Incidental Mutation 'R4703:Aspscr1'
ID 356235
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 041951-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4703 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120563799-120600273 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120579771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 39 (K39N)
Ref Sequence ENSEMBL: ENSMUSP00000125931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000103016] [ENSMUST00000106158] [ENSMUST00000106159] [ENSMUST00000106160] [ENSMUST00000131727] [ENSMUST00000168510] [ENSMUST00000135346] [ENSMUST00000149389] [ENSMUST00000151160] [ENSMUST00000143844] [ENSMUST00000153346] [ENSMUST00000168097] [ENSMUST00000168714]
AlphaFold Q8VBT9
Predicted Effect possibly damaging
Transcript: ENSMUST00000026135
AA Change: K180N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: K180N

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000103016
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
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: K103N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000106159
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
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: K103N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000131727
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
low complexity region 116 129 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168510
AA Change: K39N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142
AA Change: K39N

DomainStartEndE-ValueType
low complexity region 52 65 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135346
AA Change: K103N

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
low complexity region 116 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149389
AA Change: K165N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: K165N

DomainStartEndE-ValueType
Pfam:TUG-UBL1 3 63 3.7e-24 PFAM
low complexity region 178 191 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000151160
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: K103N

DomainStartEndE-ValueType
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: ENSMUST00000166838
SMART Domains Protein: ENSMUSP00000127202
Gene: ENSMUSG00000025142

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000143844
Predicted Effect probably benign
Transcript: ENSMUST00000153346
Predicted Effect probably benign
Transcript: ENSMUST00000167678
SMART Domains Protein: ENSMUSP00000128940
Gene: ENSMUSG00000025142

DomainStartEndE-ValueType
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: ENSMUST00000168097
Predicted Effect probably benign
Transcript: ENSMUST00000168714
SMART Domains Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142

DomainStartEndE-ValueType
SCOP:d1h8ca_ 12 82 2e-4 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (98/101)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T A 13: 59,837,342 (GRCm39) T248S possibly damaging Het
AA986860 T C 1: 130,671,092 (GRCm39) V438A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Aox1 T A 1: 58,398,116 (GRCm39) F1286I possibly damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgap5 C T 12: 52,564,366 (GRCm39) P446S probably damaging Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Armc12 A G 17: 28,751,336 (GRCm39) D110G probably benign Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
B4galt1 A G 4: 40,823,569 (GRCm39) V174A probably benign Het
Bcl11a C A 11: 24,113,725 (GRCm39) A356E possibly damaging Het
Bri3bp C T 5: 125,528,830 (GRCm39) L110F probably damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Ccdc33 T A 9: 57,940,953 (GRCm39) I430F possibly damaging Het
Cgn A G 3: 94,683,405 (GRCm39) probably benign Het
Crbn T A 6: 106,759,883 (GRCm39) I317F possibly damaging Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Dnah7a C T 1: 53,486,476 (GRCm39) probably null Het
Dnajc12 A G 10: 63,222,429 (GRCm39) probably null Het
Dntt T A 19: 41,028,242 (GRCm39) D179E probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epn1 T A 7: 5,098,147 (GRCm39) D319E probably damaging Het
Evpl C G 11: 116,113,331 (GRCm39) R1453P probably damaging Het
Focad T A 4: 88,260,558 (GRCm39) probably null Het
Foxp2 A T 6: 15,411,247 (GRCm39) M542L probably benign Het
Gak T A 5: 108,717,743 (GRCm39) Q1299L probably damaging Het
Galnt5 G T 2: 57,888,919 (GRCm39) R173I possibly damaging Het
Gli1 G T 10: 127,166,724 (GRCm39) P843Q possibly damaging Het
Gm5422 G T 10: 31,125,608 (GRCm39) noncoding transcript Het
Gna14 T G 19: 16,576,344 (GRCm39) V117G possibly damaging Het
Gpr6 T C 10: 40,947,037 (GRCm39) T182A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ifih1 A T 2: 62,429,220 (GRCm39) L906H probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Ighd A G 12: 113,379,661 (GRCm39) probably benign Het
Ighv11-1 A C 12: 113,945,622 (GRCm39) I77R possibly damaging Het
Il22 A T 10: 118,041,511 (GRCm39) I75F probably damaging Het
Il23r A T 6: 67,467,686 (GRCm39) I27K probably damaging Het
Inpp5a A C 7: 139,138,839 (GRCm39) N261T probably damaging Het
Ints8 T G 4: 11,223,785 (GRCm39) Q686P possibly damaging Het
Iqcf4 T C 9: 106,445,519 (GRCm39) probably null Het
Irf2bp1 C T 7: 18,739,496 (GRCm39) R379C possibly damaging Het
Iws1 C T 18: 32,213,066 (GRCm39) P165S probably benign Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kcna10 A T 3: 107,101,926 (GRCm39) I186F probably benign Het
Limk2 C A 11: 3,297,586 (GRCm39) E329* probably null Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Notch1 T G 2: 26,361,170 (GRCm39) K1107Q probably benign Het
Nsd1 T A 13: 55,361,876 (GRCm39) D281E probably damaging Het
Obi1 A G 14: 104,743,644 (GRCm39) L145P probably benign Het
Olfml2a T A 2: 38,841,250 (GRCm39) L262Q probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or4k44 T A 2: 111,368,113 (GRCm39) I174L probably benign Het
Or51d1 A T 7: 102,347,477 (GRCm39) T11S probably benign Het
Or6k6 A G 1: 173,944,964 (GRCm39) I206T possibly damaging Het
Or7c19 A G 8: 85,957,237 (GRCm39) T38A possibly damaging Het
Otogl A C 10: 107,657,785 (GRCm39) D1048E probably damaging Het
Oxnad1 T C 14: 31,817,427 (GRCm39) W96R probably damaging Het
Pcdh15 A T 10: 74,285,995 (GRCm39) D743V probably damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcnx1 C T 12: 81,941,938 (GRCm39) T112I probably benign Het
Pctp T C 11: 89,878,099 (GRCm39) E145G possibly damaging Het
Pip5k1b T C 19: 24,332,517 (GRCm39) K389R probably damaging Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Pnlip T A 19: 58,664,899 (GRCm39) D242E probably damaging Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Rims3 A T 4: 120,740,494 (GRCm39) probably benign Het
Scfd2 T A 5: 74,680,256 (GRCm39) Q299L probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc15a5 T C 6: 138,032,643 (GRCm39) D237G probably benign Het
Slc16a12 T A 19: 34,652,291 (GRCm39) H285L possibly damaging Het
Sox2 C A 3: 34,704,862 (GRCm39) R100S probably damaging Het
Sspo G A 6: 48,477,387 (GRCm39) C4969Y probably damaging Het
Stxbp2 A G 8: 3,682,521 (GRCm39) S37G probably damaging Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tcf4 A G 18: 69,790,981 (GRCm39) Y307C probably damaging Het
Thsd7b A T 1: 129,977,646 (GRCm39) probably benign Het
Tnn G T 1: 159,943,815 (GRCm39) D999E possibly damaging Het
Trmt13 C A 3: 116,388,247 (GRCm39) W63L probably benign Het
Tsc2 T C 17: 24,823,883 (GRCm39) N915S probably benign Het
Tyrp1 T A 4: 80,759,043 (GRCm39) probably null Het
Uvrag A T 7: 98,638,794 (GRCm39) I315N probably damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn2r59 T A 7: 41,661,686 (GRCm39) I710L probably benign Het
Vmn2r82 A T 10: 79,214,641 (GRCm39) H208L probably damaging Het
Wtap T C 17: 13,199,711 (GRCm39) T91A probably benign Het
Xirp1 A T 9: 119,846,093 (GRCm39) V930E probably damaging Het
Xpo4 T G 14: 57,827,565 (GRCm39) H877P probably benign Het
Other mutations in Aspscr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTGCCTTCAAGGACTACTCC -3'
(R):5'- GTTAGAGGTCTCAAGGACGC -3'

Sequencing Primer
(F):5'- AGGACTACTCCTTCCAGCC -3'
(R):5'- CAGGCTCACTGGTGCTTTGC -3'
Posted On 2015-10-21