Incidental Mutation 'IGL02588:Aspscr1'
ID |
299621 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aspscr1
|
Ensembl Gene |
ENSMUSG00000025142 |
Gene Name |
ASPSCR1 tether for SLC2A4, UBX domain containing |
Synonyms |
ASPL, 1190006K01Rik, RCC17, ASPC, ASPCR1, TUG |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02588
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120563799-120600273 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120568357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 60
(D60G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026135]
[ENSMUST00000103016]
[ENSMUST00000106158]
[ENSMUST00000106159]
[ENSMUST00000106160]
[ENSMUST00000127269]
[ENSMUST00000129644]
[ENSMUST00000149389]
[ENSMUST00000153346]
[ENSMUST00000131727]
[ENSMUST00000168097]
[ENSMUST00000135346]
[ENSMUST00000168714]
[ENSMUST00000151160]
[ENSMUST00000143844]
|
AlphaFold |
Q8VBT9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026135
AA Change: D60G
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026135 Gene: ENSMUSG00000025142 AA Change: D60G
Domain | Start | End | E-Value | Type |
Pfam:TUG-UBL1
|
15 |
78 |
1.4e-29 |
PFAM |
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
low complexity region
|
284 |
313 |
N/A |
INTRINSIC |
coiled coil region
|
339 |
365 |
N/A |
INTRINSIC |
UBX
|
378 |
459 |
1.67e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103016
|
SMART Domains |
Protein: ENSMUSP00000099305 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
coiled coil region
|
262 |
288 |
N/A |
INTRINSIC |
UBX
|
301 |
382 |
1.67e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106158
|
SMART Domains |
Protein: ENSMUSP00000101764 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
coiled coil region
|
262 |
288 |
N/A |
INTRINSIC |
Blast:UBX
|
301 |
361 |
2e-29 |
BLAST |
SCOP:d1h8ca_
|
308 |
364 |
2e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106159
|
SMART Domains |
Protein: ENSMUSP00000101765 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
coiled coil region
|
262 |
288 |
N/A |
INTRINSIC |
UBX
|
301 |
382 |
1.67e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106160
|
SMART Domains |
Protein: ENSMUSP00000101766 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
coiled coil region
|
262 |
288 |
N/A |
INTRINSIC |
Blast:UBX
|
301 |
361 |
2e-29 |
BLAST |
SCOP:d1h8ca_
|
308 |
364 |
2e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127269
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129644
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149389
AA Change: D45G
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122216 Gene: ENSMUSG00000025142 AA Change: D45G
Domain | Start | End | E-Value | Type |
Pfam:TUG-UBL1
|
3 |
63 |
3.7e-24 |
PFAM |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153346
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131727
|
SMART Domains |
Protein: ENSMUSP00000117654 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168097
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135346
|
SMART Domains |
Protein: ENSMUSP00000120072 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168714
|
SMART Domains |
Protein: ENSMUSP00000129462 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
SCOP:d1h8ca_
|
12 |
82 |
2e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151160
|
SMART Domains |
Protein: ENSMUSP00000116447 Gene: ENSMUSG00000025142
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143844
|
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 contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
G |
A |
12: 52,933,282 (GRCm39) |
W258* |
probably null |
Het |
Ankmy2 |
T |
C |
12: 36,226,685 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
G |
T |
18: 38,734,670 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
C |
A |
8: 123,583,291 (GRCm39) |
Y31* |
probably null |
Het |
Cnih3 |
A |
G |
1: 181,237,269 (GRCm39) |
R76G |
probably benign |
Het |
Cplx1 |
C |
A |
5: 108,673,289 (GRCm39) |
R44L |
possibly damaging |
Het |
Dhx57 |
T |
A |
17: 80,576,300 (GRCm39) |
I597F |
probably damaging |
Het |
Dnah17 |
G |
T |
11: 117,916,479 (GRCm39) |
F4231L |
possibly damaging |
Het |
Dst |
T |
G |
1: 34,156,565 (GRCm39) |
L173R |
probably damaging |
Het |
Fezf2 |
A |
T |
14: 12,343,687 (GRCm38) |
Y353N |
probably damaging |
Het |
Ghrhr |
T |
A |
6: 55,360,395 (GRCm39) |
L247Q |
probably damaging |
Het |
Gm10912 |
C |
T |
2: 103,897,197 (GRCm39) |
|
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,376,673 (GRCm39) |
L541H |
probably damaging |
Het |
Gpld1 |
C |
T |
13: 25,127,682 (GRCm39) |
T28I |
probably damaging |
Het |
Lmf2 |
A |
T |
15: 89,239,609 (GRCm39) |
|
probably null |
Het |
Lratd2 |
T |
C |
15: 60,694,999 (GRCm39) |
D249G |
probably damaging |
Het |
Mex3c |
A |
G |
18: 73,723,116 (GRCm39) |
N403S |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,073,105 (GRCm39) |
L246* |
probably null |
Het |
Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
Nlrp4c |
A |
T |
7: 6,087,647 (GRCm39) |
D760V |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,348,843 (GRCm38) |
|
noncoding transcript |
Het |
Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
A |
14: 65,855,226 (GRCm39) |
|
probably benign |
Het |
Or4c122 |
T |
C |
2: 89,080,042 (GRCm39) |
|
probably benign |
Het |
Or52d1 |
C |
T |
7: 103,756,260 (GRCm39) |
T258I |
possibly damaging |
Het |
Papolg |
T |
A |
11: 23,840,252 (GRCm39) |
I75F |
probably damaging |
Het |
Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
Pdp2 |
A |
G |
8: 105,321,536 (GRCm39) |
K462E |
possibly damaging |
Het |
Plod1 |
A |
T |
4: 147,997,747 (GRCm39) |
L654* |
probably null |
Het |
Ppp4r3b |
G |
T |
11: 29,148,853 (GRCm39) |
G25* |
probably null |
Het |
Ptch1 |
T |
C |
13: 63,659,732 (GRCm39) |
D1307G |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,167,361 (GRCm39) |
V1034A |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,813,712 (GRCm39) |
L319Q |
probably damaging |
Het |
Retnlg |
A |
G |
16: 48,693,255 (GRCm39) |
T11A |
probably benign |
Het |
Rfc3 |
A |
T |
5: 151,566,381 (GRCm39) |
F356Y |
possibly damaging |
Het |
Rnf213 |
G |
T |
11: 119,307,362 (GRCm39) |
C674F |
probably benign |
Het |
Shcbp1l |
A |
G |
1: 153,304,411 (GRCm39) |
K157E |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,451 (GRCm39) |
C233R |
probably damaging |
Het |
Slc38a9 |
A |
G |
13: 112,834,511 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
St14 |
C |
A |
9: 31,001,329 (GRCm39) |
|
probably benign |
Het |
Sympk |
G |
A |
7: 18,776,550 (GRCm39) |
V481M |
probably benign |
Het |
Timeless |
T |
A |
10: 128,079,203 (GRCm39) |
L350Q |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,361,542 (GRCm39) |
H106L |
probably benign |
Het |
Zbtb45 |
A |
T |
7: 12,740,204 (GRCm39) |
C470* |
probably null |
Het |
|
Other mutations in Aspscr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02683:Aspscr1
|
APN |
11 |
120,592,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Aspscr1
|
APN |
11 |
120,568,405 (GRCm39) |
missense |
probably damaging |
1.00 |
I1329:Aspscr1
|
UTSW |
11 |
120,592,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R0113:Aspscr1
|
UTSW |
11 |
120,579,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R0277:Aspscr1
|
UTSW |
11 |
120,569,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Aspscr1
|
UTSW |
11 |
120,569,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0457:Aspscr1
|
UTSW |
11 |
120,568,444 (GRCm39) |
missense |
probably benign |
0.35 |
R0714:Aspscr1
|
UTSW |
11 |
120,594,493 (GRCm39) |
critical splice donor site |
probably null |
|
R1435:Aspscr1
|
UTSW |
11 |
120,580,048 (GRCm39) |
missense |
probably benign |
0.00 |
R1509:Aspscr1
|
UTSW |
11 |
120,592,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Aspscr1
|
UTSW |
11 |
120,569,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1789:Aspscr1
|
UTSW |
11 |
120,579,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Aspscr1
|
UTSW |
11 |
120,580,034 (GRCm39) |
missense |
probably null |
1.00 |
R2414:Aspscr1
|
UTSW |
11 |
120,580,048 (GRCm39) |
missense |
probably benign |
0.00 |
R2432:Aspscr1
|
UTSW |
11 |
120,593,392 (GRCm39) |
intron |
probably benign |
|
R4059:Aspscr1
|
UTSW |
11 |
120,577,505 (GRCm39) |
missense |
probably benign |
0.22 |
R4159:Aspscr1
|
UTSW |
11 |
120,599,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Aspscr1
|
UTSW |
11 |
120,579,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4705:Aspscr1
|
UTSW |
11 |
120,579,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4748:Aspscr1
|
UTSW |
11 |
120,592,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R5141:Aspscr1
|
UTSW |
11 |
120,580,003 (GRCm39) |
missense |
probably benign |
0.01 |
R5869:Aspscr1
|
UTSW |
11 |
120,579,746 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7543:Aspscr1
|
UTSW |
11 |
120,600,249 (GRCm39) |
missense |
unknown |
|
R7555:Aspscr1
|
UTSW |
11 |
120,563,926 (GRCm39) |
missense |
unknown |
|
R7609:Aspscr1
|
UTSW |
11 |
120,568,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R7670:Aspscr1
|
UTSW |
11 |
120,579,865 (GRCm39) |
missense |
probably benign |
0.00 |
R7946:Aspscr1
|
UTSW |
11 |
120,599,443 (GRCm39) |
missense |
|
|
R7999:Aspscr1
|
UTSW |
11 |
120,569,348 (GRCm39) |
critical splice donor site |
probably null |
|
R8299:Aspscr1
|
UTSW |
11 |
120,599,900 (GRCm39) |
missense |
|
|
|
Posted On |
2015-04-16 |