Incidental Mutation 'IGL02474:Skap1'
ID |
294845 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Skap1
|
Ensembl Gene |
ENSMUSG00000057058 |
Gene Name |
src family associated phosphoprotein 1 |
Synonyms |
1700091G21Rik, Skap-55 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
IGL02474
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96355419-96649956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 96599512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 188
(Y188F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071510]
[ENSMUST00000100521]
[ENSMUST00000103154]
|
AlphaFold |
Q3UUV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071510
AA Change: Y188F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071445 Gene: ENSMUSG00000057058 AA Change: Y188F
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: Y188F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098090 Gene: ENSMUSG00000057058 AA Change: Y188F
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: Y188F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099443 Gene: ENSMUSG00000057058 AA Change: Y188F
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 |
noncoding transcript
Transcript: ENSMUST00000123814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127639
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136836
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181758
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
A |
G |
17: 14,038,491 (GRCm39) |
E283G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,982,297 (GRCm39) |
I1194V |
probably benign |
Het |
Aqr |
T |
A |
2: 113,943,127 (GRCm39) |
N1149Y |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
Cacna1s |
A |
C |
1: 136,046,118 (GRCm39) |
T1461P |
probably benign |
Het |
Chrnb3 |
T |
C |
8: 27,883,397 (GRCm39) |
S113P |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
Cramp1 |
A |
G |
17: 25,204,024 (GRCm39) |
V318A |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,214,975 (GRCm39) |
V163A |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,669,708 (GRCm39) |
D439G |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 117,991,180 (GRCm39) |
|
probably null |
Het |
Dyrk4 |
C |
A |
6: 126,857,194 (GRCm39) |
C495F |
probably damaging |
Het |
Gabra6 |
A |
G |
11: 42,198,244 (GRCm39) |
V402A |
probably benign |
Het |
Gba2 |
T |
C |
4: 43,568,538 (GRCm39) |
M643V |
possibly damaging |
Het |
Gbp9 |
A |
T |
5: 105,242,433 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
A |
G |
10: 7,653,532 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
A |
11: 77,394,217 (GRCm39) |
D282E |
probably damaging |
Het |
Gm5799 |
T |
C |
14: 43,782,086 (GRCm39) |
I86T |
probably damaging |
Het |
Gm9894 |
T |
C |
13: 67,913,213 (GRCm39) |
|
noncoding transcript |
Het |
Gng12 |
A |
G |
6: 66,992,745 (GRCm39) |
K4R |
probably benign |
Het |
Hnrnpul1 |
A |
T |
7: 25,426,182 (GRCm39) |
D556E |
probably benign |
Het |
Kat6b |
T |
A |
14: 21,719,107 (GRCm39) |
L1153Q |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,213,526 (GRCm39) |
L17Q |
probably null |
Het |
Mc5r |
T |
C |
18: 68,471,910 (GRCm39) |
F90L |
probably damaging |
Het |
Or1x2 |
C |
A |
11: 50,918,192 (GRCm39) |
A121D |
probably damaging |
Het |
Or5k8 |
A |
T |
16: 58,645,019 (GRCm39) |
S18T |
probably benign |
Het |
Or6b13 |
T |
C |
7: 139,782,500 (GRCm39) |
Y61C |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,682,897 (GRCm39) |
M284K |
probably damaging |
Het |
Or8b9 |
A |
T |
9: 37,766,656 (GRCm39) |
I181L |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,143,293 (GRCm39) |
Y6N |
probably damaging |
Het |
Polr2g |
C |
A |
19: 8,775,820 (GRCm39) |
|
probably null |
Het |
Psme3 |
A |
G |
11: 101,208,480 (GRCm39) |
Q82R |
probably benign |
Het |
Rab11a |
G |
T |
9: 64,633,929 (GRCm39) |
T17K |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,940,017 (GRCm39) |
L85Q |
probably damaging |
Het |
Tmprss6 |
A |
T |
15: 78,326,536 (GRCm39) |
F34I |
probably damaging |
Het |
Trip12 |
A |
C |
1: 84,771,854 (GRCm39) |
I98S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,708,532 (GRCm39) |
|
probably benign |
Het |
Ube2t |
A |
T |
1: 134,899,079 (GRCm39) |
K21* |
probably null |
Het |
Vmn1r216 |
T |
C |
13: 23,283,647 (GRCm39) |
V110A |
possibly damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,150 (GRCm39) |
F736I |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,845,158 (GRCm39) |
T2081A |
probably benign |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
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 |
|
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 |
|
Posted On |
2015-04-16 |