Incidental Mutation 'R0741:Skap1'
| ID |
474108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skap1
|
| Ensembl Gene |
ENSMUSG00000057058 |
| Gene Name |
src family associated phosphoprotein 1 |
| Synonyms |
1700091G21Rik, Skap-55 |
| MMRRC Submission |
038922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R0741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96355419-96649956 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 96383759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071510]
[ENSMUST00000100519]
[ENSMUST00000100521]
[ENSMUST00000103154]
[ENSMUST00000107662]
[ENSMUST00000107663]
|
| AlphaFold |
Q3UUV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071510
|
| SMART Domains |
Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
| 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 |
unknown
Transcript: ENSMUST00000100519
AA Change: Q70H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100521
|
| SMART Domains |
Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
| 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 benign
Transcript: ENSMUST00000103154
|
| SMART Domains |
Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
| 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 benign
Transcript: ENSMUST00000107662
|
| SMART Domains |
Protein: ENSMUSP00000103289
Gene: ENSMUSG00000057058
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
40 |
114 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107663
|
| SMART Domains |
Protein: ENSMUSP00000103290
Gene: ENSMUSG00000057058
| 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: ENSMUST00000149988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136836
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
| Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
| Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
| Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
| Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
| Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
| Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
| Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
| Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
| Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
| Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
| Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
| Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
| Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
| Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
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 |
|
|
R0946:Skap1
|
UTSW |
11 |
96,432,295 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation