Incidental Mutation 'IGL01563:Sh2d2a'
ID |
90898 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh2d2a
|
Ensembl Gene |
ENSMUSG00000028071 |
Gene Name |
SH2 domain containing 2A |
Synonyms |
Rlk/Itk-binding protein, Lad, Lck-associated adapter protein, TSAd, RIBP |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL01563
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87754062-87763029 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87759432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 273
(E273G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029709]
[ENSMUST00000107581]
|
AlphaFold |
Q9QXK9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029709
AA Change: E273G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029709 Gene: ENSMUSG00000028071 AA Change: E273G
Domain | Start | End | E-Value | Type |
SH2
|
114 |
197 |
2.31e-23 |
SMART |
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107581
AA Change: E281G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103207 Gene: ENSMUSG00000028071 AA Change: E281G
Domain | Start | End | E-Value | Type |
SH2
|
114 |
197 |
2.31e-23 |
SMART |
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
Blast:SH2
|
281 |
316 |
9e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194639
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] PHENOTYPE: While T cell development is normal, T cell proliferation in response to TCR-mediated activation is impaired in homozygous null mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,604,965 (GRCm39) |
E2205G |
probably damaging |
Het |
Arid2 |
G |
A |
15: 96,270,278 (GRCm39) |
V1464I |
probably damaging |
Het |
Axin2 |
A |
G |
11: 108,814,631 (GRCm39) |
Q173R |
probably damaging |
Het |
Best1 |
A |
G |
19: 9,964,099 (GRCm39) |
F454L |
probably benign |
Het |
CK137956 |
T |
G |
4: 127,864,428 (GRCm39) |
K67T |
possibly damaging |
Het |
Col14a1 |
G |
A |
15: 55,351,337 (GRCm39) |
G1555R |
unknown |
Het |
Csad |
G |
A |
15: 102,095,598 (GRCm39) |
S153F |
probably damaging |
Het |
Cyp4f40 |
A |
T |
17: 32,892,930 (GRCm39) |
D315V |
probably damaging |
Het |
Galnt3 |
G |
A |
2: 65,928,101 (GRCm39) |
A265V |
probably damaging |
Het |
Gm5901 |
C |
A |
7: 105,026,722 (GRCm39) |
Y163* |
probably null |
Het |
Golga4 |
A |
G |
9: 118,356,074 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,469,399 (GRCm39) |
D138G |
probably damaging |
Het |
Has1 |
A |
T |
17: 18,063,924 (GRCm39) |
|
probably benign |
Het |
Ighv1-42 |
A |
G |
12: 114,900,804 (GRCm39) |
S94P |
probably damaging |
Het |
Katnb1 |
T |
A |
8: 95,824,787 (GRCm39) |
L569Q |
probably damaging |
Het |
Nedd1 |
C |
T |
10: 92,534,031 (GRCm39) |
|
probably null |
Het |
Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,997 (GRCm39) |
I214N |
probably damaging |
Het |
Pdcd4 |
G |
A |
19: 53,917,552 (GRCm39) |
R463H |
probably benign |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,637,120 (GRCm39) |
V364A |
probably benign |
Het |
Rps19bp1 |
A |
G |
15: 80,145,532 (GRCm39) |
M84T |
probably benign |
Het |
Sass6 |
A |
T |
3: 116,398,847 (GRCm39) |
D43V |
probably damaging |
Het |
Senp6 |
G |
A |
9: 80,029,290 (GRCm39) |
S551N |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,889,908 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
C |
T |
11: 60,674,671 (GRCm39) |
R816C |
possibly damaging |
Het |
Trappc8 |
A |
T |
18: 20,970,103 (GRCm39) |
N962K |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,656,604 (GRCm39) |
E677G |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,195,998 (GRCm39) |
P961T |
probably damaging |
Het |
Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
Vps41 |
T |
C |
13: 18,966,897 (GRCm39) |
|
probably benign |
Het |
Vwf |
A |
T |
6: 125,568,128 (GRCm39) |
D341V |
probably damaging |
Het |
Zfp618 |
C |
T |
4: 62,998,133 (GRCm39) |
P45L |
probably benign |
Het |
|
Other mutations in Sh2d2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01369:Sh2d2a
|
APN |
3 |
87,759,136 (GRCm39) |
missense |
probably benign |
0.00 |
R0178:Sh2d2a
|
UTSW |
3 |
87,756,730 (GRCm39) |
missense |
probably benign |
0.24 |
R0522:Sh2d2a
|
UTSW |
3 |
87,754,416 (GRCm39) |
critical splice donor site |
probably null |
|
R0545:Sh2d2a
|
UTSW |
3 |
87,759,195 (GRCm39) |
splice site |
probably benign |
|
R1977:Sh2d2a
|
UTSW |
3 |
87,759,123 (GRCm39) |
nonsense |
probably null |
|
R3076:Sh2d2a
|
UTSW |
3 |
87,759,477 (GRCm39) |
missense |
probably benign |
|
R3684:Sh2d2a
|
UTSW |
3 |
87,759,027 (GRCm39) |
splice site |
probably null |
|
R4981:Sh2d2a
|
UTSW |
3 |
87,756,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5082:Sh2d2a
|
UTSW |
3 |
87,759,091 (GRCm39) |
missense |
probably benign |
0.12 |
R5315:Sh2d2a
|
UTSW |
3 |
87,754,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5789:Sh2d2a
|
UTSW |
3 |
87,756,820 (GRCm39) |
intron |
probably benign |
|
R7189:Sh2d2a
|
UTSW |
3 |
87,755,668 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9180:Sh2d2a
|
UTSW |
3 |
87,759,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9210:Sh2d2a
|
UTSW |
3 |
87,756,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R9480:Sh2d2a
|
UTSW |
3 |
87,759,638 (GRCm39) |
missense |
probably benign |
0.01 |
R9661:Sh2d2a
|
UTSW |
3 |
87,756,788 (GRCm39) |
critical splice donor site |
probably null |
|
X0062:Sh2d2a
|
UTSW |
3 |
87,755,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-12-09 |