Incidental Mutation 'IGL00225:Sla'
| ID |
2133 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
66652668-66703678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66654479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
| 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 benign
Transcript: ENSMUST00000100572
AA Change: D253G
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: D253G
| 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 benign
Transcript: ENSMUST00000164163
AA Change: D253G
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: D253G
| 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 |
possibly damaging
Transcript: ENSMUST00000168522
AA Change: D269G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: D269G
| 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 benign
Transcript: ENSMUST00000168589
AA Change: D253G
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: D253G
| 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 |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Flii |
T |
C |
11: 60,614,241 (GRCm39) |
N93D |
probably benign |
Het |
| Gm8356 |
T |
C |
14: 17,693,287 (GRCm39) |
K24E |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,901,225 (GRCm39) |
T409M |
probably damaging |
Het |
| Ivns1abp |
A |
G |
1: 151,226,863 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kdm4c |
T |
G |
4: 74,263,804 (GRCm39) |
V696G |
probably benign |
Het |
| Klrb1f |
T |
A |
6: 129,030,138 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,325,371 (GRCm39) |
V1399I |
probably benign |
Het |
| LTO1 |
G |
A |
7: 144,471,405 (GRCm39) |
G86D |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,291,849 (GRCm39) |
V3168A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,286,731 (GRCm39) |
I177K |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,506,533 (GRCm39) |
N371K |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,123 (GRCm39) |
Y260H |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,311 (GRCm39) |
P129L |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,627,508 (GRCm39) |
V3389L |
possibly damaging |
Het |
| Prr16 |
T |
A |
18: 51,436,192 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,231 (GRCm39) |
C39Y |
probably damaging |
Het |
| Stk38l |
T |
A |
6: 146,659,971 (GRCm39) |
M1K |
probably null |
Het |
| Trim24 |
T |
A |
6: 37,880,583 (GRCm39) |
N160K |
possibly damaging |
Het |
| Zfp451 |
A |
G |
1: 33,825,621 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sla |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2383:Sla
|
UTSW |
15 |
66,654,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation