Incidental Mutation 'R0946:Skap1'
ID |
82119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skap1
|
Ensembl Gene |
ENSMUSG00000057058 |
Gene Name |
src family associated phosphoprotein 1 |
Synonyms |
1700091G21Rik, Skap-55 |
MMRRC Submission |
039085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R0946 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
96355419-96649956 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to G
at 96432295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 88
(S88*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071510]
[ENSMUST00000100521]
[ENSMUST00000103154]
[ENSMUST00000107662]
[ENSMUST00000107663]
|
AlphaFold |
Q3UUV5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071510
AA Change: S88*
|
SMART Domains |
Protein: ENSMUSP00000071445 Gene: ENSMUSG00000057058 AA Change: S88*
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
PH
|
108 |
212 |
1.46e-24 |
SMART |
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
SH3
|
277 |
334 |
2.56e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100521
AA Change: S88*
|
SMART Domains |
Protein: ENSMUSP00000098090 Gene: ENSMUSG00000057058 AA Change: S88*
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
PH
|
108 |
212 |
1.46e-24 |
SMART |
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
SH3
|
277 |
314 |
2.64e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103154
AA Change: S88*
|
SMART Domains |
Protein: ENSMUSP00000099443 Gene: ENSMUSG00000057058 AA Change: S88*
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
PH
|
108 |
212 |
1.46e-24 |
SMART |
low complexity region
|
220 |
235 |
N/A |
INTRINSIC |
low complexity region
|
271 |
280 |
N/A |
INTRINSIC |
SH3
|
293 |
350 |
2.56e-14 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107662
AA Change: S88*
|
SMART Domains |
Protein: ENSMUSP00000103289 Gene: ENSMUSG00000057058 AA Change: S88*
Domain | Start | End | E-Value | Type |
Blast:PH
|
40 |
114 |
5e-20 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107663
AA Change: S88*
|
SMART Domains |
Protein: ENSMUSP00000103290 Gene: ENSMUSG00000057058 AA Change: S88*
Domain | Start | End | E-Value | Type |
PDB:2OTX|B
|
7 |
57 |
1e-6 |
PDB |
Blast:PH
|
40 |
94 |
7e-20 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127639
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136836
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased T cell aggregation, adhesion and proliferation following stimulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230112D13Rik |
A |
G |
14: 34,234,099 (GRCm39) |
M64T |
unknown |
Het |
Adamts15 |
C |
T |
9: 30,813,493 (GRCm39) |
G891R |
probably damaging |
Het |
Adck5 |
G |
A |
15: 76,477,486 (GRCm39) |
V107I |
possibly damaging |
Het |
Aoc3 |
G |
A |
11: 101,223,131 (GRCm39) |
V456M |
possibly damaging |
Het |
Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,654,442 (GRCm39) |
H693R |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,406,509 (GRCm39) |
T414A |
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
Coasy |
G |
T |
11: 100,976,696 (GRCm39) |
V489F |
probably damaging |
Het |
Ercc6 |
A |
T |
14: 32,274,578 (GRCm39) |
M574L |
probably benign |
Het |
Esrrb |
T |
C |
12: 86,552,598 (GRCm39) |
L180P |
probably damaging |
Het |
Fam83b |
A |
T |
9: 76,398,679 (GRCm39) |
V808D |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,909,100 (GRCm39) |
V2301I |
possibly damaging |
Het |
Ftdc1 |
C |
A |
16: 58,435,075 (GRCm39) |
R83S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,755,912 (GRCm39) |
Y43* |
probably null |
Het |
Hydin |
C |
A |
8: 111,257,685 (GRCm39) |
L2372M |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,809 (GRCm39) |
V145A |
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
Muc21 |
A |
C |
17: 35,929,105 (GRCm39) |
S1581A |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,142,577 (GRCm39) |
I913V |
possibly damaging |
Het |
Nat10 |
C |
T |
2: 103,561,719 (GRCm39) |
G654D |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
Nup50l |
A |
T |
6: 96,142,677 (GRCm39) |
N122K |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,128 (GRCm39) |
Y503C |
unknown |
Het |
Or11g7 |
C |
A |
14: 50,691,130 (GRCm39) |
T207K |
probably benign |
Het |
Pappa |
G |
T |
4: 65,233,029 (GRCm39) |
|
probably null |
Het |
Pfas |
A |
G |
11: 68,884,121 (GRCm39) |
|
probably null |
Het |
Pfas |
G |
T |
11: 68,881,573 (GRCm39) |
|
probably null |
Het |
Pign |
A |
T |
1: 105,519,422 (GRCm39) |
M500K |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,269,605 (GRCm39) |
K3313R |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,396,047 (GRCm39) |
V807A |
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
Rfpl4b |
A |
T |
10: 38,696,833 (GRCm39) |
I256N |
probably benign |
Het |
Slc4a2 |
T |
C |
5: 24,640,884 (GRCm39) |
S742P |
probably damaging |
Het |
Supv3l1 |
T |
C |
10: 62,265,599 (GRCm39) |
D647G |
probably damaging |
Het |
Tmem184c |
A |
C |
8: 78,331,386 (GRCm39) |
V121G |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,507,421 (GRCm39) |
I118V |
probably benign |
Het |
Top1 |
T |
A |
2: 160,554,588 (GRCm39) |
Y446* |
probably null |
Het |
Trim37 |
A |
G |
11: 87,037,781 (GRCm39) |
R172G |
probably damaging |
Het |
Vgll4 |
C |
A |
6: 114,867,768 (GRCm39) |
|
probably null |
Het |
Vgll4 |
T |
A |
6: 114,867,769 (GRCm39) |
|
probably null |
Het |
Vmn1r5 |
T |
G |
6: 56,963,150 (GRCm39) |
I275S |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,187,874 (GRCm39) |
H584Q |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp282 |
T |
A |
6: 47,856,943 (GRCm39) |
W59R |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,754,103 (GRCm39) |
T186S |
probably benign |
Het |
|
Other mutations in Skap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Skap1
|
APN |
11 |
96,380,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00565:Skap1
|
APN |
11 |
96,622,016 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00565:Skap1
|
APN |
11 |
96,621,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02351:Skap1
|
APN |
11 |
96,599,382 (GRCm39) |
splice site |
probably null |
|
IGL02474:Skap1
|
APN |
11 |
96,599,512 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02797:Skap1
|
APN |
11 |
96,603,843 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03025:Skap1
|
APN |
11 |
96,593,508 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03115:Skap1
|
APN |
11 |
96,593,446 (GRCm39) |
missense |
probably benign |
0.00 |
R0601:Skap1
|
UTSW |
11 |
96,614,236 (GRCm39) |
splice site |
probably benign |
|
R0741:Skap1
|
UTSW |
11 |
96,383,759 (GRCm39) |
intron |
probably benign |
|
R2051:Skap1
|
UTSW |
11 |
96,432,289 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2132:Skap1
|
UTSW |
11 |
96,355,559 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4130:Skap1
|
UTSW |
11 |
96,416,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Skap1
|
UTSW |
11 |
96,644,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R5893:Skap1
|
UTSW |
11 |
96,472,224 (GRCm39) |
makesense |
probably null |
|
R6207:Skap1
|
UTSW |
11 |
96,594,959 (GRCm39) |
nonsense |
probably null |
|
R6577:Skap1
|
UTSW |
11 |
96,416,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Skap1
|
UTSW |
11 |
96,416,883 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8912:Skap1
|
UTSW |
11 |
96,644,902 (GRCm39) |
missense |
probably damaging |
0.98 |
R9377:Skap1
|
UTSW |
11 |
96,644,921 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9576:Skap1
|
UTSW |
11 |
96,472,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCGCACACAGGTAAGGTAAGTTGG -3'
(R):5'- CCACAGCAAAGCAAGTAGGTGCTC -3'
Sequencing Primer
(F):5'- ATCAAGTAAGGGATGCTGCTGTC -3'
(R):5'- AAGTAGGTGCTCTTTGCCCAC -3'
|
Posted On |
2013-11-08 |