Incidental Mutation 'R5869:Aspscr1'
| ID |
454345 |
| 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 |
044077-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5869 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120563799-120600273 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120579746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 31
(I31T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026135]
[ENSMUST00000103016]
[ENSMUST00000106158]
[ENSMUST00000106159]
[ENSMUST00000106160]
[ENSMUST00000131727]
[ENSMUST00000135346]
[ENSMUST00000168510]
[ENSMUST00000149389]
[ENSMUST00000151160]
[ENSMUST00000143844]
[ENSMUST00000168714]
[ENSMUST00000153346]
[ENSMUST00000168097]
|
| AlphaFold |
Q8VBT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026135
AA Change: I172T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: I172T
| 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: I95T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: I95T
| 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: I95T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: I95T
| 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: I95T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: I95T
| 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: I95T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: I95T
| 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: ENSMUST00000131727
AA Change: I95T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: I95T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135346
AA Change: I95T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: I95T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168510
AA Change: I31T
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142
AA Change: I31T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149389
AA Change: I157T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: I157T
| 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: ENSMUST00000151160
AA Change: I95T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: I95T
| 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: ENSMUST00000163273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167678
|
| SMART Domains |
Protein: ENSMUSP00000128940
Gene: ENSMUSG00000025142
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
63 |
N/A |
INTRINSIC |
|
Blast:UBX
|
77 |
107 |
8e-13 |
BLAST |
|
SCOP:d1i42a_
|
80 |
107 |
5e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143844
|
| 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: ENSMUST00000153346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166838
|
| SMART Domains |
Protein: ENSMUSP00000127202
Gene: ENSMUSG00000025142
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
75 |
N/A |
INTRINSIC |
|
Blast:UBX
|
89 |
119 |
7e-13 |
BLAST |
|
SCOP:d1i42a_
|
92 |
119 |
4e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
93% (68/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,450 (GRCm39) |
|
probably benign |
Het |
| Arsk |
T |
C |
13: 76,239,903 (GRCm39) |
E100G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Asz1 |
T |
C |
6: 18,074,939 (GRCm39) |
|
probably benign |
Het |
| Calm5 |
T |
A |
13: 3,904,321 (GRCm39) |
|
probably benign |
Het |
| Car5a |
G |
A |
8: 122,643,119 (GRCm39) |
T295I |
probably benign |
Het |
| Ccdc174 |
T |
A |
6: 91,862,399 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,225 (GRCm39) |
A529V |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 67,948,935 (GRCm39) |
D252G |
probably benign |
Het |
| Clcnka |
A |
G |
4: 141,122,276 (GRCm39) |
F217L |
probably benign |
Het |
| Cnot3 |
A |
T |
7: 3,647,929 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,988,907 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,489,585 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
C |
T |
13: 25,291,713 (GRCm39) |
P233S |
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,706,745 (GRCm39) |
T581A |
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,728,849 (GRCm39) |
S638P |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,068,511 (GRCm39) |
E616G |
possibly damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,161 (GRCm39) |
S374G |
unknown |
Het |
| Gm4799 |
A |
T |
10: 82,790,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
C |
5: 121,481,288 (GRCm39) |
|
probably null |
Het |
| Ighv1-76 |
T |
C |
12: 115,811,658 (GRCm39) |
E65G |
probably damaging |
Het |
| Igsf9b |
C |
A |
9: 27,234,531 (GRCm39) |
H465Q |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,492,957 (GRCm39) |
D284G |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,450,490 (GRCm39) |
S1940P |
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 167,029,991 (GRCm39) |
S185P |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,566 (GRCm39) |
F199L |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,271 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,894,615 (GRCm39) |
D2204E |
probably damaging |
Het |
| Mier3 |
T |
A |
13: 111,851,384 (GRCm39) |
N427K |
probably damaging |
Het |
| Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
| Mroh3 |
T |
A |
1: 136,113,861 (GRCm39) |
M643L |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,048,664 (GRCm39) |
S548P |
probably damaging |
Het |
| Nat8f6 |
A |
C |
6: 85,785,505 (GRCm39) |
L215V |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,438,960 (GRCm39) |
R179Q |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,820,048 (GRCm39) |
D306E |
probably benign |
Het |
| Pick1 |
A |
G |
15: 79,133,095 (GRCm39) |
D385G |
probably benign |
Het |
| Pitx3 |
A |
T |
19: 46,125,735 (GRCm39) |
|
probably benign |
Het |
| Plpp3 |
T |
A |
4: 105,052,159 (GRCm39) |
|
probably null |
Het |
| Prlhr |
C |
A |
19: 60,456,059 (GRCm39) |
R169L |
probably damaging |
Het |
| Ptprf |
A |
C |
4: 118,067,579 (GRCm39) |
M1872R |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,604,939 (GRCm39) |
D35G |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,976,642 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
A |
C |
14: 56,743,445 (GRCm39) |
E1337A |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,742,708 (GRCm39) |
Y734H |
probably damaging |
Het |
| Slc25a10 |
C |
T |
11: 120,388,943 (GRCm39) |
T269I |
probably damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,526,379 (GRCm39) |
V855G |
probably benign |
Het |
| Slc5a5 |
C |
A |
8: 71,344,974 (GRCm39) |
R111L |
probably damaging |
Het |
| Spart |
A |
T |
3: 55,042,931 (GRCm39) |
M616L |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,954,686 (GRCm39) |
D356G |
probably damaging |
Het |
| Tmem30c |
A |
G |
16: 57,086,925 (GRCm39) |
S293P |
probably damaging |
Het |
| Tnfrsf14 |
C |
A |
4: 155,011,055 (GRCm39) |
|
probably null |
Het |
| Tnfrsf19 |
C |
T |
14: 61,208,627 (GRCm39) |
R298H |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,787,858 (GRCm39) |
K809E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,580,553 (GRCm39) |
P23447S |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,978,707 (GRCm39) |
|
probably null |
Het |
| Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,413,967 (GRCm39) |
I34T |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,069 (GRCm39) |
H99Q |
probably damaging |
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 |
|
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 |
|
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 |
|
|
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| Predicted Primers |
PCR Primer
(F):5'- ACCCTAGAACGTCAGAGACTG -3'
(R):5'- TGTTTGCATCACCCTCATGG -3'
Sequencing Primer
(F):5'- CTGAGGTGGGAGAGCCTG -3'
(R):5'- GGTTTAGGTCTCCCCTGCTGAAC -3'
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| Posted On |
2017-02-10 |
Incidental Mutation