Incidental Mutation 'R1371:Hsh2d'
| ID |
157317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
039435-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R1371 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72943512-72954802 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 72950738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072097]
[ENSMUST00000165324]
|
| AlphaFold |
Q6VYH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072097
|
| SMART Domains |
Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
| 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: ENSMUST00000165324
|
| SMART Domains |
Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
| 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 |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 89.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,844,379 (GRCm39) |
D884V |
probably damaging |
Het |
| Acvr2a |
C |
T |
2: 48,789,628 (GRCm39) |
T457M |
probably damaging |
Het |
| Akr1b10 |
C |
T |
6: 34,369,394 (GRCm39) |
T208I |
probably benign |
Het |
| Aldh16a1 |
G |
T |
7: 44,796,674 (GRCm39) |
T275K |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Asgr1 |
T |
G |
11: 69,946,923 (GRCm39) |
C56W |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,860,918 (GRCm39) |
I335T |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,762 (GRCm39) |
|
probably benign |
Het |
| Bdh1 |
G |
T |
16: 31,275,720 (GRCm39) |
K280N |
probably benign |
Het |
| Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,108,172 (GRCm39) |
E285G |
probably benign |
Het |
| Ces1f |
C |
T |
8: 94,006,277 (GRCm39) |
G18R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,824,045 (GRCm39) |
I109L |
possibly damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,283 (GRCm39) |
L56S |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,382 (GRCm39) |
|
probably benign |
Het |
| F3 |
T |
C |
3: 121,526,159 (GRCm39) |
C241R |
probably damaging |
Het |
| Fhdc1 |
T |
A |
3: 84,352,310 (GRCm39) |
S972C |
probably damaging |
Het |
| Heatr1 |
T |
G |
13: 12,432,513 (GRCm39) |
I1086R |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,744,340 (GRCm39) |
Y2081C |
probably damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,481,873 (GRCm39) |
N194D |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,923,022 (GRCm39) |
V385M |
probably damaging |
Het |
| Lig1 |
G |
A |
7: 13,022,611 (GRCm39) |
R147Q |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,537,165 (GRCm39) |
V41I |
probably damaging |
Het |
| Macroh2a2 |
A |
T |
10: 61,585,112 (GRCm39) |
D177E |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,424 (GRCm39) |
V1201E |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,892,116 (GRCm39) |
|
probably benign |
Het |
| Nbas |
G |
T |
12: 13,532,379 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,840,719 (GRCm39) |
I321T |
possibly damaging |
Het |
| Nek10 |
G |
A |
14: 14,850,983 (GRCm38) |
G343R |
probably damaging |
Het |
| Or2a7 |
A |
T |
6: 43,151,234 (GRCm39) |
T105S |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,650 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4d2b |
A |
T |
11: 87,780,122 (GRCm39) |
I200N |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,253,595 (GRCm39) |
S141P |
probably benign |
Het |
| Pigm |
A |
T |
1: 172,204,381 (GRCm39) |
Q39L |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,846,750 (GRCm39) |
I88F |
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,192,856 (GRCm39) |
|
probably benign |
Het |
| Psmc4 |
G |
A |
7: 27,742,222 (GRCm39) |
|
probably benign |
Het |
| Ptger3 |
T |
A |
3: 157,273,365 (GRCm39) |
C237* |
probably null |
Het |
| Recql |
G |
A |
6: 142,318,601 (GRCm39) |
T214M |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,526,857 (GRCm39) |
V1349D |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,964,041 (GRCm39) |
S1740P |
probably damaging |
Het |
| Rrm2b |
A |
T |
15: 37,947,053 (GRCm39) |
S83T |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,394 (GRCm39) |
Y149H |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,076,207 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
T |
C |
7: 45,030,129 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
A |
15: 9,725,194 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
T |
C |
13: 53,505,660 (GRCm39) |
T253A |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,959,784 (GRCm39) |
Y595C |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,114 (GRCm39) |
V255A |
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 |
|
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 |
|
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'- ATTGCTTGCCCCATATCCAGCCAG -3'
(R):5'- AAGACGGAGGAGGGCTTTACCTTG -3'
Sequencing Primer
(F):5'- CCCATATCCAGCCAGTCTTC -3'
(R):5'- GACCCAGACTCATGTCACTAATTTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation