Incidental Mutation 'R6837:Sla'
| ID |
537916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sla
|
| Ensembl Gene |
ENSMUSG00000022372 |
| Gene Name |
src-like adaptor |
| Synonyms |
Slap-1, Slap |
| MMRRC Submission |
044945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
66652668-66703678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66658939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 144
(I144N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065916]
[ENSMUST00000100572]
[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: I144N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: I144N
| 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 damaging
Transcript: ENSMUST00000164163
AA Change: I144N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: I144N
| 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 damaging
Transcript: ENSMUST00000168522
AA Change: I160N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: I160N
| 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: I144N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: I144N
| 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 |
|
| Meta Mutation Damage Score |
0.9515 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 53,188,045 (GRCm39) |
E1820K |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,814,511 (GRCm39) |
I116F |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,122,289 (GRCm39) |
D890G |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,034,279 (GRCm39) |
T396I |
possibly damaging |
Het |
| C2cd3 |
G |
C |
7: 100,097,953 (GRCm39) |
E594Q |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,382,579 (GRCm39) |
P477L |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,429,542 (GRCm39) |
D20N |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,570,947 (GRCm39) |
I109T |
probably benign |
Het |
| Fas |
A |
T |
19: 34,284,564 (GRCm39) |
T24S |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,874,832 (GRCm39) |
I2332F |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,291,375 (GRCm39) |
H32R |
probably benign |
Het |
| Gm57859 |
A |
G |
11: 113,579,439 (GRCm39) |
H278R |
possibly damaging |
Het |
| Hcfc2 |
A |
T |
10: 82,575,030 (GRCm39) |
I230F |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,337,463 (GRCm39) |
T673A |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,839,589 (GRCm39) |
N3366K |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,820,334 (GRCm39) |
N139D |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,136,928 (GRCm39) |
E632G |
possibly damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,294,407 (GRCm39) |
D98G |
probably damaging |
Het |
| Maip1 |
T |
A |
1: 57,454,891 (GRCm39) |
*292K |
probably null |
Het |
| Map2 |
T |
C |
1: 66,453,731 (GRCm39) |
F874L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,911,404 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 97,978,170 (GRCm39) |
|
probably null |
Het |
| Npy5r |
T |
A |
8: 67,134,392 (GRCm39) |
M134L |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,709,710 (GRCm39) |
M225K |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,847,527 (GRCm39) |
T634I |
probably damaging |
Het |
| Or51f1d |
T |
A |
7: 102,700,929 (GRCm39) |
Y141* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,416,448 (GRCm39) |
S1667G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,599,527 (GRCm39) |
I328T |
possibly damaging |
Het |
| Pkd2 |
T |
G |
5: 104,624,909 (GRCm39) |
L235W |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,156,292 (GRCm39) |
D66V |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,044 (GRCm39) |
N105S |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 75,898,220 (GRCm39) |
I498N |
possibly damaging |
Het |
| Snx14 |
C |
T |
9: 88,262,276 (GRCm39) |
E872K |
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,795 (GRCm39) |
R242H |
probably benign |
Het |
| Tg |
T |
C |
15: 66,567,984 (GRCm39) |
F1296S |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,153,542 (GRCm39) |
T177M |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,194,038 (GRCm39) |
Q14R |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,176 (GRCm39) |
M309V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,817,504 (GRCm39) |
P1059S |
probably benign |
Het |
| Yars1 |
T |
A |
4: 129,103,544 (GRCm39) |
S298T |
possibly 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 |
|
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 |
|
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'- TTTAGCTGAGGAAATGAGCTAGC -3'
(R):5'- GCTGGCCAAGTCACATGTAGAAG -3'
Sequencing Primer
(F):5'- GCTAGCATATGAAGATGACAACAC -3'
(R):5'- GTCACATGTAGAAGCTCCATAGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation