Mutagenetix > Incidental Mutation

Incidental Mutation 'R1958:Aspscr1'

218060

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

039972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1958 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

120563799-120600273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120580034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 191 (G191V)

Ref Sequence

ENSEMBL: ENSMUSP00000116447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000103016] [ENSMUST00000106158] [ENSMUST00000106159] [ENSMUST00000106160] [ENSMUST00000131727] [ENSMUST00000135346] [ENSMUST00000151160] [ENSMUST00000149389] [ENSMUST00000168510] [ENSMUST00000168714] [ENSMUST00000168097] [ENSMUST00000153346] [ENSMUST00000143844]

AlphaFold

Q8VBT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026135
AA Change: G268V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: G268V

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 damaging
Transcript: ENSMUST00000103016
AA Change: G191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: G191V

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 damaging
Transcript: ENSMUST00000106158
AA Change: G191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: G191V

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 damaging
Transcript: ENSMUST00000106159
AA Change: G191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: G191V

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 damaging
Transcript: ENSMUST00000106160
AA Change: G191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: G191V

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 null
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 null
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 null
Transcript: ENSMUST00000151160
AA Change: G191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: G191V

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 null
Transcript: ENSMUST00000149389

SMART Domains

Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142

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 null
Transcript: ENSMUST00000168510

SMART Domains

Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC

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

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: 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: ENSMUST00000168097

Predicted Effect

probably benign
Transcript: ENSMUST00000153346

Predicted Effect

probably benign
Transcript: ENSMUST00000143844

Meta Mutation Damage Score

0.1755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (99/102)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,457,146 (GRCm39)	N155I	probably benign	Het
Abca14	A	G	7: 119,924,382 (GRCm39)	Y1678C	probably damaging	Het
Adamts19	A	T	18: 59,103,078 (GRCm39)	R706S	probably benign	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Adss2	A	G	1: 177,597,544 (GRCm39)	I372T	probably damaging	Het
Arhgap15	T	A	2: 44,133,136 (GRCm39)	D347E	possibly damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Asb8	T	C	15: 98,034,097 (GRCm39)	T153A	possibly damaging	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Atp13a5	A	G	16: 29,133,419 (GRCm39)	Y411H	probably damaging	Het
Cadm1	T	G	9: 47,761,633 (GRCm39)	I411S	probably damaging	Het
Cdh23	T	A	10: 60,246,652 (GRCm39)	M927L	probably benign	Het
Cdk15	A	T	1: 59,383,475 (GRCm39)	R423W	probably damaging	Het
Cep250	T	A	2: 155,818,301 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Cfap54	T	C	10: 92,833,204 (GRCm39)	S1141G	probably benign	Het
Clnk	T	C	5: 38,863,969 (GRCm39)	Y428C	possibly damaging	Het
Cnksr1	A	G	4: 133,955,727 (GRCm39)	S668P	probably benign	Het
Cpxm2	A	T	7: 131,663,876 (GRCm39)	I349N	probably damaging	Het
Csmd3	A	G	15: 47,868,035 (GRCm39)		probably null	Het
Cstdc3	T	C	16: 36,132,927 (GRCm39)	L68P	possibly damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dph2	A	T	4: 117,749,041 (GRCm39)	F5I	probably damaging	Het
Dst	T	A	1: 34,202,802 (GRCm39)	F325L	probably damaging	Het
Edem3	T	C	1: 151,680,076 (GRCm39)	L474S	probably damaging	Het
Emilin1	T	A	5: 31,075,160 (GRCm39)	L467Q	probably benign	Het
Fam170a	G	A	18: 50,415,181 (GRCm39)	E276K	probably benign	Het
Farp1	A	T	14: 121,456,787 (GRCm39)		probably null	Het
Fbrs	A	T	7: 127,085,163 (GRCm39)	T584S	possibly damaging	Het
Fbxo22	T	A	9: 55,116,626 (GRCm39)		probably null	Het
Fhod3	T	G	18: 25,223,522 (GRCm39)	L956R	probably damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm11444	A	T	11: 85,738,999 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,011,497 (GRCm39)	I316M	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Hdhd2	A	G	18: 77,052,841 (GRCm39)	T164A	probably benign	Het
Hoxb9	T	A	11: 96,162,880 (GRCm39)	D171E	possibly damaging	Het
Hpx	A	G	7: 105,245,603 (GRCm39)	Y118H	probably damaging	Het
Iqsec1	T	C	6: 90,647,441 (GRCm39)	K858E	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lama2	C	A	10: 26,857,594 (GRCm39)	R3085L	probably damaging	Het
Lyst	C	A	13: 13,791,203 (GRCm39)	A22E	probably damaging	Het
Man2a1	T	C	17: 65,057,830 (GRCm39)	F1079L	probably benign	Het
Marco	C	T	1: 120,412,593 (GRCm39)	G303R	probably damaging	Het
Marveld2	A	C	13: 100,733,858 (GRCm39)	I536R	probably damaging	Het
Mcm5	A	G	8: 75,848,257 (GRCm39)	D502G	probably benign	Het
Mdga1	A	T	17: 30,059,862 (GRCm39)	L653Q	probably damaging	Het
Mical2	A	G	7: 111,980,311 (GRCm39)	D161G	probably benign	Het
Mroh2a	C	T	1: 88,165,213 (GRCm39)	R445*	probably null	Het
Mrpl46	A	T	7: 78,431,146 (GRCm39)		probably null	Het
Nckipsd	C	A	9: 108,691,863 (GRCm39)		probably null	Het
Nek11	T	C	9: 105,170,916 (GRCm39)	D373G	probably benign	Het
Nle1	G	A	11: 82,795,068 (GRCm39)	S321F	probably benign	Het
Noxa1	A	G	2: 24,980,620 (GRCm39)	S130P	probably damaging	Het
Or10a5	A	G	7: 106,635,478 (GRCm39)	T39A	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5l13	A	T	2: 87,779,809 (GRCm39)	L256H	probably damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Parp3	T	G	9: 106,352,021 (GRCm39)		probably null	Het
Pask	A	T	1: 93,249,180 (GRCm39)	I740N	probably benign	Het
Pelp1	A	G	11: 70,289,347 (GRCm39)	F221S	probably damaging	Het
Pkd1l1	T	G	11: 8,824,161 (GRCm39)	K1135Q	probably benign	Het
Plcl2	A	T	17: 50,915,109 (GRCm39)	Q706L	probably damaging	Het
Psg26	T	C	7: 18,212,264 (GRCm39)	T364A	probably benign	Het
Ptprb	C	T	10: 116,177,441 (GRCm39)	T1047M	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab37	C	T	11: 115,051,177 (GRCm39)	A155V	probably damaging	Het
Rbbp6	A	C	7: 122,601,168 (GRCm39)		probably benign	Het
Rbmxl2	A	G	7: 106,809,405 (GRCm39)	D230G	probably benign	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,115 (GRCm39)		probably benign	Het
Sass6	G	T	3: 116,403,945 (GRCm39)	K194N	possibly damaging	Het
Sgpp1	T	G	12: 75,782,222 (GRCm39)	D39A	probably benign	Het
Shank3	T	C	15: 89,387,351 (GRCm39)	V198A	probably damaging	Het
Sin3a	T	A	9: 57,012,893 (GRCm39)	S591T	probably damaging	Het
Slc12a6	C	T	2: 112,185,503 (GRCm39)	T924I	possibly damaging	Het
Sln	T	A	9: 53,760,785 (GRCm39)	I10N	probably benign	Het
St3gal3	A	T	4: 117,797,268 (GRCm39)	M309K	probably damaging	Het
Syne2	T	A	12: 76,016,319 (GRCm39)	D3301E	probably benign	Het
Tgtp2	A	G	11: 48,949,919 (GRCm39)	S218P	probably damaging	Het
Tha1	C	T	11: 117,760,179 (GRCm39)		probably benign	Het
Tmem102	A	G	11: 69,695,225 (GRCm39)	V249A	probably benign	Het
Top3b	G	A	16: 16,702,166 (GRCm39)	E268K	possibly damaging	Het
Trip4	T	C	9: 65,746,307 (GRCm39)	S530G	possibly damaging	Het
Tut1	T	A	19: 8,936,677 (GRCm39)	V167E	probably damaging	Het
Tut4	A	T	4: 108,412,903 (GRCm39)	S1535C	probably damaging	Het
Ube2u	A	T	4: 100,338,833 (GRCm39)	M33L	probably benign	Het
Unc79	T	C	12: 102,957,621 (GRCm39)	I12T	probably damaging	Het
Unc79	A	T	12: 103,041,178 (GRCm39)	D737V	probably benign	Het
Vmn1r26	A	G	6: 57,985,286 (GRCm39)	V301A	probably benign	Het
Vmn1r86	A	G	7: 12,836,621 (GRCm39)	V35A	possibly damaging	Het
Vmn2r98	A	C	17: 19,286,680 (GRCm39)	N393H	possibly damaging	Het
Vps13b	T	G	15: 35,878,835 (GRCm39)	S2945A	probably damaging	Het
Whrn	C	T	4: 63,353,666 (GRCm39)	R367H	possibly damaging	Het
Zfp235	A	T	7: 23,839,771 (GRCm39)	L133F	probably damaging	Het
Zfp74	T	C	7: 29,635,136 (GRCm39)	T191A	probably benign	Het
Zfp943	A	T	17: 22,211,979 (GRCm39)	K355I	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zscan29	A	T	2: 121,000,289 (GRCm39)		probably null	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
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'- TGCTTCCTCTGAACTCTGGG -3'
(R):5'- CAGAACAAGTCTTTCCCAGGAGG -3'

Sequencing Primer
(F):5'- CTCTGGGGAGTTCAGCAGG -3'
(R):5'- CGTGGACAAGCACTGCCATAG -3'

Posted On

2014-08-01