Incidental Mutation 'R6577:Skap1'
| ID |
523552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skap1
|
| Ensembl Gene |
ENSMUSG00000057058 |
| Gene Name |
src family associated phosphoprotein 1 |
| Synonyms |
1700091G21Rik, Skap-55 |
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96355419-96649956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96416870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 52
(Y52H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071510]
[ENSMUST00000100521]
[ENSMUST00000103154]
[ENSMUST00000107662]
[ENSMUST00000107663]
|
| AlphaFold |
Q3UUV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071510
AA Change: Y52H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: Y52H
| 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 damaging
Transcript: ENSMUST00000100521
AA Change: Y52H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: Y52H
| 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 damaging
Transcript: ENSMUST00000103154
AA Change: Y52H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: Y52H
| 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 damaging
Transcript: ENSMUST00000107662
AA Change: Y52H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103289
Gene: ENSMUSG00000057058
AA Change: Y52H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
40 |
114 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107663
AA Change: Y52H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103290
Gene: ENSMUSG00000057058
AA Change: Y52H
| 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
|
| Meta Mutation Damage Score |
0.3346 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
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 |
|
|
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 |
|
|
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'- CTTTGCTGAGTCATTGCAGCAC -3'
(R):5'- CGCCTCTCATTGCTGAAATAG -3'
Sequencing Primer
(F):5'- GCTGAGTCATTGCAGCACATTTATG -3'
(R):5'- CTGAAATAGCAGGGCAGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation