Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Aspscr1'

355155

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

041953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120563799-120600273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120579771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 39 (K39N)

Ref Sequence

ENSEMBL: ENSMUSP00000125931 (fasta)

Gene Model

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

AlphaFold

Q8VBT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026135
AA Change: K180N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: K180N

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

possibly damaging
Transcript: ENSMUST00000103016
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: K103N

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: K103N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: K103N

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

possibly damaging
Transcript: ENSMUST00000106159
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: K103N

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: K103N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: K103N

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

possibly damaging
Transcript: ENSMUST00000131727
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: K103N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135346
AA Change: K103N

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: K103N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168510
AA Change: K39N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125931
Gene: ENSMUSG00000025142
AA Change: K39N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149389
AA Change: K165N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: K165N

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: ENSMUST00000151160
AA Change: K103N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: K103N

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

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: ENSMUST00000143844

Predicted Effect

probably benign
Transcript: ENSMUST00000153346

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

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,369 (GRCm39)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,056,631 (GRCm39)	T123A	possibly damaging	Het
Abca4	T	C	3: 121,899,019 (GRCm39)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,929,040 (GRCm39)	S4P	possibly damaging	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Ahnak	C	A	19: 8,994,270 (GRCm39)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Atf7ip	C	T	6: 136,538,192 (GRCm39)	P483L	probably damaging	Het
Atp11a	C	G	8: 12,863,118 (GRCm39)	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,361,319 (GRCm39)	P476H	probably damaging	Het
Bltp1	C	T	3: 37,096,038 (GRCm39)	T1108I	probably benign	Het
C2cd3	A	G	7: 100,044,395 (GRCm39)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm39)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,024,840 (GRCm39)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,372,586 (GRCm39)	I107T	probably benign	Het
Cela2a	T	C	4: 141,548,722 (GRCm39)	N138S	probably benign	Het
Cfap61	A	C	2: 145,877,122 (GRCm39)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,345,612 (GRCm39)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,685,944 (GRCm39)	G683W	unknown	Het
Col4a2	G	A	8: 11,363,504 (GRCm39)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,551,283 (GRCm39)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,484 (GRCm39)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm39)	T690A	probably benign	Het
Cx3cl1	A	T	8: 95,506,835 (GRCm39)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,456,717 (GRCm39)	R36C	probably benign	Het
Ddx51	T	C	5: 110,803,174 (GRCm39)	V269A	probably damaging	Het
Dipk2a	T	C	9: 94,402,688 (GRCm39)	N325D	possibly damaging	Het
Dlst	G	T	12: 85,165,616 (GRCm39)		probably null	Het
Dmkn	G	C	7: 30,463,406 (GRCm39)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,304,948 (GRCm39)	I330T	probably damaging	Het
Dock3	G	A	9: 106,902,535 (GRCm39)	H292Y	probably damaging	Het
Ell	A	G	8: 71,031,584 (GRCm39)	D94G	possibly damaging	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Fam3d	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Fcgbp	A	G	7: 27,806,721 (GRCm39)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,393,344 (GRCm39)		probably benign	Het
Gas2l1	G	A	11: 5,010,867 (GRCm39)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,410,966 (GRCm39)	E86*	probably null	Het
Glyat	T	C	19: 12,628,661 (GRCm39)	L152P	possibly damaging	Het
Gm17330	T	C	12: 24,018,783 (GRCm39)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,157,591 (GRCm39)		noncoding transcript	Het
Gpatch1	A	T	7: 34,998,730 (GRCm39)		probably null	Het
Gpr4	T	C	7: 18,956,819 (GRCm39)	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,943,758 (GRCm39)	E214K	probably benign	Het
Hdac7	G	T	15: 97,709,468 (GRCm39)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,729,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,716,631 (GRCm39)	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,322,899 (GRCm39)	Y71C	probably damaging	Het
Il36b	T	C	2: 24,044,630 (GRCm39)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,265,711 (GRCm39)	S152I	probably damaging	Het
Jag1	C	A	2: 136,938,229 (GRCm39)	W257L	probably damaging	Het
Jak2	T	A	19: 29,272,315 (GRCm39)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,690,046 (GRCm39)	D247G	probably benign	Het
Kif15	A	G	9: 122,789,058 (GRCm39)		probably null	Het
Kndc1	A	G	7: 139,510,036 (GRCm39)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,059,170 (GRCm39)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,539,138 (GRCm39)		probably benign	Het
Lypd10	T	A	7: 24,412,934 (GRCm39)	L114Q	probably damaging	Het
Mfsd4a	A	T	1: 131,981,309 (GRCm39)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,550 (GRCm39)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,941,266 (GRCm39)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,760,340 (GRCm39)	I86T	probably damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm39)	T117A	probably damaging	Het
Nol11	A	G	11: 107,075,544 (GRCm39)		probably benign	Het
Nucb2	G	A	7: 116,139,262 (GRCm39)		probably null	Het
Nup58	G	T	14: 60,488,664 (GRCm39)	P19T	unknown	Het
Odf2	T	A	2: 29,794,046 (GRCm39)	L301Q	probably damaging	Het
Oog4	T	C	4: 143,165,445 (GRCm39)	Y234C	probably benign	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Papln	T	C	12: 83,823,982 (GRCm39)		probably null	Het
Paqr6	C	T	3: 88,273,236 (GRCm39)	A76V	probably benign	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,333,743 (GRCm39)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,705,368 (GRCm39)	Y189*	probably null	Het
Pknox2	A	T	9: 36,834,934 (GRCm39)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,935,581 (GRCm39)	L1735R	probably damaging	Het
Polm	T	A	11: 5,787,663 (GRCm39)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,328,265 (GRCm39)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,869,294 (GRCm39)	W414R	probably benign	Het
Rassf1	A	G	9: 107,435,066 (GRCm39)	D187G	probably benign	Het
Rhag	T	C	17: 41,147,329 (GRCm39)	I397T	probably benign	Het
Rnft2	A	G	5: 118,366,928 (GRCm39)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,447,196 (GRCm39)	F360S	probably damaging	Het
Ror2	C	T	13: 53,271,333 (GRCm39)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,247,084 (GRCm39)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,050,660 (GRCm39)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,031,289 (GRCm39)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tmem100	C	T	11: 89,926,389 (GRCm39)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,737,164 (GRCm39)	T350A	probably benign	Het
Ubr4	C	T	4: 139,177,840 (GRCm39)	T3241M	probably damaging	Het
Unc13d	A	T	11: 115,964,214 (GRCm39)	M350K	possibly damaging	Het
Vit	T	C	17: 78,932,543 (GRCm39)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Zbtb12	T	A	17: 35,115,377 (GRCm39)	H387Q	possibly 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
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
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'- GTGCCTTCAAGGACTACTCC -3'
(R):5'- TAGAGGTCTCAAGGACGCAG -3'

Sequencing Primer
(F):5'- AGGACTACTCCTTCCAGCC -3'
(R):5'- CAGGCTCACTGGTGCTTTGC -3'

Posted On

2015-10-21