Mutagenetix > Incidental Mutation

Incidental Mutation 'R3617:Ascc3'

268482

Institutional Source

Beutler Lab

Gene Symbol

Ascc3

Ensembl Gene

ENSMUSG00000038774

Gene Name

activating signal cointegrator 1 complex subunit 3

Synonyms

Helic1, B630009I04Rik, ASC1p200

MMRRC Submission

040674-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R3617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50468756-50727300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50494281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 239 (T239A)

Ref Sequence

ENSEMBL: ENSMUSP00000151273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035606] [ENSMUST00000219226] [ENSMUST00000220355]

AlphaFold

E9PZJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000035606
AA Change: T239A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: T239A

Domain	Start	End	E-Value	Type
coiled coil region	55	79	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
coiled coil region	329	356	N/A	INTRINSIC
DEXDc	474	686	1.71e-29	SMART
AAA	492	674	8.15e-2	SMART
Blast:DEXDc	718	763	4e-18	BLAST
HELICc	770	858	6.01e-16	SMART
Sec63	979	1288	3.53e-111	SMART
DEXDc	1324	1528	8.88e-28	SMART
AAA	1342	1492	4.27e-1	SMART
HELICc	1605	1695	2.28e-16	SMART
Sec63	1813	2178	6.37e-118	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219226

Predicted Effect

probably benign
Transcript: ENSMUST00000220355
AA Change: T239A

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

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

All alleles(16) : Targeted(2) Gene trapped(14)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,015 (GRCm39)	V460A	probably damaging	Het
Aplf	T	C	6: 87,648,865 (GRCm39)	I25V	possibly damaging	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cbfa2t2	A	T	2: 154,278,904 (GRCm39)		probably benign	Het
Ccdc168	T	C	1: 44,100,114 (GRCm39)	D328G	probably benign	Het
Cdkn1c	C	T	7: 143,013,531 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,219,515 (GRCm39)	S1317P	probably benign	Het
Cntln	C	T	4: 84,923,214 (GRCm39)	Q560*	probably null	Het
Cntn2	G	C	1: 132,456,361 (GRCm39)	A161G	probably benign	Het
Crybg1	A	G	10: 43,832,782 (GRCm39)	I1991T	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,189 (GRCm39)	E952G	probably damaging	Het
Dhx36	T	C	3: 62,379,428 (GRCm39)	T887A	possibly damaging	Het
Dhx36	A	G	3: 62,394,481 (GRCm39)	F512L	probably benign	Het
Fthl17f	A	G	X: 8,929,862 (GRCm39)	T153A	probably benign	Het
Gad1-ps	T	A	10: 99,281,260 (GRCm39)		noncoding transcript	Het
Gba2	C	T	4: 43,573,803 (GRCm39)	R163H	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gm17019	A	T	5: 15,081,081 (GRCm39)	M120K	possibly damaging	Het
Helz2	C	T	2: 180,874,854 (GRCm39)	R1880H	probably damaging	Het
Ifi204	T	C	1: 173,583,283 (GRCm39)	I312V	possibly damaging	Het
Kncn	T	C	4: 115,743,089 (GRCm39)	F55L	probably benign	Het
Kndc1	G	A	7: 139,481,976 (GRCm39)		probably benign	Het
Nat8f3	C	A	6: 85,738,670 (GRCm39)	A31S	probably benign	Het
Ndst4	T	C	3: 125,231,782 (GRCm39)	I117T	probably benign	Het
Ndufa9	G	T	6: 126,826,071 (GRCm39)		probably benign	Het
Nup42	T	C	5: 24,387,325 (GRCm39)	S372P	probably benign	Het
Pde6a	A	G	18: 61,364,575 (GRCm39)		probably benign	Het
Pigw	T	C	11: 84,769,133 (GRCm39)	I65M	probably damaging	Het
Pip	A	G	6: 41,828,871 (GRCm39)	T139A	probably benign	Het
Rel	A	T	11: 23,695,780 (GRCm39)	D202E	probably damaging	Het
Rhot2	A	G	17: 26,059,955 (GRCm39)		probably benign	Het
Sh3rf3	G	A	10: 58,922,685 (GRCm39)	R587Q	possibly damaging	Het
Sim1	T	A	10: 50,785,624 (GRCm39)	M231K	probably damaging	Het
Slc12a9	G	A	5: 137,330,759 (GRCm39)	T47M	probably damaging	Het
Slc4a4	A	G	5: 89,382,663 (GRCm39)	D1036G	probably benign	Het
Tas2r143	A	T	6: 42,377,997 (GRCm39)	I276F	probably benign	Het
Tgfbr3	A	T	5: 107,288,485 (GRCm39)	F392Y	possibly damaging	Het
Tmem266	T	C	9: 55,307,918 (GRCm39)	V148A	probably damaging	Het
Ubiad1	A	G	4: 148,520,817 (GRCm39)	I269T	probably benign	Het
Vwc2l	A	G	1: 70,768,041 (GRCm39)		probably null	Het
Zbtb49	G	A	5: 38,357,975 (GRCm39)		probably benign	Het

Other mutations in Ascc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ascc3	APN	10	50,590,531 (GRCm39)	missense	probably damaging	0.99
IGL00690:Ascc3	APN	10	50,576,039 (GRCm39)	nonsense	probably null
IGL00897:Ascc3	APN	10	50,604,187 (GRCm39)	missense	probably benign	0.01
IGL01077:Ascc3	APN	10	50,525,413 (GRCm39)	splice site	probably benign
IGL01124:Ascc3	APN	10	50,608,569 (GRCm39)	missense	probably damaging	1.00
IGL01555:Ascc3	APN	10	50,626,618 (GRCm39)	missense	probably damaging	1.00
IGL02019:Ascc3	APN	10	50,566,235 (GRCm39)	missense	probably damaging	1.00
IGL02161:Ascc3	APN	10	50,726,623 (GRCm39)	nonsense	probably null
IGL02247:Ascc3	APN	10	50,526,686 (GRCm39)	missense	probably damaging	1.00
IGL02318:Ascc3	APN	10	50,604,250 (GRCm39)	nonsense	probably null
IGL02428:Ascc3	APN	10	50,721,791 (GRCm39)	nonsense	probably null
IGL02432:Ascc3	APN	10	50,576,589 (GRCm39)	missense	probably damaging	0.99
IGL02449:Ascc3	APN	10	50,576,695 (GRCm39)	missense	probably benign	0.00
IGL02640:Ascc3	APN	10	50,643,470 (GRCm39)	missense	possibly damaging	0.69
IGL02673:Ascc3	APN	10	50,536,769 (GRCm39)	missense	probably benign	0.01
IGL03144:Ascc3	APN	10	50,643,539 (GRCm39)	missense	probably benign	0.16
IGL03161:Ascc3	APN	10	50,494,168 (GRCm39)	missense	probably damaging	0.98
IGL03218:Ascc3	APN	10	50,699,949 (GRCm39)	missense	possibly damaging	0.89
algorithm	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
heuristic	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
network	UTSW	10	50,630,175 (GRCm39)	missense	possibly damaging	0.53
R0045:Ascc3	UTSW	10	50,594,498 (GRCm39)	nonsense	probably null
R0045:Ascc3	UTSW	10	50,594,498 (GRCm39)	nonsense	probably null
R0131:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0131:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0132:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0149:Ascc3	UTSW	10	50,484,089 (GRCm39)	missense	probably benign	0.31
R0165:Ascc3	UTSW	10	50,718,223 (GRCm39)	splice site	probably null
R0255:Ascc3	UTSW	10	50,521,154 (GRCm39)	missense	probably benign	0.00
R0310:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0314:Ascc3	UTSW	10	50,514,095 (GRCm39)	missense	possibly damaging	0.92
R0362:Ascc3	UTSW	10	50,625,051 (GRCm39)	splice site	probably benign
R0418:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0419:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0421:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0480:Ascc3	UTSW	10	50,611,348 (GRCm39)	missense	probably damaging	1.00
R0744:Ascc3	UTSW	10	50,721,762 (GRCm39)	missense	probably benign	0.17
R0833:Ascc3	UTSW	10	50,721,762 (GRCm39)	missense	probably benign	0.17
R1231:Ascc3	UTSW	10	50,699,756 (GRCm39)	missense	probably damaging	1.00
R1264:Ascc3	UTSW	10	50,518,615 (GRCm39)	splice site	probably benign
R1302:Ascc3	UTSW	10	50,480,890 (GRCm39)	start codon destroyed	probably null	1.00
R1751:Ascc3	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
R1767:Ascc3	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
R1769:Ascc3	UTSW	10	50,576,586 (GRCm39)	missense	probably damaging	1.00
R1840:Ascc3	UTSW	10	50,566,257 (GRCm39)	missense	probably benign	0.00
R1855:Ascc3	UTSW	10	50,494,018 (GRCm39)	missense	probably benign	0.01
R1953:Ascc3	UTSW	10	50,721,726 (GRCm39)	missense	probably benign
R1976:Ascc3	UTSW	10	50,525,262 (GRCm39)	missense	probably damaging	1.00
R2004:Ascc3	UTSW	10	50,493,838 (GRCm39)	missense	probably damaging	1.00
R2013:Ascc3	UTSW	10	50,525,908 (GRCm39)	missense	probably damaging	0.99
R2017:Ascc3	UTSW	10	50,566,307 (GRCm39)	missense	probably benign	0.00
R2040:Ascc3	UTSW	10	50,604,227 (GRCm39)	missense	probably benign
R2043:Ascc3	UTSW	10	50,576,616 (GRCm39)	missense	probably damaging	1.00
R2165:Ascc3	UTSW	10	50,597,935 (GRCm39)	missense	probably damaging	1.00
R2226:Ascc3	UTSW	10	50,630,148 (GRCm39)	missense	probably benign	0.07
R2310:Ascc3	UTSW	10	50,624,988 (GRCm39)	missense	probably benign	0.15
R2405:Ascc3	UTSW	10	50,607,774 (GRCm39)	missense	probably damaging	1.00
R2424:Ascc3	UTSW	10	50,494,297 (GRCm39)	missense	probably benign	0.14
R3410:Ascc3	UTSW	10	50,576,196 (GRCm39)	missense	probably damaging	1.00
R3771:Ascc3	UTSW	10	50,596,814 (GRCm39)	splice site	probably benign
R3783:Ascc3	UTSW	10	50,604,350 (GRCm39)	missense	probably damaging	1.00
R3891:Ascc3	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
R3892:Ascc3	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
R4435:Ascc3	UTSW	10	50,597,981 (GRCm39)	missense	probably benign	0.14
R4509:Ascc3	UTSW	10	50,718,339 (GRCm39)	missense	probably benign	0.00
R4520:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4521:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4522:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4524:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4581:Ascc3	UTSW	10	50,587,121 (GRCm39)	missense	probably damaging	1.00
R4701:Ascc3	UTSW	10	50,596,760 (GRCm39)	missense	possibly damaging	0.66
R4704:Ascc3	UTSW	10	50,535,110 (GRCm39)	missense	probably benign	0.02
R4768:Ascc3	UTSW	10	50,576,595 (GRCm39)	missense	probably damaging	1.00
R4823:Ascc3	UTSW	10	50,589,329 (GRCm39)	missense	probably damaging	1.00
R4906:Ascc3	UTSW	10	50,625,227 (GRCm39)	missense	probably damaging	1.00
R4937:Ascc3	UTSW	10	50,699,894 (GRCm39)	missense	probably damaging	1.00
R5001:Ascc3	UTSW	10	50,699,744 (GRCm39)	missense	probably damaging	1.00
R5151:Ascc3	UTSW	10	50,514,059 (GRCm39)	missense	probably damaging	0.99
R5263:Ascc3	UTSW	10	50,592,757 (GRCm39)	missense	probably benign	0.00
R5302:Ascc3	UTSW	10	50,583,873 (GRCm39)	missense	probably benign	0.09
R5436:Ascc3	UTSW	10	50,535,079 (GRCm39)	missense	probably damaging	0.99
R5455:Ascc3	UTSW	10	50,725,679 (GRCm39)	missense	probably benign	0.06
R5474:Ascc3	UTSW	10	50,725,634 (GRCm39)	missense	probably benign	0.25
R5744:Ascc3	UTSW	10	50,586,977 (GRCm39)	missense	probably benign
R5781:Ascc3	UTSW	10	50,514,074 (GRCm39)	missense	probably damaging	1.00
R5850:Ascc3	UTSW	10	50,587,049 (GRCm39)	missense	probably damaging	1.00
R5867:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R5868:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R5869:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6031:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6031:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6032:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6032:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6109:Ascc3	UTSW	10	50,525,343 (GRCm39)	missense	probably benign	0.37
R6122:Ascc3	UTSW	10	50,494,021 (GRCm39)	missense	probably benign
R6128:Ascc3	UTSW	10	50,526,734 (GRCm39)	missense	probably damaging	1.00
R6351:Ascc3	UTSW	10	50,596,769 (GRCm39)	missense	probably damaging	0.99
R6368:Ascc3	UTSW	10	50,576,081 (GRCm39)	missense	probably damaging	1.00
R6369:Ascc3	UTSW	10	50,576,081 (GRCm39)	missense	probably damaging	1.00
R6409:Ascc3	UTSW	10	50,721,676 (GRCm39)	missense	probably benign	0.09
R6472:Ascc3	UTSW	10	50,596,783 (GRCm39)	missense	probably benign	0.03
R6474:Ascc3	UTSW	10	50,624,932 (GRCm39)	missense	probably benign	0.01
R6480:Ascc3	UTSW	10	50,587,049 (GRCm39)	missense	probably damaging	1.00
R6553:Ascc3	UTSW	10	50,718,273 (GRCm39)	missense	probably benign	0.05
R6572:Ascc3	UTSW	10	50,566,343 (GRCm39)	nonsense	probably null
R6585:Ascc3	UTSW	10	50,718,273 (GRCm39)	missense	probably benign	0.05
R6656:Ascc3	UTSW	10	50,526,021 (GRCm39)	nonsense	probably null
R6669:Ascc3	UTSW	10	50,716,469 (GRCm39)	missense	probably benign
R6675:Ascc3	UTSW	10	50,626,659 (GRCm39)	nonsense	probably null
R6790:Ascc3	UTSW	10	50,521,808 (GRCm39)	missense	probably damaging	1.00
R6856:Ascc3	UTSW	10	50,625,158 (GRCm39)	missense	probably damaging	1.00
R6862:Ascc3	UTSW	10	50,725,742 (GRCm39)	missense	probably null	0.51
R6919:Ascc3	UTSW	10	50,521,849 (GRCm39)	nonsense	probably null
R6936:Ascc3	UTSW	10	50,606,057 (GRCm39)	missense	probably damaging	0.98
R6953:Ascc3	UTSW	10	50,521,762 (GRCm39)	missense	probably benign	0.00
R6957:Ascc3	UTSW	10	50,604,278 (GRCm39)	missense	probably damaging	1.00
R7022:Ascc3	UTSW	10	50,592,725 (GRCm39)	missense	possibly damaging	0.55
R7050:Ascc3	UTSW	10	50,716,446 (GRCm39)	missense	probably benign	0.43
R7358:Ascc3	UTSW	10	50,590,448 (GRCm39)	nonsense	probably null
R7479:Ascc3	UTSW	10	50,525,895 (GRCm39)	missense	probably damaging	1.00
R7538:Ascc3	UTSW	10	50,721,796 (GRCm39)	missense	probably damaging	1.00
R7838:Ascc3	UTSW	10	50,604,393 (GRCm39)	missense	probably benign	0.04
R8021:Ascc3	UTSW	10	50,607,744 (GRCm39)	missense	probably benign	0.02
R8134:Ascc3	UTSW	10	50,643,554 (GRCm39)	missense	probably benign	0.02
R8252:Ascc3	UTSW	10	50,518,706 (GRCm39)	missense	probably benign
R8348:Ascc3	UTSW	10	50,494,173 (GRCm39)	missense	probably benign
R8351:Ascc3	UTSW	10	50,725,693 (GRCm39)	missense	probably benign
R8356:Ascc3	UTSW	10	50,526,003 (GRCm39)	missense	probably benign	0.38
R8362:Ascc3	UTSW	10	50,518,692 (GRCm39)	missense	possibly damaging	0.93
R8395:Ascc3	UTSW	10	50,525,400 (GRCm39)	missense	possibly damaging	0.93
R8448:Ascc3	UTSW	10	50,494,173 (GRCm39)	missense	probably benign
R8957:Ascc3	UTSW	10	50,576,208 (GRCm39)	missense	probably damaging	1.00
R9004:Ascc3	UTSW	10	50,718,276 (GRCm39)	missense	probably benign
R9133:Ascc3	UTSW	10	50,630,175 (GRCm39)	missense	possibly damaging	0.53
R9200:Ascc3	UTSW	10	50,521,787 (GRCm39)	missense	possibly damaging	0.55
R9328:Ascc3	UTSW	10	50,535,015 (GRCm39)	missense	probably damaging	1.00
R9377:Ascc3	UTSW	10	50,608,858 (GRCm39)	missense	possibly damaging	0.62
R9412:Ascc3	UTSW	10	50,525,230 (GRCm39)	missense	probably benign	0.00
R9576:Ascc3	UTSW	10	50,494,254 (GRCm39)	missense	possibly damaging	0.71
R9796:Ascc3	UTSW	10	50,608,801 (GRCm39)	nonsense	probably null
X0021:Ascc3	UTSW	10	50,576,686 (GRCm39)	missense	possibly damaging	0.88
X0025:Ascc3	UTSW	10	50,526,692 (GRCm39)	missense	probably benign	0.00
X0026:Ascc3	UTSW	10	50,608,574 (GRCm39)	missense	probably damaging	1.00
Z1177:Ascc3	UTSW	10	50,594,517 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGACATGTATGATCTGGACCAC -3'
(R):5'- ATACCAGGTTCCAGGTTCACTC -3'

Sequencing Primer
(F):5'- CTGGACCACTTTGATGAATTACC -3'
(R):5'- GTTCCAGGTTCACTCCCAATACAG -3'

Posted On

2015-02-19