Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Aspscr1'

201646

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

039820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120672973-120709447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120688560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 78 (T78N)

Ref Sequence

ENSEMBL: ENSMUSP00000120072 (fasta)

Gene Model

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

AlphaFold

Q8VBT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026135
AA Change: T155N

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

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: T155N

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: T78N

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

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: T78N

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: T78N

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

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: T78N

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: T78N

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

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: T78N

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: T78N

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

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: T78N

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: ENSMUST00000131727
AA Change: T78N

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

SMART Domains

Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: T78N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135346
AA Change: T78N

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

SMART Domains

Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: T78N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143844

Predicted Effect

probably damaging
Transcript: ENSMUST00000149389
AA Change: T140N

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

SMART Domains

Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: T140N

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 damaging
Transcript: ENSMUST00000151160
AA Change: T78N

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

SMART Domains

Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: T78N

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

probably damaging
Transcript: ENSMUST00000168510
AA Change: T14N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142
AA Change: T14N

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163273

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: ENSMUST00000168714

SMART Domains

Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168097

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951 (GRCm38)	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393 (GRCm38)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115 (GRCm38)	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126 (GRCm38)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165 (GRCm38)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005 (GRCm38)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870 (GRCm38)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067 (GRCm38)	H231R	probably damaging	Het
Auts2	T	A	5: 131,472,450 (GRCm38)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808 (GRCm38)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993 (GRCm38)		probably null	Het
Chrna5	T	C	9: 55,004,651 (GRCm38)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921 (GRCm38)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305 (GRCm38)		probably null	Het
Col5a2	T	C	1: 45,394,776 (GRCm38)	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146 (GRCm38)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395 (GRCm38)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780 (GRCm38)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426 (GRCm38)	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919 (GRCm38)	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985 (GRCm38)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm38)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562 (GRCm38)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735 (GRCm38)	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584 (GRCm38)	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652 (GRCm38)	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202 (GRCm38)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057 (GRCm38)		probably benign	Het
Grin3b	T	C	10: 79,973,408 (GRCm38)	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718 (GRCm38)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781 (GRCm38)	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933 (GRCm38)	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512 (GRCm38)		probably null	Het
Itgb8	T	C	12: 119,202,455 (GRCm38)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384 (GRCm38)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008 (GRCm38)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361 (GRCm38)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074 (GRCm38)		probably benign	Het
L3mbtl1	A	G	2: 162,974,502 (GRCm38)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578 (GRCm38)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622 (GRCm38)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345 (GRCm38)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670 (GRCm38)		probably null	Het
Myo10	T	G	15: 25,726,525 (GRCm38)		probably null	Het
Myo1e	T	A	9: 70,338,784 (GRCm38)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572 (GRCm38)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095 (GRCm38)	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127 (GRCm38)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003 (GRCm38)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556 (GRCm38)	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890 (GRCm38)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431 (GRCm38)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490 (GRCm38)	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725 (GRCm38)	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983 (GRCm38)	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948 (GRCm38)	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697 (GRCm38)	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915 (GRCm38)	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607 (GRCm38)	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582 (GRCm38)	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228 (GRCm38)	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206 (GRCm38)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754 (GRCm38)	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632 (GRCm38)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524 (GRCm38)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536 (GRCm38)	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730 (GRCm38)	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565 (GRCm38)	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799 (GRCm38)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073 (GRCm38)	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221 (GRCm38)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273 (GRCm38)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242 (GRCm38)	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798 (GRCm38)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360 (GRCm38)	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219 (GRCm38)	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459 (GRCm38)		probably benign	Het
Spag17	T	A	3: 99,939,356 (GRCm38)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488 (GRCm38)		probably benign	Het
Stil	T	A	4: 115,041,782 (GRCm38)	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838 (GRCm38)	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246 (GRCm38)	Q478*	probably null	Het
Tg	A	T	15: 66,737,548 (GRCm38)	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033 (GRCm38)	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034 (GRCm38)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364 (GRCm38)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635 (GRCm38)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947 (GRCm38)	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780 (GRCm38)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993 (GRCm38)	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367 (GRCm38)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053 (GRCm38)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339 (GRCm38)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123 (GRCm38)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600 (GRCm38)	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525 (GRCm38)	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435 (GRCm38)		probably null	Het
Zfp277	A	G	12: 40,364,085 (GRCm38)	F254L	probably benign	Het

Other mutations in Aspscr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02588:Aspscr1	APN	11	120,677,531 (GRCm38)	missense	possibly damaging	0.93
IGL02683:Aspscr1	APN	11	120,701,226 (GRCm38)	missense	probably damaging	1.00
IGL02719:Aspscr1	APN	11	120,677,579 (GRCm38)	missense	probably damaging	1.00
I1329:Aspscr1	UTSW	11	120,701,240 (GRCm38)	missense	probably damaging	0.99
R0113:Aspscr1	UTSW	11	120,688,925 (GRCm38)	missense	probably damaging	1.00
R0277:Aspscr1	UTSW	11	120,678,420 (GRCm38)	missense	probably damaging	1.00
R0323:Aspscr1	UTSW	11	120,678,420 (GRCm38)	missense	probably damaging	1.00
R0457:Aspscr1	UTSW	11	120,677,618 (GRCm38)	missense	probably benign	0.35
R0714:Aspscr1	UTSW	11	120,703,667 (GRCm38)	critical splice donor site	probably null
R1435:Aspscr1	UTSW	11	120,689,222 (GRCm38)	missense	probably benign	0.00
R1509:Aspscr1	UTSW	11	120,701,516 (GRCm38)	missense	probably damaging	1.00
R1739:Aspscr1	UTSW	11	120,678,516 (GRCm38)	missense	probably damaging	1.00
R1958:Aspscr1	UTSW	11	120,689,208 (GRCm38)	missense	probably null	1.00
R2414:Aspscr1	UTSW	11	120,689,222 (GRCm38)	missense	probably benign	0.00
R2432:Aspscr1	UTSW	11	120,702,566 (GRCm38)	intron	probably benign
R4059:Aspscr1	UTSW	11	120,686,679 (GRCm38)	missense	probably benign	0.22
R4159:Aspscr1	UTSW	11	120,708,676 (GRCm38)	missense	probably damaging	1.00
R4703:Aspscr1	UTSW	11	120,688,945 (GRCm38)	missense	possibly damaging	0.87
R4705:Aspscr1	UTSW	11	120,688,945 (GRCm38)	missense	possibly damaging	0.87
R4748:Aspscr1	UTSW	11	120,701,507 (GRCm38)	missense	probably damaging	0.99
R5141:Aspscr1	UTSW	11	120,689,177 (GRCm38)	missense	probably benign	0.01
R5869:Aspscr1	UTSW	11	120,688,920 (GRCm38)	missense	possibly damaging	0.55
R7543:Aspscr1	UTSW	11	120,709,423 (GRCm38)	missense	unknown
R7555:Aspscr1	UTSW	11	120,673,100 (GRCm38)	missense	unknown
R7609:Aspscr1	UTSW	11	120,677,522 (GRCm38)	missense	probably damaging	0.99
R7670:Aspscr1	UTSW	11	120,689,039 (GRCm38)	missense	probably benign	0.00
R7946:Aspscr1	UTSW	11	120,708,617 (GRCm38)	missense
R7999:Aspscr1	UTSW	11	120,678,522 (GRCm38)	critical splice donor site	probably null
R8299:Aspscr1	UTSW	11	120,709,074 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- ACTTTTAGGGGCAGCTGAGG -3'
(R):5'- TCCTTGAAGGCACAGTAGGGAC -3'

Sequencing Primer
(F):5'- GTGTGTGGAAAGAGAATCCCTC -3'
(R):5'- CAGTAGGGACTGTACTACCTACATTC -3'

Posted On

2014-06-23