Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Aspscr1'

65317

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

038499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0277 (G1)

Quality Score

168

Status

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: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,815 (GRCm39)	K69R	unknown	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Acad11	T	C	9: 104,001,224 (GRCm39)	M708T	probably damaging	Het
Adam7	T	C	14: 68,748,306 (GRCm39)		probably null	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
Ak3	A	G	19: 29,025,192 (GRCm39)	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,481,305 (GRCm39)		probably benign	Het
Arhgef1	A	T	7: 24,623,224 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,223,051 (GRCm39)	N182S	probably benign	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
Atp8b3	T	C	10: 80,362,743 (GRCm39)	K672E	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
Casp6	T	A	3: 129,704,172 (GRCm39)	V86E	probably benign	Het
Cdca5	A	G	19: 6,140,742 (GRCm39)	E260G	unknown	Het
Cpb2	T	A	14: 75,502,898 (GRCm39)	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046 (GRCm39)	D1823G	probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	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
Fcgbp	G	T	7: 27,784,918 (GRCm39)		probably null	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
Gldc	A	G	19: 30,093,851 (GRCm39)	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619 (GRCm39)	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gnl3	A	C	14: 30,735,384 (GRCm39)		probably null	Het
Gsto1	A	T	19: 47,846,416 (GRCm39)	I88F	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
Hipk3	T	A	2: 104,271,593 (GRCm39)	L446F	probably damaging	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,827,274 (GRCm39)	D266G	probably benign	Het
Ipo4	T	C	14: 55,869,572 (GRCm39)	S363G	probably benign	Het
Kcnip3	A	G	2: 127,301,899 (GRCm39)		probably benign	Het
Klhl41	A	G	2: 69,501,640 (GRCm39)	Y367C	probably damaging	Het
Klk1b4	C	G	7: 43,861,053 (GRCm39)	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Mark1	A	G	1: 184,677,149 (GRCm39)	S34P	possibly damaging	Het
Megf11	G	A	9: 64,598,632 (GRCm39)		probably null	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Myo18b	A	G	5: 112,841,213 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,808,596 (GRCm39)		probably benign	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,776,855 (GRCm39)		probably benign	Het
Nfe2l3	T	A	6: 51,434,448 (GRCm39)	M336K	probably benign	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Nsun3	A	T	16: 62,597,007 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,315 (GRCm39)	E591G	probably benign	Het
Or10g1b	T	C	14: 52,627,846 (GRCm39)	Y128C	probably damaging	Het
Or10s1	G	A	9: 39,986,010 (GRCm39)	V140I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or4k2	T	C	14: 50,423,789 (GRCm39)	N296S	probably null	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
Or6z6	T	A	7: 6,491,433 (GRCm39)	M147L	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,887,208 (GRCm39)		probably benign	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620 (GRCm39)	P100Q	probably damaging	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
Prune2	A	T	19: 17,098,753 (GRCm39)	D1419V	probably 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
Rab11fip4	A	G	11: 79,577,455 (GRCm39)	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,437,813 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,821,897 (GRCm39)	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,817,272 (GRCm39)	M1K	probably null	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
Sipa1	A	T	19: 5,704,093 (GRCm39)	M743K	probably benign	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slco6b1	A	T	1: 96,916,398 (GRCm39)		noncoding transcript	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Sort1	T	C	3: 108,231,908 (GRCm39)		probably benign	Het
Spg21	A	T	9: 65,372,629 (GRCm39)	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,795,173 (GRCm39)	I1544F	probably benign	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,712,715 (GRCm39)		probably benign	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Sv2b	A	T	7: 74,856,187 (GRCm39)	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,711,856 (GRCm39)	S255P	probably damaging	Het
Tbx15	C	T	3: 99,259,707 (GRCm39)	P526L	probably damaging	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,948,384 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,950,109 (GRCm39)		probably benign	Het
Thsd7b	A	G	1: 130,123,000 (GRCm39)	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,636,771 (GRCm39)		probably null	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Wdfy4	T	C	14: 32,805,742 (GRCm39)	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,235,225 (GRCm39)	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfp455	G	T	13: 67,346,728 (GRCm39)		probably null	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
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
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