157P |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,359,598 (GRCm39) |
I104L |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,402 (GRCm39) |
I44T |
possibly damaging |
Het |
| Cdh6 |
T |
A |
15: 13,057,587 (GRCm39) |
M245L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,914,748 (GRCm39) |
V1075G |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,987,393 (GRCm39) |
F1065L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
T |
C |
8: 72,070,330 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
A |
T |
4: 56,835,350 (GRCm39) |
V309D |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,868,527 (GRCm39) |
E659D |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,464,696 (GRCm39) |
Y516H |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,580,127 (GRCm39) |
L3099P |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,520 (GRCm39) |
E1271G |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,530,444 (GRCm39) |
H188R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,148,245 (GRCm39) |
D344G |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,225,448 (GRCm39) |
M119T |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,992 (GRCm39) |
I368V |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,870 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Igsf8 |
T |
A |
1: 172,146,432 (GRCm39) |
Y36N |
probably damaging |
Het |
| Lrp12 |
G |
A |
15: 39,735,985 (GRCm39) |
S649L |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,453,473 (GRCm39) |
S788P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,887,917 (GRCm39) |
D1164G |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,488,921 (GRCm39) |
|
probably null |
Het |
| Myo5a |
G |
A |
9: 75,054,156 (GRCm39) |
E355K |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,743,194 (GRCm39) |
V85E |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,332,123 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
A |
T |
9: 44,174,077 (GRCm39) |
W375R |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,686 (GRCm39) |
|
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,764,815 (GRCm39) |
M603K |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,748 (GRCm39) |
V646E |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,353,349 (GRCm39) |
S510P |
probably benign |
Het |
| Slc9a1 |
A |
G |
4: 133,143,645 (GRCm39) |
H377R |
probably benign |
Het |
| Snrnp70 |
A |
C |
7: 45,036,724 (GRCm39) |
Y61* |
probably null |
Het |
| Spatc1l |
T |
C |
10: 76,399,892 (GRCm39) |
L138P |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,825 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,892,250 (GRCm39) |
S1055T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,083 (GRCm39) |
M209L |
probably damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,228,672 (GRCm39) |
V17I |
probably damaging |
Het |
| Tmem129 |
C |
A |
5: 33,815,126 (GRCm39) |
A16S |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,164,381 (GRCm39) |
E584G |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,193,856 (GRCm39) |
H627N |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,852,031 (GRCm39) |
D820G |
possibly damaging |
Het |
| Trpt1 |
T |
A |
19: 6,975,452 (GRCm39) |
N98K |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,429,069 (GRCm39) |
F857I |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,475,021 (GRCm39) |
V669A |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,273,681 (GRCm39) |
I832V |
probably damaging |
Het |
| Zbtb20 |
T |
A |
16: 43,429,975 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
C |
4: 108,575,800 (GRCm39) |
M427R |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,500 (GRCm39) |
F194I |
possibly damaging |
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 |
|
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 |
|
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'- TCTCTGTTCCAGGCTTCTGAAAG -3'
(R):5'- AGGCTTTGACCCCTGAGAATG -3'
Sequencing Primer
(F):5'- ACTGTGGAAGAACCTGAG -3'
(R):5'- GAGAATGCCTTCCTCCAGCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation