Incidental Mutation 'R0312:Hsh2d'
| ID |
65244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
038522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0312 (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: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
T |
12: 118,836,572 (GRCm39) |
A1113D |
probably damaging |
Het |
| Adcy1 |
G |
T |
11: 7,099,538 (GRCm39) |
A673S |
probably benign |
Het |
| Apob |
T |
A |
12: 8,059,034 (GRCm39) |
H2505Q |
probably benign |
Het |
| Arhgap12 |
A |
G |
18: 6,061,982 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,116,727 (GRCm39) |
E656K |
probably benign |
Het |
| Bnc1 |
C |
T |
7: 81,627,072 (GRCm39) |
R106H |
possibly damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,411,165 (GRCm39) |
K34E |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,943,226 (GRCm39) |
R1600W |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,034,760 (GRCm39) |
N2470K |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,129,054 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
| Dhx40 |
G |
A |
11: 86,662,775 (GRCm39) |
T639I |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,609,085 (GRCm39) |
T227A |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,873,433 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,644,882 (GRCm39) |
K1133M |
probably damaging |
Het |
| Dock5 |
G |
C |
14: 68,033,440 (GRCm39) |
F976L |
possibly damaging |
Het |
| Evc |
C |
T |
5: 37,485,885 (GRCm39) |
C97Y |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,874,876 (GRCm39) |
|
probably benign |
Het |
| Fggy |
A |
C |
4: 95,732,422 (GRCm39) |
D112A |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,574,813 (GRCm39) |
Y435H |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,230,231 (GRCm39) |
H1642L |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,394,369 (GRCm39) |
I237F |
probably damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,768,134 (GRCm39) |
N247S |
probably damaging |
Het |
| Gm7647 |
T |
C |
5: 95,110,839 (GRCm39) |
S7P |
probably benign |
Het |
| Gpr31b |
C |
T |
17: 13,270,498 (GRCm39) |
V224I |
probably damaging |
Het |
| Hlf |
G |
A |
11: 90,278,701 (GRCm39) |
P121L |
possibly damaging |
Het |
| Ism1 |
G |
T |
2: 139,520,592 (GRCm39) |
M1I |
probably null |
Het |
| Kansl1l |
T |
C |
1: 66,817,265 (GRCm39) |
N365S |
probably null |
Het |
| Lama1 |
T |
C |
17: 68,082,846 (GRCm39) |
L1368P |
possibly damaging |
Het |
| Lima1 |
A |
G |
15: 99,678,968 (GRCm39) |
V491A |
possibly damaging |
Het |
| Lrch1 |
G |
T |
14: 75,185,034 (GRCm39) |
H23N |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,172,183 (GRCm39) |
V1488A |
probably damaging |
Het |
| Lrp8 |
T |
C |
4: 107,664,052 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,733 (GRCm39) |
S653G |
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,228,558 (GRCm39) |
T141A |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,767 (GRCm39) |
N408K |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,147,390 (GRCm39) |
E51G |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,395 (GRCm39) |
T257A |
probably benign |
Het |
| Obox5 |
T |
A |
7: 15,491,485 (GRCm39) |
H8Q |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,372 (GRCm39) |
I105L |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,232 (GRCm39) |
V250A |
probably damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,202 (GRCm39) |
F101L |
probably benign |
Het |
| Phldb2 |
G |
T |
16: 45,609,410 (GRCm39) |
T732N |
probably damaging |
Het |
| Phyhip |
G |
T |
14: 70,704,410 (GRCm39) |
A210S |
possibly damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,563,409 (GRCm39) |
D1262G |
probably damaging |
Het |
| Pip |
G |
A |
6: 41,826,798 (GRCm39) |
E48K |
possibly damaging |
Het |
| Plk4 |
C |
T |
3: 40,767,982 (GRCm39) |
L74F |
probably damaging |
Het |
| Prdm14 |
G |
A |
1: 13,189,031 (GRCm39) |
R438W |
probably damaging |
Het |
| Rab19 |
G |
A |
6: 39,361,023 (GRCm39) |
R57H |
probably benign |
Het |
| Rtl1 |
G |
T |
12: 109,556,661 (GRCm39) |
P1726Q |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
T |
4: 112,666,297 (GRCm39) |
V1176D |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,067,948 (GRCm39) |
I1012V |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,665,721 (GRCm39) |
M509I |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,824,224 (GRCm39) |
G35E |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,432,335 (GRCm39) |
P801L |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,398,524 (GRCm39) |
G304D |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,539 (GRCm39) |
|
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,911,423 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-08-08 |
Incidental Mutation