Mutagenetix > Incidental Mutation

Incidental Mutation 'R1739:Aspscr1'

200216

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

039771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1739 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

120672973-120709447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120678516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 47 (T47A)

Ref Sequence

ENSEMBL: ENSMUSP00000129462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026135] [ENSMUST00000103016] [ENSMUST00000106158] [ENSMUST00000106159] [ENSMUST00000106160] [ENSMUST00000127269] [ENSMUST00000129644] [ENSMUST00000131727] [ENSMUST00000135346] [ENSMUST00000143844] [ENSMUST00000149389] [ENSMUST00000151160] [ENSMUST00000153346] [ENSMUST00000168097] [ENSMUST00000168714]

AlphaFold

Q8VBT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026135
AA Change: T124A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026135
Gene: ENSMUSG00000025142
AA Change: T124A

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: T47A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099305
Gene: ENSMUSG00000025142
AA Change: T47A

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: T47A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101764
Gene: ENSMUSG00000025142
AA Change: T47A

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: T47A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101765
Gene: ENSMUSG00000025142
AA Change: T47A

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: T47A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101766
Gene: ENSMUSG00000025142
AA Change: T47A

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: ENSMUST00000127269

Predicted Effect

probably benign
Transcript: ENSMUST00000129644

Predicted Effect

probably damaging
Transcript: ENSMUST00000131727
AA Change: T47A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117654
Gene: ENSMUSG00000025142
AA Change: T47A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135346
AA Change: T47A

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120072
Gene: ENSMUSG00000025142
AA Change: T47A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143844
AA Change: T47A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000149389
AA Change: T109A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122216
Gene: ENSMUSG00000025142
AA Change: T109A

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: T47A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116447
Gene: ENSMUSG00000025142
AA Change: T47A

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 damaging
Transcript: ENSMUST00000153346
AA Change: T47A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168097
AA Change: T47A

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000168714
AA Change: T47A

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

SMART Domains

Protein: ENSMUSP00000129462
Gene: ENSMUSG00000025142
AA Change: T47A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171700

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 231 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,278,306 (GRCm38)	T1059I	probably benign	Het
Abcb11	C	T	2: 69,261,566 (GRCm38)	A871T	probably damaging	Het
Acot7	T	C	4: 152,260,912 (GRCm38)	L313P	probably damaging	Het
Adam20	T	A	8: 40,796,558 (GRCm38)	H568Q	probably benign	Het
Adam26b	T	A	8: 43,521,677 (GRCm38)	D96V	probably damaging	Het
Adgrf4	C	T	17: 42,666,898 (GRCm38)	R518Q	possibly damaging	Het
Apbb1	A	G	7: 105,574,227 (GRCm38)	V59A	probably benign	Het
Apc	A	G	18: 34,312,318 (GRCm38)	K722E	probably damaging	Het
Aspm	A	G	1: 139,473,574 (GRCm38)	I1111V	probably benign	Het
Atr	G	A	9: 95,897,581 (GRCm38)	V1331I	probably benign	Het
Baz1a	G	A	12: 54,898,788 (GRCm38)	R1261*	probably null	Het
C2cd2l	C	A	9: 44,319,743 (GRCm38)	R49L	probably benign	Het
C4bp	C	G	1: 130,642,988 (GRCm38)	V284L	probably benign	Het
Cacna1c	A	C	6: 118,610,544 (GRCm38)	M1287R	probably damaging	Het
Cacna1s	T	C	1: 136,118,716 (GRCm38)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315 (GRCm38)	R802Q	probably benign	Het
Capn9	G	A	8: 124,605,711 (GRCm38)	G430R	possibly damaging	Het
Ccdc177	A	G	12: 80,759,239 (GRCm38)	V87A	probably damaging	Het
Ccdc178	T	A	18: 22,097,723 (GRCm38)	I364F	possibly damaging	Het
Ccdc93	T	C	1: 121,461,939 (GRCm38)	V237A	probably benign	Het
Ccdc93	C	T	1: 121,456,126 (GRCm38)	P192L	probably benign	Het
Cd55	C	A	1: 130,459,633 (GRCm38)	A143S	probably benign	Het
Cd55	C	T	1: 130,449,423 (GRCm38)	V333I	probably benign	Het
Cdh19	C	A	1: 110,893,384 (GRCm38)	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735 (GRCm38)	L307V	possibly damaging	Het
Cep120	A	G	18: 53,719,214 (GRCm38)		probably null	Het
Cep128	G	T	12: 91,022,491 (GRCm38)		probably null	Het
Cep131	T	C	11: 120,083,906 (GRCm38)	I23V	probably benign	Het
Cfc1	A	G	1: 34,537,234 (GRCm38)	D125G	probably damaging	Het
Cfh	C	T	1: 140,147,697 (GRCm38)	V268I	possibly damaging	Het
Cfh	T	C	1: 140,136,788 (GRCm38)	K374R	probably benign	Het
Cfhr2	A	C	1: 139,813,459 (GRCm38)	N259K	probably benign	Het
Cfhr2	A	G	1: 139,813,442 (GRCm38)	M265T	probably benign	Het
Chi3l1	C	T	1: 134,188,529 (GRCm38)	A250V	probably damaging	Het
Clca1	C	A	3: 145,007,778 (GRCm38)	M697I	probably benign	Het
Clec4a3	C	T	6: 122,954,041 (GRCm38)	Q30*	probably null	Het
Cntnap3	T	A	13: 64,740,592 (GRCm38)	R1232S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143 (GRCm38)	T1047I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101 (GRCm38)	L1033S	probably benign	Het
Cntnap5a	C	A	1: 116,455,004 (GRCm38)	L1001I	probably benign	Het
Col12a1	T	A	9: 79,633,468 (GRCm38)	I2412F	probably damaging	Het
Crb1	C	T	1: 139,243,417 (GRCm38)	R684H	probably benign	Het
Crb1	C	T	1: 139,242,995 (GRCm38)	G825R	probably damaging	Het
Crb1	G	A	1: 139,241,138 (GRCm38)	P881S	probably damaging	Het
Crb1	A	T	1: 139,237,622 (GRCm38)	H921Q	probably benign	Het
Crb1	T	C	1: 139,234,779 (GRCm38)	M1214V	probably benign	Het
Cxcl2	C	T	5: 90,904,158 (GRCm38)	T41I	probably damaging	Het
Cxcr4	C	T	1: 128,589,277 (GRCm38)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667 (GRCm38)	R147W	probably damaging	Het
Ddx59	T	C	1: 136,417,053 (GRCm38)	V154A	probably benign	Het
Disp2	T	C	2: 118,791,550 (GRCm38)	V921A	probably damaging	Het
Dnajc10	C	G	2: 80,347,662 (GRCm38)	A671G	probably benign	Het
Dner	T	C	1: 84,370,784 (GRCm38)	I732V	probably damaging	Het
Dsel	T	C	1: 111,859,457 (GRCm38)	N1116S	probably benign	Het
Dsel	G	C	1: 111,859,994 (GRCm38)	T937S	probably benign	Het
Dstyk	C	T	1: 132,456,984 (GRCm38)	L739F	probably damaging	Het
Dysf	T	C	6: 84,112,235 (GRCm38)		probably null	Het
Eefsec	T	A	6: 88,376,205 (GRCm38)	K161*	probably null	Het
Ehhadh	G	C	16: 21,762,253 (GRCm38)	A663G	probably benign	Het
En1	A	G	1: 120,603,621 (GRCm38)	S197G	unknown	Het
Etnk2	A	G	1: 133,363,923 (GRCm38)	S54G	probably benign	Het
Etnk2	C	A	1: 133,365,587 (GRCm38)	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765 (GRCm38)	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816 (GRCm38)	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817 (GRCm38)	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915 (GRCm38)	V292E	probably benign	Het
Exph5	T	C	9: 53,375,588 (GRCm38)	V1323A	possibly damaging	Het
Eya2	G	T	2: 165,687,663 (GRCm38)	G109W	probably damaging	Het
Fam72a	T	C	1: 131,530,668 (GRCm38)	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895 (GRCm38)	T139M	probably benign	Het
Fcamr	T	C	1: 130,812,738 (GRCm38)	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809 (GRCm38)	M322V	probably benign	Het
Fcamr	G	A	1: 130,812,629 (GRCm38)	G262S	probably benign	Het
Fcamr	A	G	1: 130,811,580 (GRCm38)	I206V	probably benign	Het
Fcamr	A	C	1: 130,804,627 (GRCm38)	N117T	probably benign	Het
Fcamr	C	T	1: 130,812,816 (GRCm38)	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597 (GRCm38)	N574D	probably benign	Het
Fcamr	A	G	1: 130,812,692 (GRCm38)	I283V	probably benign	Het
Fcmr	T	C	1: 130,878,269 (GRCm38)	S321P	probably benign	Het
Fcmr	A	G	1: 130,875,974 (GRCm38)	T172A	probably benign	Het
Focad	T	C	4: 88,397,891 (GRCm38)	M1560T	probably benign	Het
Gadd45gip1	T	A	8: 84,832,292 (GRCm38)	M1K	probably null	Het
Gbgt1	T	C	2: 28,505,052 (GRCm38)	V234A	possibly damaging	Het
Gin1	T	A	1: 97,786,104 (GRCm38)	D376E	probably damaging	Het
Git1	A	T	11: 77,498,982 (GRCm38)	I24F	probably damaging	Het
Gli2	G	T	1: 119,002,044 (GRCm38)	H44Q	probably benign	Het
Gli2	C	T	1: 118,868,087 (GRCm38)	A113T	possibly damaging	Het
Gnptab	T	C	10: 88,436,095 (GRCm38)	Y916H	probably benign	Het
Gpr25	G	A	1: 136,260,710 (GRCm38)	P55L	probably benign	Het
Heg1	T	G	16: 33,738,583 (GRCm38)	I1058S	possibly damaging	Het
Hivep3	A	G	4: 120,095,174 (GRCm38)	Y229C	probably benign	Het
Idi1	T	C	13: 8,890,411 (GRCm38)	F210L	probably benign	Het
Igfn1	G	A	1: 135,959,928 (GRCm38)	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199 (GRCm38)	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411 (GRCm38)	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127 (GRCm38)	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915 (GRCm38)	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475 (GRCm38)	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625 (GRCm38)	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683 (GRCm38)	I10V	unknown	Het
Ikbke	T	C	1: 131,269,823 (GRCm38)	S447G	probably benign	Het
Ikbke	C	A	1: 131,265,937 (GRCm38)	A459S	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268 (GRCm38)		probably benign	Het
Ipo9	A	G	1: 135,402,250 (GRCm38)	V484A	probably benign	Het
Jarid2	T	A	13: 44,906,276 (GRCm38)	N661K	probably damaging	Het
Kat7	T	G	11: 95,276,547 (GRCm38)	I455L	possibly damaging	Het
Kcnh5	G	T	12: 75,114,229 (GRCm38)	P302T	probably damaging	Het
Kcnt2	G	A	1: 140,354,547 (GRCm38)	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279 (GRCm38)	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975 (GRCm38)	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365 (GRCm38)	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332 (GRCm38)	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431 (GRCm38)	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961 (GRCm38)	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783 (GRCm38)	V1433A	probably benign	Het
Krtap12-1	C	T	10: 77,720,992 (GRCm38)	T123I	possibly damaging	Het
Ksr1	G	A	11: 79,047,305 (GRCm38)	T49I	probably damaging	Het
Lad1	C	T	1: 135,827,381 (GRCm38)	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023 (GRCm38)	R346C	probably damaging	Het
Lat2	T	C	5: 134,606,369 (GRCm38)	H89R	possibly damaging	Het
Lax1	G	A	1: 133,683,634 (GRCm38)	P67S	probably damaging	Het
Lax1	T	C	1: 133,680,569 (GRCm38)	N145D	probably benign	Het
Lax1	T	C	1: 133,679,978 (GRCm38)	R342G	probably benign	Het
Lgr6	C	T	1: 135,003,476 (GRCm38)	S3N	probably benign	Het
Lgr6	G	T	1: 134,990,635 (GRCm38)	H263N	probably benign	Het
Lgr6	A	T	1: 134,988,009 (GRCm38)	S334T	probably benign	Het
Lgr6	C	T	1: 134,987,088 (GRCm38)	V641I	probably benign	Het
Lmod1	C	T	1: 135,364,073 (GRCm38)	T222I	probably benign	Het
Man2a2	T	C	7: 80,362,438 (GRCm38)	E657G	probably benign	Het
Mfsd4a	C	T	1: 132,067,883 (GRCm38)	D4N	possibly damaging	Het
Mn1	G	T	5: 111,420,014 (GRCm38)	A617S	possibly damaging	Het
Mov10	T	C	3: 104,800,282 (GRCm38)	D592G	probably damaging	Het
Mroh3	G	C	1: 136,192,144 (GRCm38)	Q440E	possibly damaging	Het
Mtmr12	A	T	15: 12,245,019 (GRCm38)	T207S	probably benign	Het
Musk	G	A	4: 58,293,563 (GRCm38)	V51M	probably damaging	Het
Mybph	C	T	1: 134,197,480 (GRCm38)	R249C	probably benign	Het
Naglu	C	T	11: 101,076,403 (GRCm38)	A393V	possibly damaging	Het
Nav1	A	T	1: 135,584,727 (GRCm38)	D198E	possibly damaging	Het
Ncan	T	A	8: 70,108,086 (GRCm38)	T744S	probably benign	Het
Nlrp4c	T	A	7: 6,073,222 (GRCm38)	V707E	probably damaging	Het
Nr5a2	C	A	1: 136,952,125 (GRCm38)	R35L	probably benign	Het
Nrcam	A	T	12: 44,571,675 (GRCm38)	Q822L	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,903,796 (GRCm38)		probably null	Het
Optc	C	G	1: 133,905,170 (GRCm38)	S64T	probably benign	Het
Or2f1	C	A	6: 42,744,135 (GRCm38)	L33M	possibly damaging	Het
Or4a68	C	T	2: 89,439,583 (GRCm38)	R232H	probably benign	Het
Or4c124	T	A	2: 89,325,566 (GRCm38)	I205F	probably benign	Het
Pak1	T	A	7: 97,904,695 (GRCm38)	V424E	probably damaging	Het
Pdcd6	G	A	13: 74,304,041 (GRCm38)	T160I	probably damaging	Het
Phf21a	C	T	2: 92,360,299 (GRCm38)	T535M	possibly damaging	Het
Pigr	C	T	1: 130,844,522 (GRCm38)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627 (GRCm38)	P110S	probably benign	Het
Pkdrej	G	A	15: 85,820,427 (GRCm38)	T436I	probably benign	Het
Plekha6	C	G	1: 133,287,846 (GRCm38)	T792S	probably benign	Het
Ppil2	C	G	16: 17,089,419 (GRCm38)		probably benign	Het
Ppip5k2	A	T	1: 97,728,957 (GRCm38)	H830Q	probably damaging	Het
Prelp	C	T	1: 133,915,131 (GRCm38)	R92K	probably benign	Het
Ptpn7	A	G	1: 135,134,475 (GRCm38)	Q53R	probably benign	Het
Ptprc	A	G	1: 138,107,823 (GRCm38)	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824 (GRCm38)	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837 (GRCm38)	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254 (GRCm38)	K212E	possibly damaging	Het
Ptprc	T	G	1: 138,099,676 (GRCm38)	N478T	probably benign	Het
Rab29	A	G	1: 131,872,110 (GRCm38)	Q141R	probably benign	Het
Ren1	C	G	1: 133,360,007 (GRCm38)	L360V	probably benign	Het
Ren1	A	T	1: 133,359,983 (GRCm38)	N352Y	probably benign	Het
Ren1	A	T	1: 133,359,079 (GRCm38)	E315D	probably benign	Het
Ren1	A	C	1: 133,356,457 (GRCm38)	K187Q	probably benign	Het
Ren1	C	T	1: 133,354,237 (GRCm38)	T32I	probably benign	Het
Ren1	T	A	1: 133,354,206 (GRCm38)	W22R	probably damaging	Het
Rnpep	C	T	1: 135,263,096 (GRCm38)	A571T	possibly damaging	Het
Rnpep	C	G	1: 135,283,629 (GRCm38)	R127P	probably benign	Het
Ro60	T	C	1: 143,760,034 (GRCm38)	D458G	probably benign	Het
Ro60	C	T	1: 143,760,014 (GRCm38)	V465I	probably benign	Het
Sctr	T	C	1: 120,031,656 (GRCm38)	F110L	probably benign	Het
Sctr	G	T	1: 120,063,246 (GRCm38)	E453D	probably benign	Het
Sctr	G	A	1: 120,063,257 (GRCm38)	S440N	possibly damaging	Het
Sema4a	A	G	3: 88,436,838 (GRCm38)	L702P	possibly damaging	Het
Septin4	A	T	11: 87,583,436 (GRCm38)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473 (GRCm38)	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635 (GRCm38)	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834 (GRCm38)	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890 (GRCm38)	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894 (GRCm38)	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543 (GRCm38)	S284R	probably benign	Het
Serpinb8	A	G	1: 107,597,527 (GRCm38)	S20G	probably benign	Het
Serpinb8	G	A	1: 107,598,954 (GRCm38)	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004 (GRCm38)	L268F	probably benign	Het
Shank2	A	T	7: 144,179,853 (GRCm38)	N482Y	probably damaging	Het
Shc3	A	T	13: 51,482,916 (GRCm38)	V72E	probably damaging	Het
Slc26a9	C	T	1: 131,763,870 (GRCm38)	A617V	probably benign	Het
Slc45a4	A	G	15: 73,586,038 (GRCm38)	I562T	probably damaging	Het
Smc6	T	G	12: 11,317,853 (GRCm38)	V1088G	probably benign	Het
Snx32	C	A	19: 5,496,111 (GRCm38)	R341L	probably benign	Het
Specc1	C	T	11: 62,118,818 (GRCm38)	Q467*	probably null	Het
Speer1c	T	C	5: 10,245,204 (GRCm38)	I90V	possibly damaging	Het
Spock3	A	T	8: 63,348,947 (GRCm38)	N323I	probably damaging	Het
Stac3	A	G	10: 127,507,766 (GRCm38)	K259R	probably benign	Het
Steap3	T	C	1: 120,227,750 (GRCm38)	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378 (GRCm38)	A350V	probably benign	Het
Stx3	A	G	19: 11,785,523 (GRCm38)	I163T	probably damaging	Het
Suco	A	G	1: 161,827,655 (GRCm38)		probably null	Het
Syngr4	A	G	7: 45,888,722 (GRCm38)	F74S	possibly damaging	Het
Synpo2l	G	A	14: 20,665,819 (GRCm38)	P233S	probably damaging	Het
Tcf4	A	T	18: 69,642,970 (GRCm38)	T163S	probably damaging	Het
Thsd7b	C	T	1: 129,628,891 (GRCm38)	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937 (GRCm38)	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183 (GRCm38)	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631 (GRCm38)	Q1116P	probably benign	Het
Tlk1	T	C	2: 70,721,077 (GRCm38)	Y634C	probably damaging	Het
Tnnt2	C	T	1: 135,845,506 (GRCm38)		probably benign	Het
Tox2	T	C	2: 163,247,785 (GRCm38)	Y66H	probably damaging	Het
Ttn	C	T	2: 76,813,339 (GRCm38)	G11436R	probably damaging	Het
Ttyh1	G	A	7: 4,129,349 (GRCm38)	M261I	probably benign	Het
Ubap2	A	G	4: 41,206,849 (GRCm38)	V509A	probably benign	Het
Ube2t	C	T	1: 134,972,167 (GRCm38)	A149V	probably benign	Het
Ucp3	G	C	7: 100,482,720 (GRCm38)	M259I	probably benign	Het
Unc80	A	T	1: 66,527,892 (GRCm38)	N886Y	probably damaging	Het
Vmn1r197	T	A	13: 22,328,371 (GRCm38)	L154Q	possibly damaging	Het
Vmn1r40	T	A	6: 89,714,315 (GRCm38)	M38K	probably benign	Het
Vmn2r78	C	A	7: 86,920,789 (GRCm38)	Q172K	probably benign	Het
Zc3h11a	G	A	1: 133,622,154 (GRCm38)	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621 (GRCm38)	V583I	probably benign	Het
Zfhx4	A	T	3: 5,401,730 (GRCm38)	D2316V	probably damaging	Het
Zfp108	T	C	7: 24,261,310 (GRCm38)	V442A	probably damaging	Het
Zfp260	A	T	7: 30,104,806 (GRCm38)	T44S	probably benign	Het
Zfp873	C	A	10: 82,060,707 (GRCm38)	T424N	probably damaging	Het
Zp3r	A	G	1: 130,596,814 (GRCm38)	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414 (GRCm38)	E8D	possibly damaging	Het
Zswim2	T	A	2: 83,915,340 (GRCm38)	K585*	probably null	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
R1789:Aspscr1	UTSW	11	120,688,560 (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'- TGGAGACTGGCTCTGCTCAGATAG -3'
(R):5'- ACATGGGGAGACACAGCCTACATC -3'

Sequencing Primer
(F):5'- TTTCTGTTCCCGACAGACTC -3'
(R):5'- TTTGGGTCCCCACAAAGATG -3'

Posted On

2014-05-23