Incidental Mutation 'IGL00235:Skap1'
| ID |
2212 |
| 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: 0.206)
|
| Stock # |
IGL00235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96355419-96649956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96380736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 45
(F45S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071510]
[ENSMUST00000100519]
[ENSMUST00000100521]
[ENSMUST00000103154]
[ENSMUST00000107662]
[ENSMUST00000107663]
|
| AlphaFold |
Q3UUV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071510
AA Change: F45S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071445
Gene: ENSMUSG00000057058
AA Change: F45S
| 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: ENSMUST00000100519
AA Change: F45S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100521
AA Change: F45S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098090
Gene: ENSMUSG00000057058
AA Change: F45S
| 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: F45S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099443
Gene: ENSMUSG00000057058
AA Change: F45S
| 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: F45S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103289
Gene: ENSMUSG00000057058
AA Change: F45S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
40 |
114 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107663
AA Change: F45S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103290
Gene: ENSMUSG00000057058
AA Change: F45S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149988
|
| 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 |
|---|
| Adcy5 |
G |
A |
16: 35,073,583 (GRCm39) |
E454K |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,565,132 (GRCm39) |
H1039R |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,694 (GRCm39) |
F438L |
probably benign |
Het |
| Casp1 |
A |
T |
9: 5,299,872 (GRCm39) |
|
probably benign |
Het |
| Cnih2 |
G |
T |
19: 5,148,301 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,407,950 (GRCm39) |
R1961C |
probably damaging |
Het |
| Defb21 |
G |
A |
2: 152,416,712 (GRCm39) |
V63I |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,422,025 (GRCm39) |
N105K |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,376,493 (GRCm39) |
E402V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,398 (GRCm39) |
I3350N |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,913,171 (GRCm39) |
F149L |
probably damaging |
Het |
| Gucy1b2 |
C |
A |
14: 62,643,694 (GRCm39) |
V636F |
probably damaging |
Het |
| Hapln1 |
A |
C |
13: 89,756,261 (GRCm39) |
Y355S |
probably benign |
Het |
| Hoxb13 |
G |
T |
11: 96,085,468 (GRCm39) |
C67F |
possibly damaging |
Het |
| Hspa12b |
T |
A |
2: 130,976,040 (GRCm39) |
I14N |
probably damaging |
Het |
| Ighe |
C |
A |
12: 113,235,135 (GRCm39) |
V342L |
unknown |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,076 (GRCm39) |
S21T |
possibly damaging |
Het |
| Klhl17 |
A |
G |
4: 156,318,319 (GRCm39) |
I101T |
possibly damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,900,573 (GRCm39) |
L293V |
possibly damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,276,865 (GRCm39) |
K44M |
probably damaging |
Het |
| Med15 |
G |
T |
16: 17,498,590 (GRCm39) |
P101T |
probably damaging |
Het |
| Mgat4c |
A |
T |
10: 102,224,581 (GRCm39) |
H265L |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,465 (GRCm39) |
I250N |
possibly damaging |
Het |
| Mxra8 |
C |
A |
4: 155,927,020 (GRCm39) |
T318N |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,757,203 (GRCm39) |
V147I |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,962,341 (GRCm39) |
V336L |
probably damaging |
Het |
| Or1e23 |
G |
A |
11: 73,407,236 (GRCm39) |
S263L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,116,089 (GRCm39) |
I169T |
possibly damaging |
Het |
| Pgap6 |
T |
C |
17: 26,336,493 (GRCm39) |
S204P |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,419,415 (GRCm39) |
H2960L |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,329,852 (GRCm39) |
R135G |
probably benign |
Het |
| Prdm8 |
T |
G |
5: 98,331,202 (GRCm39) |
V18G |
probably damaging |
Het |
| Rhox7b |
G |
T |
X: 36,978,539 (GRCm39) |
P231T |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,714,322 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,262,881 (GRCm39) |
L791Q |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,080,637 (GRCm39) |
D931G |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,399,807 (GRCm39) |
Y382C |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,346 (GRCm39) |
F307L |
probably benign |
Het |
| Zfhx2 |
C |
A |
14: 55,300,714 (GRCm39) |
A2346S |
probably benign |
Het |
|
| Other mutations in Skap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2011-12-09 |
Incidental Mutation