Incidental Mutation 'R2843:Sla2'
| ID |
254367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sla2
|
| Ensembl Gene |
ENSMUSG00000027636 |
| Gene Name |
Src-like-adaptor 2 |
| Synonyms |
A930009E21Rik, SLAP2, SLAP-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156716071-156729161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 156717862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 137
(R137C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029164]
[ENSMUST00000029165]
[ENSMUST00000109561]
|
| AlphaFold |
Q8R4L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029164
AA Change: R137C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029164
Gene: ENSMUSG00000027636
AA Change: R137C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
SH3
|
34 |
90 |
2.9e-4 |
SMART |
|
SH2
|
91 |
181 |
4.47e-30 |
SMART |
|
low complexity region
|
203 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029165
|
| SMART Domains |
Protein: ENSMUSP00000029165
Gene: ENSMUSG00000027637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5ip
|
44 |
123 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109561
AA Change: R137C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105189
Gene: ENSMUSG00000027636
AA Change: R137C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
SH3
|
34 |
90 |
2.9e-4 |
SMART |
|
SH2
|
91 |
181 |
4.47e-30 |
SMART |
|
low complexity region
|
203 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152551
|
| Meta Mutation Damage Score |
0.3138 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal B and T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
C |
T |
5: 90,674,324 (GRCm39) |
R279* |
probably null |
Het |
| Arhgef18 |
A |
G |
8: 3,414,634 (GRCm39) |
E4G |
possibly damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,883,527 (GRCm39) |
R486Q |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Hmg20b |
G |
C |
10: 81,182,404 (GRCm39) |
R209G |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Jade1 |
T |
C |
3: 41,559,280 (GRCm39) |
Y454H |
probably damaging |
Het |
| Kcnn3 |
CGCAGCAGCAGCAGCAGCAGCAG |
CGCAGCAGCAGCAGCAGCAG |
3: 89,427,972 (GRCm39) |
|
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,403,549 (GRCm39) |
V288I |
probably benign |
Het |
| Pknox2 |
T |
C |
9: 36,805,624 (GRCm39) |
N395S |
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Rad51 |
T |
C |
2: 118,949,114 (GRCm39) |
V38A |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,749 (GRCm39) |
T582S |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sla2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Prospect
|
UTSW |
2 |
156,717,823 (GRCm39) |
nonsense |
probably null |
|
|
R0109:Sla2
|
UTSW |
2 |
156,725,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0109:Sla2
|
UTSW |
2 |
156,725,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0992:Sla2
|
UTSW |
2 |
156,716,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2250:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2378:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2379:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3499:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3878:Sla2
|
UTSW |
2 |
156,717,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5664:Sla2
|
UTSW |
2 |
156,716,919 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6784:Sla2
|
UTSW |
2 |
156,725,589 (GRCm39) |
missense |
unknown |
|
|
R7356:Sla2
|
UTSW |
2 |
156,720,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8797:Sla2
|
UTSW |
2 |
156,717,823 (GRCm39) |
nonsense |
probably null |
|
|
R8797:Sla2
|
UTSW |
2 |
156,717,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Sla2
|
UTSW |
2 |
156,717,885 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACTGACTATCTCCTAGGCC -3'
(R):5'- AGCCGATATTTAATGCTCACCC -3'
Sequencing Primer
(F):5'- CCCTCATCCAGTCTGCAGTGG -3'
(R):5'- TAATGCTCACCCATCCTGAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation