Mutagenetix > Incidental Mutation

Incidental Mutation 'R4159:Aspscr1'

315666

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

041002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120563799-120600273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120599502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 377 (A377T)

Ref Sequence

ENSEMBL: ENSMUSP00000101765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000026137] [ENSMUST00000055424] [ENSMUST00000103016] [ENSMUST00000106154] [ENSMUST00000106155] [ENSMUST00000106158] [ENSMUST00000168947] [ENSMUST00000168714] [ENSMUST00000106160] [ENSMUST00000106159] [ENSMUST00000168510]

AlphaFold

Q8VBT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026135
AA Change: A454T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: A454T

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 benign
Transcript: ENSMUST00000026137

SMART Domains

Protein: ENSMUSP00000026137
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	55	107	3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055424

SMART Domains

Protein: ENSMUSP00000050335
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	8	78	7.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103016
AA Change: A377T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: A377T

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 benign
Transcript: ENSMUST00000106154

SMART Domains

Protein: ENSMUSP00000101760
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	44	114	6.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106155

SMART Domains

Protein: ENSMUSP00000101761
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
low complexity region	39	50	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106158
AA Change: A356T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: A356T

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: ENSMUST00000152990

Predicted Effect

unknown
Transcript: ENSMUST00000168947
AA Change: C19Y

Predicted Effect

probably benign
Transcript: ENSMUST00000168714
AA Change: A74T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142
AA Change: A74T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106160
AA Change: A356T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: A356T

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

silent
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

silent
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 damaging
Transcript: ENSMUST00000106159
AA Change: A377T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: A377T

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

noncoding transcript
Transcript: ENSMUST00000163273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151531

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

Meta Mutation Damage Score

0.2377

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (45/47)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,466,806 (GRCm39)	D605A	probably damaging	Het
Adcy1	A	G	11: 7,013,889 (GRCm39)	H97R	probably damaging	Het
Amdhd1	A	G	10: 93,370,512 (GRCm39)	Y109H	probably damaging	Het
Ankhd1	A	G	18: 36,722,593 (GRCm39)	N372S	possibly damaging	Het
Aoc2	G	A	11: 101,216,122 (GRCm39)	M68I	probably damaging	Het
Bltp1	T	A	3: 36,985,232 (GRCm39)	M854K	probably benign	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cacnb1	G	C	11: 97,903,100 (GRCm39)	C154W	probably damaging	Het
Ccdc186	G	A	19: 56,781,924 (GRCm39)	R27*	probably null	Het
Clnk	C	A	5: 38,899,138 (GRCm39)		probably benign	Het
Dse	A	G	10: 34,029,330 (GRCm39)	F587L	probably damaging	Het
Fut8	T	C	12: 77,440,523 (GRCm39)	L170P	probably damaging	Het
G3bp2	T	C	5: 92,212,260 (GRCm39)	H217R	probably benign	Het
Gm19345	G	A	7: 19,588,886 (GRCm39)		probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kcne4	A	G	1: 78,795,819 (GRCm39)	N156D	probably benign	Het
Met	G	T	6: 17,562,271 (GRCm39)		probably null	Het
Mfsd3	T	C	15: 76,585,945 (GRCm39)	L26P	probably damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pde8a	A	G	7: 80,970,407 (GRCm39)	I510V	probably benign	Het
Pds5a	T	C	5: 65,821,839 (GRCm39)	T120A	possibly damaging	Het
Phf8-ps	G	A	17: 33,285,023 (GRCm39)	T593I	probably benign	Het
Phkb	T	A	8: 86,748,162 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,683 (GRCm39)	K1258*	probably null	Het
Senp7	C	A	16: 55,973,832 (GRCm39)	P351Q	possibly damaging	Het
Slc15a5	G	T	6: 138,049,938 (GRCm39)	T159K	possibly damaging	Het
Slc39a6	A	G	18: 24,730,885 (GRCm39)	V362A	possibly damaging	Het
Spef2	A	T	15: 9,676,407 (GRCm39)	D721E	probably damaging	Het
Sting1	A	T	18: 35,872,272 (GRCm39)	Y77N	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Ttll8	T	C	15: 88,801,444 (GRCm39)	N415D	probably benign	Het
Ube2d2a	A	T	18: 35,903,577 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,036,512 (GRCm39)		probably benign	Het
Ush2a	G	A	1: 188,460,907 (GRCm39)	V2723M	probably damaging	Het
Vmn2r102	T	A	17: 19,898,088 (GRCm39)	C368S	probably damaging	Het
Vmn2r3	G	A	3: 64,194,850 (GRCm39)	Q23*	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
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
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'- TCACATGAGAAGTGGGGTTC -3'
(R):5'- AGATGAGACCTGCACTTGC -3'

Sequencing Primer
(F):5'- GGTTCCCAACTGGTGCTCTG -3'
(R):5'- ACATGCTGCCAGTGGTG -3'

Posted On

2015-05-14