Mutagenetix > Incidental Mutation

Incidental Mutation 'R0323:Aspscr1'

65034

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

038533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0323 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

120563799-120600273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120569246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 15 (V15I)

Ref Sequence

ENSEMBL: ENSMUSP00000130303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000103016] [ENSMUST00000106158] [ENSMUST00000106159] [ENSMUST00000106160] [ENSMUST00000127269] [ENSMUST00000129644] [ENSMUST00000151160] [ENSMUST00000153346] [ENSMUST00000149389] [ENSMUST00000168714] [ENSMUST00000135346] [ENSMUST00000131727] [ENSMUST00000143844] [ENSMUST00000168097]

AlphaFold

Q8VBT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026135
AA Change: V92I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: V92I

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: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: V15I

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: V15I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: V15I

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: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: V15I

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: V15I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: V15I

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: ENSMUST00000127269
AA Change: V15I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000129644
AA Change: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000151160
AA Change: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: V15I

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC
low complexity region	207	220	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153346
AA Change: V15I

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149389
AA Change: V77I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: V77I

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

possibly damaging
Transcript: ENSMUST00000168714
AA Change: V15I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142
AA Change: V15I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135346
AA Change: V15I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: V15I

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131727
AA Change: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: V15I

Domain	Start	End	E-Value	Type
low complexity region	116	129	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143844
AA Change: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000168097
AA Change: V15I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171700

Meta Mutation Damage Score

0.5145

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 94.2%
20x: 86.1%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,446,674 (GRCm39)	T816S	possibly damaging	Het
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
4931429P17Rik	A	C	13: 48,114,493 (GRCm39)		noncoding transcript	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Accsl	T	A	2: 93,691,425 (GRCm39)	Q351L	probably benign	Het
Acot6	A	C	12: 84,155,953 (GRCm39)	E300D	probably benign	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Agps	T	A	2: 75,724,505 (GRCm39)	Y506*	probably null	Het
Appl1	A	T	14: 26,664,695 (GRCm39)	V446D	possibly damaging	Het
Arcn1	A	T	9: 44,670,356 (GRCm39)	I90N	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Barx1	A	G	13: 48,819,430 (GRCm39)	T243A	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Cacul1	A	G	19: 60,531,498 (GRCm39)	I257T	probably benign	Het
Chml	A	T	1: 175,514,650 (GRCm39)	F424I	probably benign	Het
Clcn1	A	T	6: 42,287,074 (GRCm39)	E710D	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dnajc13	A	G	9: 104,034,091 (GRCm39)	S2188P	probably damaging	Het
Dyrk1b	C	A	7: 27,884,781 (GRCm39)	Q399K	probably benign	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgr1	T	C	3: 96,193,145 (GRCm39)	E284G	possibly damaging	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Fsip2	T	C	2: 82,816,240 (GRCm39)	I3991T	probably benign	Het
Galnt15	A	T	14: 31,770,042 (GRCm39)	H249L	probably damaging	Het
Gm10803	T	A	2: 93,394,415 (GRCm39)	Y62*	probably null	Het
Gm20730	G	A	6: 43,058,449 (GRCm39)		probably null	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gmpr2	A	G	14: 55,910,203 (GRCm39)	D11G	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hyal4	A	T	6: 24,756,193 (GRCm39)	N137I	probably benign	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Ldb3	G	A	14: 34,266,002 (GRCm39)	T531I	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Lrp2	T	C	2: 69,299,983 (GRCm39)	Y3023C	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Lrriq1	A	T	10: 103,057,150 (GRCm39)	C217S	possibly damaging	Het
Mmrn2	A	T	14: 34,119,991 (GRCm39)	Q287L	probably damaging	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,437,841 (GRCm39)	M36I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6n2	A	G	1: 173,896,893 (GRCm39)	T10A	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde11a	C	T	2: 75,877,118 (GRCm39)		probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Polrmt	T	C	10: 79,577,832 (GRCm39)	T287A	probably benign	Het
Ppfia2	A	G	10: 106,732,281 (GRCm39)	I943V	possibly damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Scn9a	T	C	2: 66,398,475 (GRCm39)	E45G	probably damaging	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Shc1	T	C	3: 89,331,020 (GRCm39)	L106P	probably damaging	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slc28a3	C	A	13: 58,711,866 (GRCm39)	G487*	probably null	Het
Slc49a4	ACC	AC	16: 35,539,730 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Spta1	A	G	1: 174,046,017 (GRCm39)	T1594A	probably damaging	Het
Srarp	G	A	4: 141,160,690 (GRCm39)	Q48*	probably null	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Trpc6	A	T	9: 8,610,276 (GRCm39)	H248L	probably damaging	Het
Trpc6	A	G	9: 8,643,537 (GRCm39)	K441E	probably damaging	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Vmn1r63	A	G	7: 5,806,335 (GRCm39)	V99A	probably benign	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfhx2	C	A	14: 55,303,436 (GRCm39)	S1516I	possibly damaging	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	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
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
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

Posted On

2013-08-08