Incidental Mutation 'IGL01526:Skap2'
| ID |
89568 |
| 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 # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
51836145-51989529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51884894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 249
(D249N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078214]
[ENSMUST00000203948]
[ENSMUST00000204778]
|
| AlphaFold |
Q3UND0 |
| PDB Structure |
Crystal Structure of a N-terminal Fragment of SKAP-Hom Containing Both the Helical Dimerization Domain and the PH Domain [X-RAY DIFFRACTION]
Crystal Structure of the PH Domain of SKAP-Hom with 8 Vector-derived N-terminal Residues [X-RAY DIFFRACTION]
Crystal Structure of the PH Domain of SKAP-Hom [X-RAY DIFFRACTION]
Crystal Structure of A N-terminal Fragment of SKAP-HOM Containing both the Helical Dimerization Domain and the PH Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078214
AA Change: D249N
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077342
Gene: ENSMUSG00000059182
AA Change: D249N
| 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 |
probably benign
Transcript: ENSMUST00000203948
|
| SMART Domains |
Protein: ENSMUSP00000145275
Gene: ENSMUSG00000059182
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
49 |
1e-28 |
BLAST |
|
PDB:1U5F|A
|
1 |
74 |
1e-30 |
PDB |
|
SH3
|
83 |
126 |
3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204778
AA Change: D256N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000145462
Gene: ENSMUSG00000059182
AA Change: D256N
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
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 |
|
IGL01543:Skap2
|
APN |
6 |
51,989,375 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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