Incidental Mutation 'R4077:Hsh2d'
| ID |
316624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
041622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4077 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (81/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
A |
2: 150,690,379 (GRCm39) |
|
probably null |
Het |
| Adam33 |
T |
C |
2: 130,905,444 (GRCm39) |
|
probably benign |
Het |
| Adrm1b |
A |
C |
3: 92,336,195 (GRCm39) |
|
probably benign |
Het |
| Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,806,850 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
| Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
| Cdnf |
A |
G |
2: 3,522,060 (GRCm39) |
Y84C |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,757,297 (GRCm39) |
S407P |
probably damaging |
Het |
| Cmtr1 |
C |
A |
17: 29,904,949 (GRCm39) |
T300K |
probably damaging |
Het |
| Dennd2d |
A |
T |
3: 106,389,939 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,710 (GRCm39) |
D119V |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,079,496 (GRCm39) |
T1195A |
probably benign |
Het |
| Ermard |
T |
A |
17: 15,273,638 (GRCm39) |
S408T |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
| Fnbp4 |
C |
T |
2: 90,588,821 (GRCm39) |
R531* |
probably null |
Het |
| Gdf6 |
A |
G |
4: 9,844,776 (GRCm39) |
Y100C |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,760,208 (GRCm39) |
H374R |
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,368,202 (GRCm39) |
K277E |
probably damaging |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Hoxa11 |
A |
T |
6: 52,222,504 (GRCm39) |
Y66N |
probably damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,039,047 (GRCm39) |
L944Q |
probably damaging |
Het |
| Ighv3-1 |
C |
A |
12: 113,928,107 (GRCm39) |
S84I |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,794,375 (GRCm39) |
D1199G |
probably damaging |
Het |
| Kcnk10 |
A |
T |
12: 98,401,205 (GRCm39) |
M490K |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,992,387 (GRCm39) |
|
probably null |
Het |
| Lias |
A |
T |
5: 65,552,768 (GRCm39) |
T124S |
probably benign |
Het |
| Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,388,808 (GRCm39) |
T2206S |
unknown |
Het |
| Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
| Mis12 |
A |
G |
11: 70,916,134 (GRCm39) |
T56A |
probably benign |
Het |
| Or10ag56 |
T |
A |
2: 87,139,208 (GRCm39) |
M25K |
probably null |
Het |
| Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,848 (GRCm39) |
D121G |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,977,235 (GRCm39) |
V295A |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,576,850 (GRCm39) |
L134Q |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,717,824 (GRCm39) |
V1155E |
possibly damaging |
Het |
| Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
| Phyhipl |
C |
T |
10: 70,404,903 (GRCm39) |
V57I |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,501,647 (GRCm39) |
|
probably null |
Het |
| Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,962 (GRCm39) |
T615A |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
| Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
| Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,854,522 (GRCm39) |
P7S |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,432,771 (GRCm39) |
L521Q |
possibly damaging |
Het |
| Scgb1b21 |
T |
A |
7: 33,227,118 (GRCm39) |
|
noncoding transcript |
Het |
| Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,593,785 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,063,522 (GRCm39) |
E931G |
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,819,505 (GRCm39) |
M2V |
probably benign |
Het |
| Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,636,599 (GRCm39) |
V358A |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,643,821 (GRCm39) |
W1214* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,455,274 (GRCm39) |
C728R |
probably damaging |
Het |
| Wwox |
A |
G |
8: 115,166,481 (GRCm39) |
|
probably benign |
Het |
| Zbtb41 |
G |
A |
1: 139,357,064 (GRCm39) |
V440I |
probably benign |
Het |
| Zfp777 |
T |
C |
6: 48,002,456 (GRCm39) |
S589G |
probably benign |
Het |
| Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
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 |
|
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 |
|
|
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'- ATCTCTGTTCCAGGCTTCTGAAAG -3'
(R):5'- AGGCTTTGACCCCTGAGAATG -3'
Sequencing Primer
(F):5'- ACTGTGGAAGAACCTGAG -3'
(R):5'- GAGAATGCCTTCCTCCAGCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation