Incidental Mutation 'R1186:Hsh2d'
| ID |
102134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
ALX, Hsh2 |
| MMRRC Submission |
039258-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1186 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72189638-72201527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72200460 bp (GRCm38)
|
| 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: 99.5%
- 3x: 98.5%
- 10x: 95.7%
- 20x: 90.1%
|
| Validation Efficiency |
97% (69/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
G |
A |
10: 21,621,652 (GRCm38) |
R64Q |
probably benign |
Het |
| 4932438A13Rik |
T |
C |
3: 36,996,312 (GRCm38) |
|
probably benign |
Het |
| 9530068E07Rik |
G |
A |
11: 52,403,078 (GRCm38) |
V49I |
probably benign |
Het |
| A2m |
T |
C |
6: 121,661,534 (GRCm38) |
S902P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,470,549 (GRCm38) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,388,509 (GRCm38) |
T1395A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,294,341 (GRCm38) |
|
probably null |
Het |
| Ank3 |
G |
T |
10: 69,867,460 (GRCm38) |
A308S |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,404,269 (GRCm38) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,736,309 (GRCm38) |
D769G |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,875,376 (GRCm38) |
S2017P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,875,994 (GRCm38) |
I2704F |
unknown |
Het |
| Crip2 |
G |
A |
12: 113,144,959 (GRCm38) |
|
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 32,916,786 (GRCm38) |
I34V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,754,629 (GRCm38) |
|
probably null |
Het |
| Ddx5 |
T |
C |
11: 106,783,979 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,515,700 (GRCm38) |
L572Q |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,304,039 (GRCm38) |
A527T |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,785,174 (GRCm38) |
D261G |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,530,586 (GRCm38) |
F468L |
probably damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,533,405 (GRCm38) |
|
probably benign |
Het |
| Galnt17 |
G |
T |
5: 131,111,742 (GRCm38) |
T179K |
probably damaging |
Het |
| Gm6768 |
A |
C |
12: 119,261,471 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6899 |
C |
T |
11: 26,593,685 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
T |
A |
2: 181,231,128 (GRCm38) |
R2433W |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,814,723 (GRCm38) |
|
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,672,326 (GRCm38) |
L225P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,694,583 (GRCm38) |
I195T |
probably benign |
Het |
| Isyna1 |
C |
A |
8: 70,595,201 (GRCm38) |
N115K |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,078,008 (GRCm38) |
F75S |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,700,894 (GRCm38) |
D101G |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,878,269 (GRCm38) |
T243A |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,759,403 (GRCm38) |
V48A |
probably benign |
Het |
| Mcpt2 |
C |
T |
14: 56,043,945 (GRCm38) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,717,757 (GRCm38) |
|
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,564,671 (GRCm38) |
G162S |
probably null |
Het |
| Mtfr2 |
G |
A |
10: 20,352,852 (GRCm38) |
C48Y |
probably benign |
Het |
| Naip2 |
AGGG |
AGG |
13: 100,162,037 (GRCm38) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,161,981 (GRCm38) |
A516T |
possibly damaging |
Het |
| Nup107 |
A |
C |
10: 117,777,146 (GRCm38) |
Y292* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,650,024 (GRCm38) |
|
probably benign |
Het |
| Nxpe4 |
A |
C |
9: 48,393,392 (GRCm38) |
N260H |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,208,829 (GRCm38) |
G206R |
probably benign |
Het |
| Olfr1084 |
A |
T |
2: 86,639,463 (GRCm38) |
L82M |
probably damaging |
Het |
| Olfr5 |
T |
C |
7: 6,480,542 (GRCm38) |
I205V |
probably benign |
Het |
| Olfr901 |
T |
C |
9: 38,431,101 (GRCm38) |
V273A |
possibly damaging |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,157 (GRCm38) |
S142P |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,670,451 (GRCm38) |
Y299H |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,026,138 (GRCm38) |
E401V |
probably damaging |
Het |
| Rbm34 |
C |
A |
8: 126,965,447 (GRCm38) |
E182* |
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Senp2 |
T |
C |
16: 22,011,504 (GRCm38) |
S38P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,164,231 (GRCm38) |
|
probably null |
Het |
| Spred1 |
A |
T |
2: 117,177,697 (GRCm38) |
R361S |
possibly damaging |
Het |
| Spry2 |
A |
G |
14: 105,892,907 (GRCm38) |
C282R |
probably damaging |
Het |
| Srp54b |
T |
C |
12: 55,255,528 (GRCm38) |
|
probably benign |
Het |
| Taar8c |
G |
C |
10: 24,101,565 (GRCm38) |
Y116* |
probably null |
Het |
| Tchh |
C |
G |
3: 93,448,046 (GRCm38) |
R1598G |
unknown |
Het |
| Tex15 |
A |
G |
8: 33,571,633 (GRCm38) |
M364V |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,467,131 (GRCm38) |
R662G |
probably damaging |
Het |
| Ttc5 |
G |
A |
14: 50,767,226 (GRCm38) |
Q374* |
probably null |
Het |
| Usp46 |
C |
T |
5: 74,002,122 (GRCm38) |
A312T |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,835,626 (GRCm38) |
L34Q |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,893,892 (GRCm38) |
R122* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,565,067 (GRCm38) |
M78L |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,209,448 (GRCm38) |
I2012N |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,702,083 (GRCm38) |
G461S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,263,949 (GRCm38) |
L161F |
probably damaging |
Het |
|
| Other mutations in Hsh2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Hsh2d
|
APN |
8 |
72,200,619 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01134:Hsh2d
|
APN |
8 |
72,193,531 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01778:Hsh2d
|
APN |
8 |
72,193,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03324:Hsh2d
|
APN |
8 |
72,193,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0002:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0064:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0309:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0312:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0369:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0449:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0450:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0481:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0483:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0554:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0704:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0843:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0947:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0948:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0966:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0967:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1051:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1055:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1076:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1105:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1108:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1144:Hsh2d
|
UTSW |
8 |
72,193,592 (GRCm38) |
splice site |
probably benign |
|
|
R1150:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1345:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1371:Hsh2d
|
UTSW |
8 |
72,196,894 (GRCm38) |
splice site |
probably benign |
|
|
R1400:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1419:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1430:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1514:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1551:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1691:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1857:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1859:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1914:Hsh2d
|
UTSW |
8 |
72,193,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1915:Hsh2d
|
UTSW |
8 |
72,193,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1982:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2050:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2081:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2105:Hsh2d
|
UTSW |
8 |
72,200,646 (GRCm38) |
missense |
probably benign |
|
|
R4077:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4078:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4823:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4824:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4903:Hsh2d
|
UTSW |
8 |
72,193,528 (GRCm38) |
missense |
probably benign |
|
|
R4966:Hsh2d
|
UTSW |
8 |
72,193,528 (GRCm38) |
missense |
probably benign |
|
|
R6550:Hsh2d
|
UTSW |
8 |
72,198,453 (GRCm38) |
missense |
probably benign |
|
|
R7418:Hsh2d
|
UTSW |
8 |
72,196,794 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7673:Hsh2d
|
UTSW |
8 |
72,200,511 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7911:Hsh2d
|
UTSW |
8 |
72,196,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8890:Hsh2d
|
UTSW |
8 |
72,197,846 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9032:Hsh2d
|
UTSW |
8 |
72,200,541 (GRCm38) |
missense |
probably benign |
|
|
Y4335:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
Y4336:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
Y4337:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
missense |
probably benign |
0.01 |
|
Y4338:Hsh2d
|
UTSW |
8 |
72,200,460 (GRCm38) |
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 |
2014-01-15 |
Incidental Mutation