Incidental Mutation 'R4495:Sla'
| ID |
330943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sla
|
| Ensembl Gene |
ENSMUSG00000022372 |
| Gene Name |
src-like adaptor |
| Synonyms |
Slap-1, Slap |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4495 (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 C
at 66673361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 10
(T10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065916]
[ENSMUST00000100572]
[ENSMUST00000163495]
[ENSMUST00000164163]
[ENSMUST00000166403]
[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
|
| SMART Domains |
Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
| 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
|
| SMART Domains |
Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
| 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 benign
Transcript: ENSMUST00000166403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168522
AA Change: T10A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: T10A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
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 |
|
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 |
|
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'- TGTCACACAGGTACCCACTG -3'
(R):5'- TGTCTGTCATCCCCTTGATAAAAG -3'
Sequencing Primer
(F):5'- TGCCCAGTTTTAACAAGAGCC -3'
(R):5'- AAAGAATTTGAGCTGTGCCTCTGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation