Incidental Mutation 'R0369:Hsh2d'
| ID |
30376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
038575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0369 (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: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
G |
A |
9: 114,129,077 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2 |
T |
A |
3: 59,932,143 (GRCm39) |
Y219* |
probably null |
Het |
| Adamts13 |
C |
A |
2: 26,895,198 (GRCm39) |
D1096E |
probably benign |
Het |
| Adamts16 |
T |
G |
13: 70,927,671 (GRCm39) |
K523Q |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,820,019 (GRCm39) |
F740S |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,413,833 (GRCm39) |
T283A |
probably damaging |
Het |
| Cmpk2 |
G |
T |
12: 26,527,150 (GRCm39) |
E380* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,833,543 (GRCm39) |
I911T |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,502,079 (GRCm39) |
L156P |
probably damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,899,866 (GRCm39) |
I499V |
possibly damaging |
Het |
| Dhx58 |
A |
C |
11: 100,592,374 (GRCm39) |
|
probably null |
Het |
| Dip2a |
C |
T |
10: 76,134,621 (GRCm39) |
G390S |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,253 (GRCm39) |
D340G |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,407 (GRCm39) |
C314S |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,284,602 (GRCm39) |
H561L |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,552,780 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
C |
13: 31,991,495 (GRCm39) |
N102T |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,814,908 (GRCm39) |
I3547T |
probably benign |
Het |
| Gm5464 |
G |
T |
14: 67,106,774 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
C |
T |
10: 88,269,456 (GRCm39) |
R720C |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,469,375 (GRCm39) |
V130A |
possibly damaging |
Het |
| Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
| Hnrnpul2 |
C |
A |
19: 8,801,777 (GRCm39) |
D328E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,410,985 (GRCm39) |
Y1691C |
probably damaging |
Het |
| Kremen2 |
T |
C |
17: 23,961,784 (GRCm39) |
D241G |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,893,897 (GRCm39) |
D5G |
possibly damaging |
Het |
| Mrps5 |
G |
A |
2: 127,433,749 (GRCm39) |
R46K |
probably benign |
Het |
| Myh14 |
C |
T |
7: 44,310,374 (GRCm39) |
V170M |
probably damaging |
Het |
| Nexn |
T |
C |
3: 151,953,894 (GRCm39) |
N123D |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,282 (GRCm39) |
M207K |
probably benign |
Het |
| Or4d11 |
A |
T |
19: 12,013,765 (GRCm39) |
S114T |
probably benign |
Het |
| Or51l14 |
T |
A |
7: 103,101,423 (GRCm39) |
I293N |
probably damaging |
Het |
| Pacs1 |
C |
T |
19: 5,191,726 (GRCm39) |
V704M |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,822,425 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 46,370,543 (GRCm39) |
V281A |
probably benign |
Het |
| Plpp4 |
T |
G |
7: 128,925,190 (GRCm39) |
F142V |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,620 (GRCm39) |
Q338* |
probably null |
Het |
| Psg26 |
G |
T |
7: 18,216,481 (GRCm39) |
Y119* |
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,272,491 (GRCm39) |
C68R |
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,444 (GRCm39) |
I399N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 86,898,372 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,266,837 (GRCm39) |
S808T |
possibly damaging |
Het |
| Scn5a |
G |
A |
9: 119,362,838 (GRCm39) |
T594I |
probably damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,037,267 (GRCm39) |
D883G |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,369,220 (GRCm39) |
|
probably null |
Het |
| Terf1 |
A |
G |
1: 15,889,207 (GRCm39) |
H212R |
probably damaging |
Het |
| Tmco5 |
T |
G |
2: 116,711,269 (GRCm39) |
|
probably null |
Het |
| Tnfaip3 |
A |
T |
10: 18,882,660 (GRCm39) |
Y252* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,083 (GRCm39) |
N624K |
probably damaging |
Het |
| Top3a |
C |
A |
11: 60,633,615 (GRCm39) |
R827L |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,055,031 (GRCm39) |
|
probably null |
Het |
| Usp20 |
T |
C |
2: 30,901,116 (GRCm39) |
S422P |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,509,766 (GRCm39) |
E2402G |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,063,734 (GRCm39) |
Q181* |
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,267,373 (GRCm39) |
E681G |
probably damaging |
Het |
| Zfp91 |
C |
T |
19: 12,747,438 (GRCm39) |
V562I |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,148,017 (GRCm39) |
I204N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACACTTGCAGTCCAACTGTGTC -3'
(R):5'- GCTTTGACCCCTGAGAATGCCTTC -3'
Sequencing Primer
(F):5'- GCTTCTGAAAGGAAGCCATC -3'
(R):5'- GAGAATGCCTTCCTCCAGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation