Incidental Mutation 'IGL03025:Skap1'
| ID |
408144 |
| 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 # |
IGL03025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96355419-96649956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96593508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 118
(S118R)
|
| 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: S118R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: S118R
| 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: S118R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: S118R
| 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: S118R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: S118R
| 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: ENSMUST00000127639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136836
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
| Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
| Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
| Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
| Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
| Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
| Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
| Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
| Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
| Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
| Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
| Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
| Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
| Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
| Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
| Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
|
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 |
2016-08-02 |
Incidental Mutation