Incidental Mutation 'R0457:Aspscr1'
| ID |
41238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aspscr1
|
| Ensembl Gene |
ENSMUSG00000025142 |
| Gene Name |
ASPSCR1 tether for SLC2A4, UBX domain containing |
| Synonyms |
ASPL, 1190006K01Rik, RCC17, ASPC, ASPCR1, TUG |
| MMRRC Submission |
038657-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0457 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120563799-120600273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120568444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 12
(E12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026135]
[ENSMUST00000103016]
[ENSMUST00000106158]
[ENSMUST00000106159]
[ENSMUST00000106160]
[ENSMUST00000127269]
[ENSMUST00000129644]
[ENSMUST00000168097]
[ENSMUST00000149389]
[ENSMUST00000131727]
[ENSMUST00000153346]
[ENSMUST00000135346]
[ENSMUST00000168714]
[ENSMUST00000143844]
[ENSMUST00000151160]
|
| AlphaFold |
Q8VBT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026135
AA Change: E89G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: E89G
| 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
AA Change: E12G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: E12G
| 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
AA Change: E12G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: E12G
| 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
AA Change: E12G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: E12G
| 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
AA Change: E12G
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: E12G
| 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
AA Change: E12G
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129644
AA Change: E12G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168097
AA Change: E12G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149389
AA Change: E74G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: E74G
| 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 |
probably benign
Transcript: ENSMUST00000131727
AA Change: E12G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153346
AA Change: E12G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135346
AA Change: E12G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168714
AA Change: E12G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1h8ca_
|
12 |
82 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143844
AA Change: E12G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151160
AA Change: E12G
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: E12G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169964
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,844,054 (GRCm39) |
I249M |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,094,915 (GRCm39) |
S691P |
probably benign |
Het |
| Ajm1 |
G |
T |
2: 25,468,358 (GRCm39) |
R518S |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,607,777 (GRCm39) |
Q244R |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,959,023 (GRCm39) |
M3818V |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,969,620 (GRCm39) |
A4230V |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,440,340 (GRCm39) |
F148S |
probably damaging |
Het |
| C1ra |
T |
C |
6: 124,499,712 (GRCm39) |
S633P |
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,472,414 (GRCm39) |
T274A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,095 (GRCm39) |
W998R |
possibly damaging |
Het |
| Crbn |
T |
C |
6: 106,758,018 (GRCm39) |
K404R |
probably benign |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,551,407 (GRCm39) |
|
probably null |
Het |
| Defa-ps1 |
A |
T |
8: 22,185,758 (GRCm39) |
|
noncoding transcript |
Het |
| Dnajc10 |
T |
A |
2: 80,175,290 (GRCm39) |
V559D |
possibly damaging |
Het |
| Dock1 |
A |
T |
7: 134,739,874 (GRCm39) |
E1423D |
possibly damaging |
Het |
| Dpf3 |
A |
T |
12: 83,319,179 (GRCm39) |
S44T |
probably damaging |
Het |
| Dyrk3 |
A |
T |
1: 131,064,094 (GRCm39) |
V31D |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,021,769 (GRCm39) |
S1415P |
probably benign |
Het |
| Fam186b |
A |
C |
15: 99,169,166 (GRCm39) |
I927S |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fer1l6 |
G |
A |
15: 58,509,943 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
G |
T |
3: 108,783,861 (GRCm39) |
S249R |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,884,614 (GRCm39) |
E139G |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gm17324 |
T |
A |
9: 78,355,580 (GRCm39) |
M1K |
probably null |
Het |
| Gtpbp6 |
T |
A |
5: 110,254,608 (GRCm39) |
R126S |
probably damaging |
Het |
| Hapln4 |
G |
A |
8: 70,541,122 (GRCm39) |
W385* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,305,296 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
A |
G |
17: 45,879,914 (GRCm39) |
V534A |
probably damaging |
Het |
| Kat6b |
C |
A |
14: 21,720,598 (GRCm39) |
T1650K |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,823,275 (GRCm39) |
D42E |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,509,279 (GRCm39) |
M376T |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,760,201 (GRCm39) |
|
probably null |
Het |
| Ltv1 |
T |
C |
10: 13,067,887 (GRCm39) |
T34A |
probably benign |
Het |
| Mga |
T |
A |
2: 119,746,969 (GRCm39) |
N373K |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,357,505 (GRCm39) |
M101K |
probably damaging |
Het |
| Mthfd2l |
T |
C |
5: 91,168,065 (GRCm39) |
M320T |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,838,514 (GRCm39) |
E506K |
probably benign |
Het |
| Ngb |
T |
C |
12: 87,147,503 (GRCm39) |
D54G |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,699,014 (GRCm39) |
F84L |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,545 (GRCm39) |
I71F |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,566,180 (GRCm39) |
T108S |
probably benign |
Het |
| Phf12 |
T |
A |
11: 77,908,994 (GRCm39) |
I358N |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,061,801 (GRCm39) |
F2577S |
probably damaging |
Het |
| Polr1c |
T |
A |
17: 46,558,689 (GRCm39) |
Y36F |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,413,155 (GRCm39) |
M672K |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,785,539 (GRCm39) |
Y905C |
probably damaging |
Het |
| Ptpn23 |
T |
A |
9: 110,215,361 (GRCm39) |
H1433L |
possibly damaging |
Het |
| Rnf11 |
A |
T |
4: 109,314,149 (GRCm39) |
L80Q |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,403,437 (GRCm39) |
C90S |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,668,471 (GRCm39) |
L710P |
probably damaging |
Het |
| Spire1 |
T |
A |
18: 67,685,670 (GRCm39) |
I35F |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,795,966 (GRCm39) |
V1715A |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,819,281 (GRCm39) |
F62L |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,118,136 (GRCm39) |
G862D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,972,041 (GRCm39) |
M8789K |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,421 (GRCm39) |
L965P |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,284,167 (GRCm39) |
M772K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,608,851 (GRCm39) |
K15976* |
probably null |
Het |
| Unc13a |
A |
C |
8: 72,110,645 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
C |
13: 89,851,318 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Vmn1r29 |
T |
C |
6: 58,285,072 (GRCm39) |
V264A |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,548,118 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,079,459 (GRCm39) |
R225H |
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,946,293 (GRCm39) |
T620I |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,968 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,902 (GRCm39) |
C387* |
probably null |
Het |
| Zfp521 |
T |
C |
18: 13,977,897 (GRCm39) |
T839A |
probably benign |
Het |
|
| Other mutations in Aspscr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02588:Aspscr1
|
APN |
11 |
120,568,357 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGCCCTGTGCCTATCTAAAG -3'
(R):5'- AGGACTAGCTTCAACCTCTCCAGC -3'
Sequencing Primer
(F):5'- ATCTAAAGCTCCTGTTAGTCCAG -3'
(R):5'- CAGCCCTTCTCAGGCCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation