Incidental Mutation 'R7911:Hsh2d'
ID |
610514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsh2d
|
Ensembl Gene |
ENSMUSG00000062007 |
Gene Name |
hematopoietic SH2 domain containing |
Synonyms |
Hsh2, ALX |
MMRRC Submission |
045960-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R7911 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72943512-72954802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72950648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 45
(E45G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072097]
[ENSMUST00000165324]
|
AlphaFold |
Q6VYH9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072097
AA Change: E45G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071970 Gene: ENSMUSG00000062007 AA Change: E45G
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 damaging
Transcript: ENSMUST00000165324
AA Change: E45G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127575 Gene: ENSMUSG00000062007 AA Change: E45G
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 |
|
Meta Mutation Damage Score |
0.7267 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (67/67) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
T |
C |
5: 107,693,667 (GRCm39) |
F95L |
probably benign |
Het |
Abca3 |
C |
G |
17: 24,617,478 (GRCm39) |
D1058E |
probably damaging |
Het |
Abca7 |
C |
A |
10: 79,840,867 (GRCm39) |
R919S |
probably benign |
Het |
Abcc2 |
T |
C |
19: 43,792,109 (GRCm39) |
S297P |
probably benign |
Het |
Abcc8 |
A |
G |
7: 45,803,860 (GRCm39) |
L438P |
probably damaging |
Het |
Acbd6 |
C |
A |
1: 155,562,750 (GRCm39) |
D250E |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 97,015,608 (GRCm39) |
N1626D |
possibly damaging |
Het |
Arrdc4 |
C |
T |
7: 68,394,924 (GRCm39) |
E112K |
probably benign |
Het |
B3galnt1 |
T |
A |
3: 69,482,574 (GRCm39) |
Y229F |
probably damaging |
Het |
Calcrl |
A |
C |
2: 84,181,575 (GRCm39) |
I191S |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,759,866 (GRCm39) |
|
probably null |
Het |
Card11 |
A |
G |
5: 140,867,755 (GRCm39) |
|
probably null |
Het |
Cfap157 |
A |
G |
2: 32,668,219 (GRCm39) |
L407P |
probably damaging |
Het |
Cfap299 |
T |
A |
5: 98,885,567 (GRCm39) |
M158K |
possibly damaging |
Het |
Chst15 |
T |
C |
7: 131,872,251 (GRCm39) |
Q10R |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,999,372 (GRCm39) |
E262G |
probably benign |
Het |
Col26a1 |
A |
G |
5: 136,771,952 (GRCm39) |
L424P |
probably damaging |
Het |
Cryzl2 |
T |
C |
1: 157,299,925 (GRCm39) |
M308T |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,207,733 (GRCm39) |
I403T |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,238,563 (GRCm39) |
|
probably null |
Het |
Dmrt1 |
T |
A |
19: 25,580,692 (GRCm39) |
L368Q |
probably benign |
Het |
Dnah7b |
C |
A |
1: 46,178,838 (GRCm39) |
P837Q |
probably damaging |
Het |
Drg2 |
T |
A |
11: 60,355,001 (GRCm39) |
L283Q |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,445,122 (GRCm39) |
T1523I |
probably benign |
Het |
Farp1 |
T |
C |
14: 121,479,818 (GRCm39) |
S370P |
probably damaging |
Het |
Fbxl21 |
G |
A |
13: 56,684,976 (GRCm39) |
G360D |
probably damaging |
Het |
Fbxo39 |
T |
C |
11: 72,208,358 (GRCm39) |
S237P |
probably damaging |
Het |
Gart |
G |
T |
16: 91,435,672 (GRCm39) |
F180L |
probably benign |
Het |
Gng4 |
T |
C |
13: 13,999,857 (GRCm39) |
L42P |
possibly damaging |
Het |
Heatr9 |
T |
A |
11: 83,403,234 (GRCm39) |
D435V |
probably damaging |
Het |
Ighv1-74 |
A |
G |
12: 115,766,410 (GRCm39) |
I70T |
probably damaging |
Het |
Igkv1-133 |
T |
A |
6: 67,701,924 (GRCm39) |
F9L |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,167,051 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,067,774 (GRCm39) |
V1578A |
probably damaging |
Het |
Kcnj5 |
T |
C |
9: 32,233,517 (GRCm39) |
D266G |
probably damaging |
Het |
Klk1b9 |
A |
T |
7: 43,629,211 (GRCm39) |
K206N |
probably damaging |
Het |
Macir |
T |
A |
1: 97,573,615 (GRCm39) |
H150L |
probably damaging |
Het |
Madd |
C |
T |
2: 90,997,853 (GRCm39) |
G725D |
probably null |
Het |
Mki67 |
A |
T |
7: 135,306,333 (GRCm39) |
H576Q |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,651,681 (GRCm39) |
I36N |
|
Het |
Mycbp2 |
T |
G |
14: 103,437,621 (GRCm39) |
E2113D |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,457,677 (GRCm39) |
Y76C |
probably damaging |
Het |
Noct |
A |
G |
3: 51,155,069 (GRCm39) |
|
probably benign |
Het |
Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
Pcdhga6 |
C |
T |
18: 37,842,479 (GRCm39) |
S733L |
not run |
Het |
Pdlim7 |
T |
C |
13: 55,646,919 (GRCm39) |
E389G |
probably damaging |
Het |
Ppip5k1 |
A |
G |
2: 121,173,139 (GRCm39) |
Y480H |
possibly damaging |
Het |
Prc1 |
T |
A |
7: 79,954,120 (GRCm39) |
D93E |
probably benign |
Het |
Prdm15 |
A |
G |
16: 97,613,792 (GRCm39) |
M459T |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,688,924 (GRCm39) |
A906T |
probably damaging |
Het |
Ptpn21 |
T |
C |
12: 98,655,101 (GRCm39) |
E622G |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,501,788 (GRCm39) |
V1104A |
probably benign |
Het |
Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
Sh3pxd2b |
G |
A |
11: 32,321,533 (GRCm39) |
V31I |
probably damaging |
Het |
Skor1 |
T |
C |
9: 63,052,328 (GRCm39) |
E547G |
possibly damaging |
Het |
Slk |
C |
T |
19: 47,603,668 (GRCm39) |
T183I |
|
Het |
Sorcs1 |
C |
A |
19: 50,132,470 (GRCm39) |
D1163Y |
unknown |
Het |
Tex14 |
G |
A |
11: 87,424,428 (GRCm39) |
|
probably null |
Het |
Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
Tlcd4 |
A |
T |
3: 121,022,041 (GRCm39) |
I119K |
probably damaging |
Het |
Trav5-4 |
T |
C |
14: 53,941,908 (GRCm39) |
F94L |
probably benign |
Het |
Trpc6 |
G |
C |
9: 8,656,705 (GRCm39) |
G789R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,537,095 (GRCm39) |
C34944* |
probably null |
Het |
Usp53 |
T |
C |
3: 122,754,916 (GRCm39) |
M180V |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,193,107 (GRCm39) |
S8P |
probably damaging |
Het |
Wdr90 |
A |
T |
17: 26,069,723 (GRCm39) |
M1205K |
probably benign |
Het |
Zcwpw1 |
A |
T |
5: 137,795,032 (GRCm39) |
E76V |
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 |
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 |
|
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 |
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'- TGCATTGCTCAGAGGTAAGAGG -3'
(R):5'- AATCTCAGGTCCACCCAAGTG -3'
Sequencing Primer
(F):5'- CATTGCTCAGAGGTAAGAGGGTACAC -3'
(R):5'- CCAAGTGTTCCAGCTAGGTCTG -3'
|
Posted On |
2019-12-20 |