Incidental Mutation 'R0992:Sla2'
ID |
97753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sla2
|
Ensembl Gene |
ENSMUSG00000027636 |
Gene Name |
Src-like-adaptor 2 |
Synonyms |
A930009E21Rik, SLAP2, SLAP-2 |
MMRRC Submission |
039112-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0992 (G1)
|
Quality Score |
96 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156716071-156729161 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156716392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 243
(E243G)
|
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: E243G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029164 Gene: ENSMUSG00000027636 AA Change: E243G
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: E243G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105189 Gene: ENSMUSG00000027636 AA Change: E243G
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,102,510 (GRCm39) |
T905A |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,728,086 (GRCm39) |
R100G |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,991,553 (GRCm39) |
R1400* |
probably null |
Het |
Clstn2 |
A |
G |
9: 97,327,765 (GRCm39) |
S948P |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,300,491 (GRCm39) |
V1029M |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disc1 |
T |
C |
8: 125,814,781 (GRCm39) |
I215T |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dst |
A |
G |
1: 34,238,617 (GRCm39) |
N3773S |
probably damaging |
Het |
Gdap1 |
A |
G |
1: 17,217,329 (GRCm39) |
Y96C |
probably damaging |
Het |
Glipr1l1 |
A |
G |
10: 111,898,230 (GRCm39) |
R112G |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,795,238 (GRCm39) |
S13P |
probably benign |
Het |
Noxred1 |
T |
C |
12: 87,271,000 (GRCm39) |
N207S |
probably benign |
Het |
Pom121l2 |
A |
T |
13: 22,166,929 (GRCm39) |
Q400L |
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,750,541 (GRCm39) |
I54T |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Trim15 |
C |
T |
17: 37,175,903 (GRCm39) |
V215M |
probably damaging |
Het |
Uchl3 |
T |
C |
14: 101,905,969 (GRCm39) |
I144T |
probably benign |
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 |
|
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 |
R2843: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'- AACTGCACTGCACATGGACTAGAAG -3'
(R):5'- ACAATGGGGCTGTCACATTCAGGG -3'
Sequencing Primer
(F):5'- TGACTTATCAGAAAGCCCAGGTG -3'
(R):5'- TCACAGTCCTGCATAGGGAG -3'
|
Posted On |
2014-01-05 |