Incidental Mutation 'R5315:Sh2d2a'
| ID |
405783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh2d2a
|
| Ensembl Gene |
ENSMUSG00000028071 |
| Gene Name |
SH2 domain containing 2A |
| Synonyms |
Rlk/Itk-binding protein, Lad, Lck-associated adapter protein, TSAd, RIBP |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87754062-87763029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87754976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 23
(T23P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029709]
[ENSMUST00000107581]
|
| AlphaFold |
Q9QXK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029709
AA Change: T23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029709
Gene: ENSMUSG00000028071
AA Change: T23P
| 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: T23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103207
Gene: ENSMUSG00000028071
AA Change: T23P
| 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 |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
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 |
|
IGL01563:Sh2d2a
|
APN |
3 |
87,759,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTGGTACACACTTGCAC -3'
(R):5'- CCCAGCTTGCATTTTGACATGG -3'
Sequencing Primer
(F):5'- GGTACACACTTGCACTTCTCCTG -3'
(R):5'- ATGGGTTCATGTGCACACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation