Incidental Mutation 'R1051:Hsh2d'
| ID |
93962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
039141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R1051 (G1)
|
| Quality Score |
212 |
|
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: 97.0%
- 20x: 94.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,056,378 (GRCm39) |
V32A |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,583,956 (GRCm39) |
G353D |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,222,943 (GRCm39) |
H97L |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,640,790 (GRCm39) |
P615T |
probably benign |
Het |
| Chrng |
A |
T |
1: 87,136,785 (GRCm39) |
D218V |
possibly damaging |
Het |
| Col5a3 |
C |
A |
9: 20,686,531 (GRCm39) |
V1365L |
unknown |
Het |
| Ddx49 |
A |
G |
8: 70,747,335 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,569 (GRCm39) |
D164G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,274,829 (GRCm39) |
D378E |
probably benign |
Het |
| Farsb |
T |
C |
1: 78,420,287 (GRCm39) |
I535V |
possibly damaging |
Het |
| Fat1 |
T |
G |
8: 45,497,543 (GRCm39) |
S4343A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,145,425 (GRCm39) |
Y2737C |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,306,821 (GRCm39) |
E10G |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,068,541 (GRCm39) |
D271G |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,333,719 (GRCm39) |
F187L |
probably benign |
Het |
| Kdsr |
G |
A |
1: 106,675,310 (GRCm39) |
Q109* |
probably null |
Het |
| Klb |
G |
A |
5: 65,536,670 (GRCm39) |
A667T |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,332 (GRCm39) |
R704C |
possibly damaging |
Het |
| Lenep |
A |
T |
3: 89,309,780 (GRCm39) |
I56N |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,398 (GRCm39) |
I450V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,186,984 (GRCm39) |
N1329S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,198,165 (GRCm39) |
M1330K |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,808,466 (GRCm39) |
E1691G |
probably damaging |
Het |
| Ninl |
C |
G |
2: 150,812,046 (GRCm39) |
E240Q |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,966,869 (GRCm39) |
S195G |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,068,942 (GRCm39) |
E281G |
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,579,759 (GRCm39) |
T331A |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,341 (GRCm39) |
I301F |
possibly damaging |
Het |
| Or2d2 |
T |
A |
7: 106,728,123 (GRCm39) |
D159V |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,657 (GRCm39) |
I181T |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,829,255 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
A |
G |
4: 143,795,068 (GRCm39) |
E485G |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,174 (GRCm39) |
D417G |
probably null |
Het |
| Rhpn1 |
A |
T |
15: 75,584,241 (GRCm39) |
Y456F |
probably damaging |
Het |
| Rnpc3 |
C |
T |
3: 113,423,595 (GRCm39) |
E37K |
possibly damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,269,984 (GRCm39) |
L1857V |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sepsecs |
C |
T |
5: 52,822,698 (GRCm39) |
A18T |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,137,439 (GRCm39) |
L42F |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,496,119 (GRCm39) |
D1720V |
possibly damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,250,740 (GRCm39) |
|
probably null |
Het |
| Slc25a40 |
A |
T |
5: 8,480,450 (GRCm39) |
M67L |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,179,924 (GRCm39) |
D328G |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,468,389 (GRCm39) |
C4363* |
probably null |
Het |
| Tbc1d8 |
C |
T |
1: 39,420,534 (GRCm39) |
W666* |
probably null |
Het |
| Tubgcp2 |
T |
C |
7: 139,578,809 (GRCm39) |
D721G |
probably benign |
Het |
| Vps54 |
CTTAAT |
CT |
11: 21,228,001 (GRCm39) |
|
probably null |
Het |
| Wsb1 |
T |
C |
11: 79,137,059 (GRCm39) |
S113G |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,435 (GRCm39) |
F362S |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,835,977 (GRCm39) |
G511* |
probably null |
Het |
| Zfp568 |
C |
T |
7: 29,721,954 (GRCm39) |
Q299* |
probably null |
Het |
| Zfp688 |
G |
A |
7: 127,018,397 (GRCm39) |
P243S |
probably 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 |
|
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 |
2014-01-05 |
Incidental Mutation