Incidental Mutation 'IGL01543:Skap2'
| ID |
90229 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Skap2
|
| Ensembl Gene |
ENSMUSG00000059182 |
| Gene Name |
src family associated phosphoprotein 2 |
| Synonyms |
2610021A10Rik, Saps, RA70, SKAP-HOM, mSKAP55R |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
51836145-51989529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51989375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 3
(N3Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078214]
[ENSMUST00000204778]
|
| AlphaFold |
Q3UND0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078214
AA Change: N3Y
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: N3Y
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
117 |
221 |
6.11e-18 |
SMART |
|
low complexity region
|
254 |
269 |
N/A |
INTRINSIC |
|
SH3
|
299 |
356 |
1.71e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203453
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204778
AA Change: N3Y
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: N3Y
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
117 |
221 |
6.11e-18 |
SMART |
|
low complexity region
|
254 |
269 |
N/A |
INTRINSIC |
|
SH3
|
299 |
356 |
1.71e-15 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele are embryonic lethal. Homozygotes for a gene-trapped allele show impaired B-cell responses and B-cell adhesion, decreased susceptibility to EAE, abnormal dendritic cell physiology, fast extinction of fear memory, and impaired social memory. [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 |
|---|
| Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
| Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
| Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
| Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
| Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
| Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
| Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
| Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
| Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
| Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
| Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
Het |
|
| Other mutations in Skap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Skap2
|
APN |
6 |
51,898,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01526:Skap2
|
APN |
6 |
51,884,894 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01879:Skap2
|
APN |
6 |
51,973,014 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01893:Skap2
|
APN |
6 |
51,851,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02154:Skap2
|
APN |
6 |
51,989,308 (GRCm39) |
splice site |
probably benign |
|
|
IGL02406:Skap2
|
APN |
6 |
51,851,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02409:Skap2
|
APN |
6 |
51,884,938 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02937:Skap2
|
APN |
6 |
51,886,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0648:Skap2
|
UTSW |
6 |
51,856,765 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1465:Skap2
|
UTSW |
6 |
51,886,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Skap2
|
UTSW |
6 |
51,886,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2370:Skap2
|
UTSW |
6 |
51,898,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Skap2
|
UTSW |
6 |
51,886,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4847:Skap2
|
UTSW |
6 |
51,980,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4939:Skap2
|
UTSW |
6 |
51,899,303 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5555:Skap2
|
UTSW |
6 |
51,836,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7703:Skap2
|
UTSW |
6 |
51,884,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8176:Skap2
|
UTSW |
6 |
51,884,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Skap2
|
UTSW |
6 |
51,884,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9072:Skap2
|
UTSW |
6 |
51,856,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9073:Skap2
|
UTSW |
6 |
51,856,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9143:Skap2
|
UTSW |
6 |
51,885,409 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Skap2
|
UTSW |
6 |
51,898,260 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation