Incidental Mutation 'R1400:Hsh2d'
ID |
160331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsh2d
|
Ensembl Gene |
ENSMUSG00000062007 |
Gene Name |
hematopoietic SH2 domain containing |
Synonyms |
Hsh2, ALX |
MMRRC Submission |
039462-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R1400 (G1)
|
Quality Score |
156 |
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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130008F23Rik |
T |
C |
17: 41,191,195 (GRCm39) |
E78G |
probably damaging |
Het |
Acsf2 |
T |
C |
11: 94,461,142 (GRCm39) |
I345V |
probably benign |
Het |
Akap11 |
T |
A |
14: 78,751,402 (GRCm39) |
K328N |
probably damaging |
Het |
Aoc1 |
T |
A |
6: 48,883,217 (GRCm39) |
Y364* |
probably null |
Het |
Aoc1 |
A |
T |
6: 48,883,645 (GRCm39) |
Q507L |
probably benign |
Het |
Atp6v1c2 |
T |
C |
12: 17,339,131 (GRCm39) |
T207A |
probably benign |
Het |
Atr |
C |
A |
9: 95,744,901 (GRCm39) |
Q73K |
probably benign |
Het |
Cage1 |
A |
G |
13: 38,216,400 (GRCm39) |
S17P |
possibly damaging |
Het |
Cfap44 |
A |
T |
16: 44,241,575 (GRCm39) |
I649F |
probably benign |
Het |
Cops4 |
A |
G |
5: 100,681,412 (GRCm39) |
K200R |
probably damaging |
Het |
Crygd |
A |
G |
1: 65,102,367 (GRCm39) |
S32P |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,299 (GRCm39) |
I296T |
probably damaging |
Het |
Fads3 |
A |
G |
19: 10,033,664 (GRCm39) |
|
probably null |
Het |
Fbn2 |
T |
C |
18: 58,213,265 (GRCm39) |
E974G |
possibly damaging |
Het |
Gcgr |
A |
G |
11: 120,425,812 (GRCm39) |
H45R |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,752,220 (GRCm39) |
I2112T |
probably damaging |
Het |
Gm43302 |
A |
T |
5: 105,422,622 (GRCm39) |
I470N |
probably damaging |
Het |
Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
Krt13 |
C |
A |
11: 100,012,110 (GRCm39) |
G71V |
probably damaging |
Het |
Las1l |
T |
C |
X: 94,990,506 (GRCm39) |
T390A |
possibly damaging |
Het |
Lifr |
T |
A |
15: 7,220,346 (GRCm39) |
V992E |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,164,788 (GRCm39) |
|
probably null |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,350,477 (GRCm39) |
F636S |
probably damaging |
Het |
Necab1 |
T |
C |
4: 14,975,185 (GRCm39) |
D232G |
possibly damaging |
Het |
Nlrp4e |
A |
T |
7: 23,021,085 (GRCm39) |
E524V |
possibly damaging |
Het |
Nxf3 |
T |
A |
X: 134,976,794 (GRCm39) |
T349S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,773,886 (GRCm39) |
H191L |
possibly damaging |
Het |
Or4n5 |
A |
T |
14: 50,133,148 (GRCm39) |
I37K |
possibly damaging |
Het |
Or7g29 |
A |
G |
9: 19,286,358 (GRCm39) |
V273A |
probably damaging |
Het |
Or9g19 |
T |
C |
2: 85,600,477 (GRCm39) |
C111R |
possibly damaging |
Het |
Plscr1l1 |
G |
T |
9: 92,233,180 (GRCm39) |
C25F |
probably benign |
Het |
Ppm1e |
T |
A |
11: 87,122,592 (GRCm39) |
N455I |
probably damaging |
Het |
Prkag2 |
G |
A |
5: 25,078,916 (GRCm39) |
T158I |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,502,587 (GRCm39) |
|
probably null |
Het |
Rai14 |
T |
G |
15: 10,571,634 (GRCm39) |
K936N |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,035,808 (GRCm39) |
L1077P |
probably damaging |
Het |
Rgn |
C |
A |
X: 20,416,696 (GRCm39) |
Q27K |
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,609,962 (GRCm39) |
S723N |
probably benign |
Het |
Scamp1 |
A |
G |
13: 94,361,455 (GRCm39) |
F142L |
possibly damaging |
Het |
Selenon |
A |
G |
4: 134,278,829 (GRCm39) |
V67A |
probably benign |
Het |
Slc5a5 |
T |
C |
8: 71,342,079 (GRCm39) |
I292V |
possibly damaging |
Het |
Smarca2 |
C |
A |
19: 26,654,140 (GRCm39) |
T775K |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,861,787 (GRCm39) |
V2437I |
possibly damaging |
Het |
Tas2r143 |
C |
T |
6: 42,377,317 (GRCm39) |
A49V |
probably benign |
Het |
Tlr7 |
T |
A |
X: 166,090,845 (GRCm39) |
N214Y |
probably damaging |
Het |
Unc13a |
C |
A |
8: 72,103,865 (GRCm39) |
D856Y |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,680,118 (GRCm39) |
Y263H |
probably damaging |
Het |
Vill |
T |
C |
9: 118,892,415 (GRCm39) |
S349P |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,336 (GRCm39) |
|
probably null |
Het |
Zfp664 |
T |
C |
5: 124,963,217 (GRCm39) |
C204R |
unknown |
Het |
Zfp729b |
A |
G |
13: 67,740,913 (GRCm39) |
Y451H |
possibly 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 |
|
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 |
PCR Primer
(F):5'- CCACACTTGCAGTCCAACTGTGTC -3'
(R):5'- GCTTTGACCCCTGAGAATGCCTTC -3'
Sequencing Primer
(F):5'- GCTTCTGAAAGGAAGCCATC -3'
(R):5'- GAGAATGCCTTCCTCCAGC -3'
|
Posted On |
2014-03-14 |