Mutagenetix > Incidental Mutation

Incidental Mutation 'R1509:Aspscr1'

168162

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

039556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120563799-120600273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120592342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 294 (A294D)

Ref Sequence

ENSEMBL: ENSMUSP00000101765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000103016] [ENSMUST00000106158] [ENSMUST00000106159] [ENSMUST00000106160] [ENSMUST00000168947] [ENSMUST00000168097] [ENSMUST00000168510] [ENSMUST00000168714]

AlphaFold

Q8VBT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026135
AA Change: A371D

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

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: A371D

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: A294D

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

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: A294D

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: A294D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: A294D

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: A294D

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

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: A294D

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: A294D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: A294D

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

noncoding transcript
Transcript: ENSMUST00000163273

Predicted Effect

unknown
Transcript: ENSMUST00000166838
AA Change: A81D

SMART Domains

Protein: ENSMUSP00000127202
Gene: ENSMUSG00000025142
AA Change: A81D

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

unknown
Transcript: ENSMUST00000167678
AA Change: A69D

SMART Domains

Protein: ENSMUSP00000128940
Gene: ENSMUSG00000025142
AA Change: A69D

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: ENSMUST00000168947

Predicted Effect

probably benign
Transcript: ENSMUST00000168097

Predicted Effect

probably benign
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: ENSMUST00000168714

SMART Domains

Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142

Domain	Start	End	E-Value	Type
SCOP:d1h8ca_	12	82	2e-4	SMART

Meta Mutation Damage Score

0.2055

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,340,766 (GRCm39)	S132P	probably benign	Het
AC153895.1	T	C	6: 50,020,451 (GRCm39)	R54G	unknown	Het
Acot12	G	A	13: 91,919,994 (GRCm39)		probably null	Het
Adhfe1	T	A	1: 9,623,671 (GRCm39)	D98E	probably benign	Het
Ago2	A	G	15: 72,988,213 (GRCm39)	F594S	probably damaging	Het
Aldh18a1	A	G	19: 40,545,927 (GRCm39)	I620T	probably damaging	Het
Bod1l	C	G	5: 41,976,883 (GRCm39)	R1477T	probably damaging	Het
Ccdc18	C	A	5: 108,336,844 (GRCm39)	A741D	possibly damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap52	C	T	11: 67,829,819 (GRCm39)	V317I	probably benign	Het
Cgn	A	T	3: 94,681,568 (GRCm39)	L509Q	probably benign	Het
Crb2	A	G	2: 37,676,631 (GRCm39)	H204R	probably benign	Het
Cspg4b	A	G	13: 113,504,790 (GRCm39)	N431S	probably damaging	Het
Ddx39a	G	A	8: 84,446,527 (GRCm39)	V99M	probably damaging	Het
Dis3l2	T	A	1: 86,948,808 (GRCm39)	C582S	possibly damaging	Het
Dmbt1	G	A	7: 130,676,061 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,004,425 (GRCm39)	E3846G	probably damaging	Het
Dstyk	A	G	1: 132,384,084 (GRCm39)	E655G	probably damaging	Het
Epha4	T	C	1: 77,357,523 (GRCm39)	Y825C	probably damaging	Het
Esp36	T	A	17: 38,728,173 (GRCm39)	N36I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fem1c	A	G	18: 46,657,280 (GRCm39)	S145P	probably benign	Het
Galnt13	T	C	2: 54,623,094 (GRCm39)	I80T	probably damaging	Het
Gm5698	T	C	1: 31,016,728 (GRCm39)	T108A	probably benign	Het
Hipk3	A	G	2: 104,271,607 (GRCm39)	S442P	probably benign	Het
Hmcn2	T	A	2: 31,204,491 (GRCm39)	V22D	possibly damaging	Het
Hspg2	C	T	4: 137,238,552 (GRCm39)		probably benign	Het
Ide	A	G	19: 37,262,603 (GRCm39)		probably null	Het
Ifnar1	C	A	16: 91,300,384 (GRCm39)	P462Q	probably damaging	Het
Itgb2l	T	A	16: 96,228,049 (GRCm39)	I485F	probably benign	Het
Jakmip3	C	T	7: 138,629,505 (GRCm39)	R549W	possibly damaging	Het
Lrrc36	A	G	8: 106,187,761 (GRCm39)	Q680R	probably damaging	Het
Lysmd3	T	G	13: 81,817,390 (GRCm39)	H122Q	probably benign	Het
Macf1	C	A	4: 123,577,802 (GRCm39)	V61L	possibly damaging	Het
Map1b	T	C	13: 99,568,036 (GRCm39)	T1562A	unknown	Het
Map3k20	A	T	2: 72,194,968 (GRCm39)		probably benign	Het
Mroh8	A	G	2: 157,075,125 (GRCm39)	V457A	probably benign	Het
Mrpl40	T	A	16: 18,694,159 (GRCm39)		probably null	Het
Ms4a10	C	T	19: 10,941,472 (GRCm39)	V166I	probably benign	Het
Mycl	A	G	4: 122,894,100 (GRCm39)	D300G	probably damaging	Het
Naca	T	A	10: 127,879,266 (GRCm39)		probably benign	Het
Ncoa4	T	C	14: 31,895,391 (GRCm39)	S172P	probably damaging	Het
Nfatc3	T	C	8: 106,810,486 (GRCm39)	F421L	possibly damaging	Het
Nucb1	C	A	7: 45,144,649 (GRCm39)	K301N	probably benign	Het
Or1af1	A	G	2: 37,109,966 (GRCm39)	H155R	probably damaging	Het
Or52ae9	A	T	7: 103,390,243 (GRCm39)	M68K	probably benign	Het
Or5b99	T	A	19: 12,976,815 (GRCm39)	I155N	possibly damaging	Het
Panx1	A	T	9: 14,921,341 (GRCm39)	V178E	possibly damaging	Het
Pkd1l3	G	A	8: 110,367,402 (GRCm39)	V1210I	probably damaging	Het
Polr2a	A	T	11: 69,638,039 (GRCm39)	H143Q	possibly damaging	Het
Potefam1	A	T	2: 111,048,972 (GRCm39)	M269K	probably benign	Het
Prdm12	G	A	2: 31,544,186 (GRCm39)	R263H	probably damaging	Het
Prkdc	A	C	16: 15,549,430 (GRCm39)	K1998T	probably damaging	Het
Rab11fip1	A	T	8: 27,643,051 (GRCm39)	S583T	probably damaging	Het
Rnf157	T	A	11: 116,237,921 (GRCm39)	T567S	probably benign	Het
Rp1	T	C	1: 4,417,917 (GRCm39)	K1065R	probably damaging	Het
Rp1	A	G	1: 4,418,760 (GRCm39)	I784T	probably benign	Het
Rps10	A	C	17: 27,850,182 (GRCm39)	F150V	probably benign	Het
Rrp12	A	T	19: 41,870,639 (GRCm39)	F499I	probably damaging	Het
Sez6l2	G	A	7: 126,562,535 (GRCm39)	R604H	probably damaging	Het
Slc25a21	G	T	12: 56,904,864 (GRCm39)	Q57K	probably benign	Het
Slc27a2	A	G	2: 126,395,234 (GRCm39)	T54A	possibly damaging	Het
Slc9a9	T	A	9: 95,111,011 (GRCm39)	S610T	probably benign	Het
Smc1b	A	T	15: 84,970,335 (GRCm39)	S973T	probably benign	Het
Smc6	G	A	12: 11,329,734 (GRCm39)	S164N	possibly damaging	Het
Sp1	A	G	15: 102,316,314 (GRCm39)	T32A	possibly damaging	Het
Spen	T	C	4: 141,202,946 (GRCm39)	I1894V	probably benign	Het
Spen	T	C	4: 141,203,011 (GRCm39)	K1872R	possibly damaging	Het
Stab1	C	A	14: 30,873,541 (GRCm39)		probably benign	Het
Taar7d	T	G	10: 23,904,102 (GRCm39)	F328C	probably damaging	Het
Ticam1	A	T	17: 56,578,113 (GRCm39)	S327R	probably benign	Het
Tmem248	C	T	5: 130,258,295 (GRCm39)		probably benign	Het
Tom1	T	C	8: 75,781,259 (GRCm39)	S83P	probably damaging	Het
Txk	T	A	5: 72,856,453 (GRCm39)	Y446F	probably damaging	Het
Ubap1l	T	A	9: 65,279,237 (GRCm39)	C179S	probably benign	Het
Utrn	T	C	10: 12,331,185 (GRCm39)	E474G	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,862 (GRCm39)	M685V	probably benign	Het
Vmn2r7	A	T	3: 64,623,881 (GRCm39)	Y146*	probably null	Het
Wdr1	G	A	5: 38,697,905 (GRCm39)	T220M	probably damaging	Het
Xpo7	T	C	14: 70,915,582 (GRCm39)	D726G	probably damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zeb1os1	A	G	18: 5,583,794 (GRCm39)		noncoding transcript	Het
Zfp462	T	A	4: 55,007,667 (GRCm39)	D35E	probably damaging	Het
Zfp467	A	G	6: 48,415,621 (GRCm39)	S344P	possibly damaging	Het
Zfpm1	A	T	8: 123,034,285 (GRCm39)	D73V	possibly 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
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'- TGCCTGACGAGTTCTTTGAGGTGAC -3'
(R):5'- TTGCCTAGTGCAGCAGACAAAGCC -3'

Sequencing Primer
(F):5'- TTGGCCCAGCTCAAGAGTG -3'
(R):5'- GGCCTACCATGACACCTG -3'

Posted On

2014-04-13