Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02428:Ascc3'

293000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ascc3

Ensembl Gene

ENSMUSG00000038774

Gene Name

activating signal cointegrator 1 complex subunit 3

Synonyms

Helic1, B630009I04Rik, ASC1p200

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL02428

Quality Score

Status

Chromosome

Chromosomal Location

50468756-50727300 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 50721791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 2081 (Y2081*)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

AlphaFold

E9PZJ8

Predicted Effect

probably null
Transcript: ENSMUST00000035606
AA Change: Y2081*

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: Y2081*

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

noncoding transcript
Transcript: ENSMUST00000217725

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	C	14: 32,110,205 (GRCm39)		probably benign	Het
AB124611	C	T	9: 21,440,221 (GRCm39)	S69L	possibly damaging	Het
Abca6	G	A	11: 110,069,618 (GRCm39)	A1566V	possibly damaging	Het
Ahnak	A	G	19: 8,992,197 (GRCm39)	I4494V	possibly damaging	Het
Cdc42bpb	T	C	12: 111,289,561 (GRCm39)	T423A	probably benign	Het
Cdh6	T	A	15: 13,064,516 (GRCm39)	I125F	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,368,609 (GRCm39)	L1845P	possibly damaging	Het
Epha4	A	G	1: 77,483,385 (GRCm39)	V208A	possibly damaging	Het
Fanci	A	G	7: 79,094,264 (GRCm39)		probably benign	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Flnc	A	G	6: 29,451,484 (GRCm39)	D1566G	probably damaging	Het
Gm11565	A	G	11: 99,805,811 (GRCm39)	T68A	probably benign	Het
Ifng	G	A	10: 118,281,159 (GRCm39)	R154H	probably damaging	Het
Il1r1	G	A	1: 40,352,392 (GRCm39)	E521K	possibly damaging	Het
Irf3	G	T	7: 44,648,163 (GRCm39)	L9F	probably damaging	Het
Jade1	T	G	3: 41,568,374 (GRCm39)	I814S	probably benign	Het
Kcnh1	G	A	1: 192,019,851 (GRCm39)	W365*	probably null	Het
Kif16b	T	C	2: 142,514,280 (GRCm39)	T1209A	possibly damaging	Het
Mcur1	A	T	13: 43,695,203 (GRCm39)	S324T	probably damaging	Het
Mgat2	C	A	12: 69,231,558 (GRCm39)	A44E	probably benign	Het
Nox1	A	G	X: 133,008,583 (GRCm39)		probably benign	Het
Oga	A	T	19: 45,753,940 (GRCm39)	W645R	probably damaging	Het
Or52ae7	A	T	7: 103,119,590 (GRCm39)	I115F	probably benign	Het
Or5ak23	A	G	2: 85,244,537 (GRCm39)	S229P	probably benign	Het
Pcnt	A	T	10: 76,265,090 (GRCm39)	I340N	probably damaging	Het
Pde11a	T	C	2: 75,877,189 (GRCm39)	E760G	possibly damaging	Het
Per3	C	T	4: 151,102,674 (GRCm39)		probably null	Het
Rabep1	G	A	11: 70,808,306 (GRCm39)	A421T	probably benign	Het
Rint1	C	T	5: 23,999,450 (GRCm39)	Q80*	probably null	Het
Rnaset2b	G	A	17: 7,248,568 (GRCm39)		probably null	Het
Sccpdh	T	C	1: 179,508,070 (GRCm39)	Y237H	probably benign	Het
Scn10a	T	A	9: 119,520,628 (GRCm39)	T91S	probably damaging	Het
Spock1	A	G	13: 57,592,245 (GRCm39)		probably benign	Het
Stat1	A	G	1: 52,182,125 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,118,203 (GRCm39)	E2212G	probably damaging	Het
Taok1	T	A	11: 77,440,103 (GRCm39)	R635W	probably benign	Het
Vmn1r39	A	G	6: 66,781,946 (GRCm39)	I124T	probably benign	Het
Vmn2r32	T	C	7: 7,477,283 (GRCm39)	I369M	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
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
R3617:Ascc3	UTSW	10	50,494,281 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16