Mutagenetix > Incidental Mutation

Incidental Mutation 'R4520:Ascc3'

334185

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

041763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50468756-50727300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50536766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 700 (N700D)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

AlphaFold

E9PZJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000035606
AA Change: N700D

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

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: N700D

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,776,027 (GRCm39)	T1739A	probably damaging	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cel	C	T	2: 28,447,980 (GRCm39)	V349M	probably benign	Het
Cspp1	A	G	1: 10,204,452 (GRCm39)	T1127A	probably benign	Het
Cyp2b10	T	C	7: 25,610,982 (GRCm39)	V113A	probably benign	Het
Cyp2c50	A	G	19: 40,079,133 (GRCm39)	T159A	probably benign	Het
Degs1	T	C	1: 182,104,373 (GRCm39)	D304G	possibly damaging	Het
Esr2	G	A	12: 76,214,323 (GRCm39)	P43S	possibly damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Gm5444	A	G	13: 4,884,225 (GRCm39)		noncoding transcript	Het
Golga3	T	A	5: 110,351,617 (GRCm39)	L790*	probably null	Het
Gtpbp6	T	C	5: 110,255,725 (GRCm39)	T105A	probably benign	Het
Ido2	T	C	8: 25,066,194 (GRCm39)	E24G	probably damaging	Het
Ihh	T	A	1: 74,990,109 (GRCm39)	I89F	probably damaging	Het
Krt13	A	G	11: 100,010,174 (GRCm39)	M269T	probably damaging	Het
Marf1	T	C	16: 13,950,530 (GRCm39)	H952R	probably damaging	Het
Mga	T	A	2: 119,778,579 (GRCm39)	F2041L	possibly damaging	Het
Msmo1	A	C	8: 65,173,557 (GRCm39)		probably benign	Het
Mterf1a	A	G	5: 3,940,992 (GRCm39)	V292A	probably damaging	Het
Naxe	A	G	3: 87,965,289 (GRCm39)		probably null	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Or51h5	A	T	7: 102,577,764 (GRCm39)	I310F	probably benign	Het
Or56b1	T	A	7: 104,285,376 (GRCm39)	V165E	probably damaging	Het
Or8h7	T	C	2: 86,721,363 (GRCm39)	D52G	probably benign	Het
Otog	T	A	7: 45,890,477 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,301 (GRCm39)	H880Q	probably benign	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Pole	T	A	5: 110,445,790 (GRCm39)	D555E	probably damaging	Het
Prkag2	A	G	5: 25,071,169 (GRCm39)	V403A	probably damaging	Het
Psg28	T	A	7: 18,156,826 (GRCm39)	M470L	probably benign	Het
Rpgrip1	A	G	14: 52,389,746 (GRCm39)	T1138A	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpinb9c	T	C	13: 33,335,840 (GRCm39)		probably null	Het
Sh2d6	T	C	6: 72,495,936 (GRCm39)	N101D	possibly damaging	Het
Shisa8	C	G	15: 82,096,163 (GRCm39)	V151L	possibly damaging	Het
Slc13a1	T	C	6: 24,134,512 (GRCm39)	T124A	probably benign	Het
Slc6a3	G	A	13: 73,688,975 (GRCm39)	V100M	possibly damaging	Het
Sspn	A	G	6: 145,907,033 (GRCm39)	T79A	probably benign	Het
Tlr8	C	T	X: 166,026,171 (GRCm39)	R893H	probably damaging	Het
Tnrc18	T	C	5: 142,717,905 (GRCm39)	K2183R	unknown	Het
Trim15	T	C	17: 37,177,242 (GRCm39)	I139M	probably benign	Het
Trmt13	A	T	3: 116,375,262 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,222,391 (GRCm39)	T610S	probably damaging	Het
Zcchc14	A	T	8: 122,335,834 (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
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
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'- TGACATAGGAACACAAATAGCCTG -3'
(R):5'- TCCCAGACCTGAACTGCTTAAC -3'

Sequencing Primer
(F):5'- CACAAATAGCCTGAAGAATGAGGTTC -3'
(R):5'- GACCTGAACTGCTTAACTTCCTAAC -3'

Posted On

2015-08-18