Incidental Mutation 'R7418:Hsh2d'
| ID |
575459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsh2d
|
| Ensembl Gene |
ENSMUSG00000062007 |
| Gene Name |
hematopoietic SH2 domain containing |
| Synonyms |
Hsh2, ALX |
| MMRRC Submission |
045496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R7418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72943512-72954802 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 72950638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072097]
[ENSMUST00000165324]
|
| AlphaFold |
Q6VYH9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072097
|
| SMART Domains |
Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007
| 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 null
Transcript: ENSMUST00000165324
|
| SMART Domains |
Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (66/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
T |
G |
10: 90,859,697 (GRCm39) |
H827P |
probably benign |
Het |
| Atp8b3 |
A |
T |
10: 80,365,926 (GRCm39) |
L308Q |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,616 (GRCm39) |
L404P |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 120,039,264 (GRCm39) |
G569R |
probably damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,433 (GRCm39) |
T63I |
probably damaging |
Het |
| Cngb1 |
G |
T |
8: 96,004,887 (GRCm39) |
S487* |
probably null |
Het |
| Cog5 |
A |
T |
12: 31,883,240 (GRCm39) |
N390Y |
probably damaging |
Het |
| Col6a4 |
C |
T |
9: 105,900,114 (GRCm39) |
G1670S |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,129,579 (GRCm39) |
D53E |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,444,307 (GRCm39) |
T539I |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,622 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
C |
T |
2: 24,774,646 (GRCm39) |
G53R |
probably benign |
Het |
| Eif2b1 |
T |
A |
5: 124,714,893 (GRCm39) |
N113Y |
probably benign |
Het |
| Eya3 |
A |
G |
4: 132,408,159 (GRCm39) |
T152A |
possibly damaging |
Het |
| Fam234b |
G |
A |
6: 135,194,009 (GRCm39) |
V221M |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,786,981 (GRCm39) |
T319S |
probably benign |
Het |
| Fchsd2 |
G |
T |
7: 100,920,831 (GRCm39) |
V479F |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 92,001,519 (GRCm39) |
S905P |
probably benign |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Fxn |
C |
T |
19: 24,257,860 (GRCm39) |
V24I |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,615,130 (GRCm39) |
D456N |
probably benign |
Het |
| Gm128 |
C |
T |
3: 95,147,878 (GRCm39) |
V139M |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,565,972 (GRCm39) |
T64A |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,134,903 (GRCm39) |
N64K |
probably damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,513,010 (GRCm39) |
S386P |
possibly damaging |
Het |
| Htt |
T |
C |
5: 34,947,697 (GRCm39) |
M125T |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,635,933 (GRCm39) |
|
probably null |
Het |
| Ints4 |
G |
A |
7: 97,140,179 (GRCm39) |
A137T |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,451,636 (GRCm39) |
D263G |
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Jpt1 |
A |
T |
11: 115,389,095 (GRCm39) |
L116Q |
probably damaging |
Het |
| Kansl2 |
A |
G |
15: 98,429,775 (GRCm39) |
S86P |
possibly damaging |
Het |
| Kat2b |
G |
T |
17: 53,917,953 (GRCm39) |
R104I |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,362 (GRCm39) |
A331D |
probably benign |
Het |
| Kcnk3 |
G |
A |
5: 30,779,675 (GRCm39) |
V242M |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 118,017,440 (GRCm39) |
L542P |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,907,087 (GRCm39) |
F119L |
probably damaging |
Het |
| Krtcap3 |
A |
T |
5: 31,409,881 (GRCm39) |
H149L |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,005 (GRCm39) |
V102A |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,472,156 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,975,900 (GRCm39) |
A1323S |
possibly damaging |
Het |
| Myl1 |
T |
A |
1: 66,965,338 (GRCm39) |
R151S |
unknown |
Het |
| Naif1 |
A |
G |
2: 32,342,583 (GRCm39) |
S45G |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,501,800 (GRCm39) |
T121I |
probably damaging |
Het |
| Neurod6 |
C |
T |
6: 55,656,283 (GRCm39) |
R118Q |
probably damaging |
Het |
| Npl |
A |
T |
1: 153,413,257 (GRCm39) |
|
probably null |
Het |
| Nr4a3 |
T |
C |
4: 48,051,476 (GRCm39) |
Y77H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,320 (GRCm39) |
C125* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,979,831 (GRCm39) |
D173A |
probably damaging |
Het |
| Pex11a |
G |
A |
7: 79,392,735 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,359,470 (GRCm39) |
F553I |
unknown |
Het |
| Sbf2 |
C |
T |
7: 109,965,028 (GRCm39) |
R1002H |
probably damaging |
Het |
| Sectm1a |
C |
A |
11: 120,960,119 (GRCm39) |
|
probably null |
Het |
| Slit3 |
G |
A |
11: 35,577,255 (GRCm39) |
V1163M |
possibly damaging |
Het |
| Sphk2 |
G |
A |
7: 45,361,180 (GRCm39) |
R275C |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,466 (GRCm39) |
S96G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,432 (GRCm39) |
E1373G |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,458 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,214 (GRCm39) |
F131L |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,788,117 (GRCm39) |
E847D |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,602,791 (GRCm39) |
F18477S |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,910,730 (GRCm39) |
R929* |
probably null |
Het |
| Usp49 |
G |
T |
17: 47,983,093 (GRCm39) |
E33* |
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,554 (GRCm39) |
V26A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,081 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,105,366 (GRCm39) |
V154I |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,799 (GRCm39) |
K446E |
probably damaging |
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 |
|
|
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 |
|
|
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'- AGAGTTGTACACATGGGAGTCC -3'
(R):5'- CAGATGGAAGCAGACCTCTC -3'
Sequencing Primer
(F):5'- TGTGCATTGCTCAGAGGTAAGAG -3'
(R):5'- AAGCAGACCTCTCTGGCATTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation