Incidental Mutation 'R1551:Hsh2d'
ID |
169928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsh2d
|
Ensembl Gene |
ENSMUSG00000062007 |
Gene Name |
hematopoietic SH2 domain containing |
Synonyms |
Hsh2, ALX |
MMRRC Submission |
039590-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R1551 (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: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 83.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,918,101 (GRCm39) |
I1534M |
probably benign |
Het |
Acad11 |
G |
A |
9: 104,003,785 (GRCm39) |
A626T |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,119,174 (GRCm39) |
N3560K |
probably benign |
Het |
Aldh3a2 |
C |
T |
11: 61,144,470 (GRCm39) |
V363I |
probably benign |
Het |
Anks1b |
A |
G |
10: 89,912,843 (GRCm39) |
T289A |
probably benign |
Het |
Atp11a |
A |
G |
8: 12,862,340 (GRCm39) |
N64S |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,282,072 (GRCm39) |
|
probably null |
Het |
Cd101 |
T |
C |
3: 100,919,329 (GRCm39) |
H591R |
probably damaging |
Het |
Cd36 |
C |
T |
5: 18,002,120 (GRCm39) |
V294I |
probably benign |
Het |
Cfap47 |
C |
A |
X: 78,532,251 (GRCm39) |
L842F |
probably damaging |
Het |
Cgref1 |
T |
C |
5: 31,090,929 (GRCm39) |
E295G |
probably benign |
Het |
Cit |
A |
G |
5: 116,083,901 (GRCm39) |
M787V |
probably benign |
Het |
Clcn6 |
G |
A |
4: 148,097,235 (GRCm39) |
P611S |
possibly damaging |
Het |
Clec12a |
A |
C |
6: 129,327,384 (GRCm39) |
M1L |
probably damaging |
Het |
Cmtm6 |
C |
T |
9: 114,575,573 (GRCm39) |
R161W |
probably damaging |
Het |
Colec10 |
G |
T |
15: 54,325,658 (GRCm39) |
V163L |
probably damaging |
Het |
Coq8b |
A |
G |
7: 26,956,907 (GRCm39) |
Y520C |
probably damaging |
Het |
Ctsll3 |
C |
A |
13: 60,948,821 (GRCm39) |
E45* |
probably null |
Het |
Dsg3 |
A |
G |
18: 20,669,975 (GRCm39) |
E663G |
possibly damaging |
Het |
Dst |
G |
A |
1: 34,231,293 (GRCm39) |
R2962H |
probably benign |
Het |
Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
Fbxo36 |
T |
C |
1: 84,858,835 (GRCm39) |
I40T |
probably damaging |
Het |
Fgd2 |
G |
A |
17: 29,597,383 (GRCm39) |
V568M |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,356,207 (GRCm39) |
Y883H |
possibly damaging |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,589 (GRCm39) |
T199S |
possibly damaging |
Het |
Gm12789 |
A |
G |
4: 101,846,131 (GRCm39) |
K131E |
probably benign |
Het |
Gm17641 |
C |
A |
3: 68,777,448 (GRCm39) |
|
silent |
Het |
Gm6665 |
G |
T |
18: 31,953,340 (GRCm39) |
R43S |
probably damaging |
Het |
Gzmc |
T |
A |
14: 56,470,203 (GRCm39) |
H98L |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,491,528 (GRCm39) |
E75V |
probably damaging |
Het |
Herc2 |
G |
T |
7: 55,796,417 (GRCm39) |
V1930L |
probably benign |
Het |
Htr6 |
A |
T |
4: 138,801,776 (GRCm39) |
C99* |
probably null |
Het |
Lgals2 |
C |
T |
15: 78,736,511 (GRCm39) |
M16I |
probably benign |
Het |
Lrrc8c |
A |
G |
5: 105,756,090 (GRCm39) |
N622D |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,383,791 (GRCm39) |
I1613F |
possibly damaging |
Het |
Oacyl |
C |
T |
18: 65,875,280 (GRCm39) |
R455C |
probably benign |
Het |
Or13c25 |
A |
T |
4: 52,911,397 (GRCm39) |
Y132* |
probably null |
Het |
Or5ac21 |
T |
A |
16: 59,123,766 (GRCm39) |
N84K |
probably benign |
Het |
Or5bh3 |
T |
C |
X: 49,098,872 (GRCm39) |
T81A |
possibly damaging |
Het |
Orm3 |
A |
G |
4: 63,275,146 (GRCm39) |
|
probably null |
Het |
Phf2 |
G |
C |
13: 48,985,579 (GRCm39) |
T67S |
unknown |
Het |
Phf2 |
A |
G |
13: 48,957,079 (GRCm39) |
L1096P |
probably damaging |
Het |
Pigt |
T |
C |
2: 164,349,323 (GRCm39) |
V542A |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,937,720 (GRCm39) |
F992L |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Pramel11 |
A |
G |
4: 143,622,263 (GRCm39) |
M364T |
probably benign |
Het |
Prmt7 |
A |
G |
8: 106,964,014 (GRCm39) |
T303A |
probably benign |
Het |
Prpf4b |
A |
T |
13: 35,078,426 (GRCm39) |
I679F |
possibly damaging |
Het |
Psd4 |
T |
A |
2: 24,293,292 (GRCm39) |
M719K |
probably benign |
Het |
Ranbp9 |
A |
T |
13: 43,578,593 (GRCm39) |
M160K |
probably benign |
Het |
Rfc1 |
A |
G |
5: 65,434,706 (GRCm39) |
Y687H |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,883,423 (GRCm39) |
K119R |
probably damaging |
Het |
Rnf113a1 |
T |
C |
X: 36,455,046 (GRCm39) |
M1T |
probably null |
Het |
Rnf40 |
A |
C |
7: 127,195,506 (GRCm39) |
K511Q |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,800,029 (GRCm39) |
|
probably null |
Het |
Scrib |
A |
T |
15: 75,937,011 (GRCm39) |
V365E |
probably damaging |
Het |
Slc6a17 |
A |
G |
3: 107,379,443 (GRCm39) |
V575A |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,067,732 (GRCm39) |
N2053S |
possibly damaging |
Het |
Ssbp2 |
G |
A |
13: 91,790,511 (GRCm39) |
|
probably null |
Het |
Stab1 |
G |
T |
14: 30,882,456 (GRCm39) |
N460K |
probably benign |
Het |
Tbc1d9 |
T |
A |
8: 83,992,787 (GRCm39) |
C964S |
probably benign |
Het |
Tmed11 |
A |
G |
5: 108,927,680 (GRCm39) |
|
probably null |
Het |
Tmem191 |
C |
A |
16: 17,095,984 (GRCm39) |
R285S |
probably damaging |
Het |
Tpr |
T |
C |
1: 150,312,552 (GRCm39) |
S1917P |
probably benign |
Het |
Vill |
A |
T |
9: 118,892,440 (GRCm39) |
H357L |
probably benign |
Het |
Vmn1r229 |
A |
G |
17: 21,035,051 (GRCm39) |
T99A |
probably benign |
Het |
Vmn2r14 |
A |
G |
5: 109,369,283 (GRCm39) |
S97P |
probably damaging |
Het |
Wasf2 |
G |
T |
4: 132,917,483 (GRCm39) |
R194L |
unknown |
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 |
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 |
2014-04-13 |