Incidental Mutation 'R2383:Sla'
| ID |
247617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sla
|
| Ensembl Gene |
ENSMUSG00000022372 |
| Gene Name |
src-like adaptor |
| Synonyms |
Slap-1, Slap |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
66652668-66703678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66654525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 254
(I254F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065916]
[ENSMUST00000100572]
[ENSMUST00000163495]
[ENSMUST00000164163]
[ENSMUST00000168522]
[ENSMUST00000168589]
[ENSMUST00000171045]
|
| AlphaFold |
Q60898 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065916
|
| SMART Domains |
Protein: ENSMUSP00000070239
Gene: ENSMUSG00000053469
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
TY
|
50 |
97 |
5.9e-16 |
SMART |
|
TY
|
118 |
165 |
5.59e-17 |
SMART |
|
Pfam:Thyroglobulin_1
|
174 |
252 |
4e-9 |
PFAM |
|
TY
|
317 |
363 |
4.36e-19 |
SMART |
|
low complexity region
|
495 |
504 |
N/A |
INTRINSIC |
|
TY
|
617 |
662 |
3.58e-15 |
SMART |
|
TY
|
684 |
730 |
1.47e-16 |
SMART |
|
TY
|
880 |
926 |
1.51e-4 |
SMART |
|
TY
|
1029 |
1078 |
1.21e-12 |
SMART |
|
TY
|
1106 |
1150 |
7.56e-5 |
SMART |
|
TY
|
1167 |
1215 |
7.26e-16 |
SMART |
|
low complexity region
|
1244 |
1255 |
N/A |
INTRINSIC |
|
Pfam:GCC2_GCC3
|
1464 |
1509 |
2.7e-16 |
PFAM |
|
TY
|
1519 |
1568 |
9.81e-13 |
SMART |
|
Pfam:COesterase
|
2181 |
2717 |
8.4e-140 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100572
AA Change: I238F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: I238F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
SH3
|
25 |
81 |
2.5e-6 |
SMART |
|
SH2
|
82 |
166 |
4.1e-31 |
SMART |
|
low complexity region
|
247 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163495
|
| SMART Domains |
Protein: ENSMUSP00000129868
Gene: ENSMUSG00000053469
| Domain | Start | End | E-Value | Type |
|---|
|
TY
|
14 |
63 |
1.21e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164163
AA Change: I238F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: I238F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
SH3
|
25 |
81 |
2.5e-6 |
SMART |
|
SH2
|
82 |
166 |
4.1e-31 |
SMART |
|
low complexity region
|
247 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164939
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168522
AA Change: I254F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: I254F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
SH3
|
41 |
97 |
4.1e-4 |
SMART |
|
SH2
|
98 |
182 |
6.67e-29 |
SMART |
|
low complexity region
|
263 |
276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168589
AA Change: I238F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: I238F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
SH3
|
25 |
81 |
2.5e-6 |
SMART |
|
SH2
|
82 |
166 |
4.1e-31 |
SMART |
|
low complexity region
|
247 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171045
|
| SMART Domains |
Protein: ENSMUSP00000126454
Gene: ENSMUSG00000053469
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
93 |
331 |
1.53e-6 |
PROSPERO |
|
Pfam:COesterase
|
562 |
1098 |
2.1e-137 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172153
|
| SMART Domains |
Protein: ENSMUSP00000128410
Gene: ENSMUSG00000053469
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
313 |
849 |
6e-140 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation in this locus affects T cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,893,282 (GRCm39) |
T748A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,556,026 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,208 (GRCm39) |
E345K |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,153,168 (GRCm39) |
I227V |
possibly damaging |
Het |
| Cndp2 |
C |
A |
18: 84,693,215 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,310,913 (GRCm39) |
|
probably benign |
Het |
| Cyp2e1 |
C |
T |
7: 140,349,981 (GRCm39) |
S222L |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,488,393 (GRCm39) |
|
probably null |
Het |
| Kics2 |
A |
G |
10: 121,586,554 (GRCm39) |
T290A |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,959 (GRCm39) |
E718G |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,830,960 (GRCm39) |
S296P |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,429,590 (GRCm39) |
G162D |
probably damaging |
Het |
| Nap1l1 |
T |
G |
10: 111,329,272 (GRCm39) |
D295E |
probably damaging |
Het |
| Or2f1b |
A |
T |
6: 42,739,393 (GRCm39) |
M136L |
probably benign |
Het |
| Plrg1 |
C |
T |
3: 82,973,255 (GRCm39) |
P178S |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,539 (GRCm39) |
I402F |
probably benign |
Het |
| Slc25a29 |
A |
G |
12: 108,792,934 (GRCm39) |
S215P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,854 (GRCm39) |
S459P |
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,595,572 (GRCm39) |
V1303A |
probably benign |
Het |
| Trim45 |
A |
T |
3: 100,832,543 (GRCm39) |
I259F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,536,856 (GRCm39) |
S34990G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,111,407 (GRCm39) |
V36A |
probably damaging |
Het |
|
| Other mutations in Sla |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Sla
|
APN |
15 |
66,654,479 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03180:Sla
|
APN |
15 |
66,661,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
crimson
|
UTSW |
15 |
66,665,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hearst
|
UTSW |
15 |
66,658,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Sla
|
UTSW |
15 |
66,664,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2019:Sla
|
UTSW |
15 |
66,654,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Sla
|
UTSW |
15 |
66,654,563 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3442:Sla
|
UTSW |
15 |
66,655,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4495:Sla
|
UTSW |
15 |
66,673,361 (GRCm39) |
missense |
probably benign |
|
|
R5851:Sla
|
UTSW |
15 |
66,655,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5935:Sla
|
UTSW |
15 |
66,665,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Sla
|
UTSW |
15 |
66,654,447 (GRCm39) |
missense |
probably null |
0.03 |
|
R6837:Sla
|
UTSW |
15 |
66,658,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Sla
|
UTSW |
15 |
66,703,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8813:Sla
|
UTSW |
15 |
66,664,127 (GRCm39) |
missense |
probably benign |
0.10 |
|
RF022:Sla
|
UTSW |
15 |
66,654,593 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGACCCCAGGTGACAGTC -3'
(R):5'- GCCCACCATTGCAAGAAATG -3'
Sequencing Primer
(F):5'- CCAGGTGACAGTCAAAGCCTTTG -3'
(R):5'- GCTACAAAAATCTAACCTCCTTTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation