Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Aspscr1'

454345

Institutional Source

Beutler Lab

Gene Symbol

Aspscr1

Ensembl Gene

ENSMUSG00000025142

Gene Name

alveolar soft part sarcoma chromosome region, candidate 1 (human)

Synonyms

ASPCR1, RCC17, TUG, ASPC, ASPL, 1190006K01Rik

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120672973-120709447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120688920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 31 (I31T)

Ref Sequence

ENSEMBL: ENSMUSP00000125931 (fasta)

Gene Model

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

AlphaFold

Q8VBT9

Predicted Effect

probably benign
Transcript: ENSMUST00000026135
AA Change: I172T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: I172T

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: ENSMUST00000103016
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: I95T

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: ENSMUST00000106158
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: I95T

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 benign
Transcript: ENSMUST00000106159
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: I95T

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: ENSMUST00000106160
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: I95T

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 benign
Transcript: ENSMUST00000131727
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: I95T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135346
AA Change: I95T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: I95T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143844

Predicted Effect

probably benign
Transcript: ENSMUST00000149389
AA Change: I157T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: I157T

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 benign
Transcript: ENSMUST00000151160
AA Change: I95T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: I95T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163273

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: 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

possibly damaging
Transcript: ENSMUST00000168510
AA Change: I31T

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142
AA Change: I31T

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Cep192	A	G	18: 67,815,864	D252G	probably benign	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	probably damaging	Het

Other mutations in Aspscr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02588:Aspscr1	APN	11	120677531	missense	possibly damaging	0.93
IGL02683:Aspscr1	APN	11	120701226	missense	probably damaging	1.00
IGL02719:Aspscr1	APN	11	120677579	missense	probably damaging	1.00
I1329:Aspscr1	UTSW	11	120701240	missense	probably damaging	0.99
R0113:Aspscr1	UTSW	11	120688925	missense	probably damaging	1.00
R0277:Aspscr1	UTSW	11	120678420	missense	probably damaging	1.00
R0323:Aspscr1	UTSW	11	120678420	missense	probably damaging	1.00
R0457:Aspscr1	UTSW	11	120677618	missense	probably benign	0.35
R0714:Aspscr1	UTSW	11	120703667	critical splice donor site	probably null
R1435:Aspscr1	UTSW	11	120689222	missense	probably benign	0.00
R1509:Aspscr1	UTSW	11	120701516	missense	probably damaging	1.00
R1739:Aspscr1	UTSW	11	120678516	missense	probably damaging	1.00
R1789:Aspscr1	UTSW	11	120688560	missense	probably damaging	1.00
R1958:Aspscr1	UTSW	11	120689208	missense	probably null	1.00
R2414:Aspscr1	UTSW	11	120689222	missense	probably benign	0.00
R2432:Aspscr1	UTSW	11	120702566	intron	probably benign
R4059:Aspscr1	UTSW	11	120686679	missense	probably benign	0.22
R4159:Aspscr1	UTSW	11	120708676	missense	probably damaging	1.00
R4703:Aspscr1	UTSW	11	120688945	missense	possibly damaging	0.87
R4705:Aspscr1	UTSW	11	120688945	missense	possibly damaging	0.87
R4748:Aspscr1	UTSW	11	120701507	missense	probably damaging	0.99
R5141:Aspscr1	UTSW	11	120689177	missense	probably benign	0.01
R7543:Aspscr1	UTSW	11	120709423	missense	unknown
R7555:Aspscr1	UTSW	11	120673100	missense	unknown
R7609:Aspscr1	UTSW	11	120677522	missense	probably damaging	0.99
R7670:Aspscr1	UTSW	11	120689039	missense	probably benign	0.00
R7946:Aspscr1	UTSW	11	120708617	missense
R7999:Aspscr1	UTSW	11	120678522	critical splice donor site	probably null
R8299:Aspscr1	UTSW	11	120709074	missense

Predicted Primers

PCR Primer
(F):5'- ACCCTAGAACGTCAGAGACTG -3'
(R):5'- TGTTTGCATCACCCTCATGG -3'

Sequencing Primer
(F):5'- CTGAGGTGGGAGAGCCTG -3'
(R):5'- GGTTTAGGTCTCCCCTGCTGAAC -3'

Posted On

2017-02-10