Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Ascc3'

571117

Institutional Source

Beutler Lab

Gene Symbol

Ascc3

Ensembl Gene

ENSMUSG00000038774

Gene Name

activating signal cointegrator 1 complex subunit 3

Synonyms

B630009I04Rik, ASC1p200, Helic1

MMRRC Submission

045444-MU

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 50714352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1055 (Y1055*)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

AlphaFold

E9PZJ8

Predicted Effect

probably null
Transcript: ENSMUST00000035606
AA Change: Y1055*

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: Y1055*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,292,013	L1721S	possibly damaging	Het
Abca17	T	A	17: 24,291,555	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,380,979	D9V	probably benign	Het
Ankrd13c	T	A	3: 157,991,737	Y326*	probably null	Het
Ano2	A	G	6: 125,710,733	D67G	probably benign	Het
Arhgef5	G	A	6: 43,279,573	R1205H	probably damaging	Het
Atad5	C	T	11: 80,133,036	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 90,883,807	D252G	probably damaging	Het
BC067074	A	G	13: 113,319,967	D849G		Het
Bdkrb2	T	C	12: 105,592,541	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,255,995	L1194Q	probably damaging	Het
Chd9	A	C	8: 90,983,487	D770A	unknown	Het
Chd9	A	G	8: 91,034,218	D2197G	unknown	Het
Clip2	C	A	5: 134,502,630	E774*	probably null	Het
Clspn	A	G	4: 126,566,200	T407A	probably benign	Het
Col24a1	T	A	3: 145,293,165		probably null	Het
Cradd	T	A	10: 95,322,775	T37S	probably damaging	Het
Ctbp2	A	G	7: 132,998,881	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,746,565	E6D	probably damaging	Het
Dst	T	A	1: 34,191,673	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479		probably null	Het
Eif2s1	G	T	12: 78,881,195	G215V	probably damaging	Het
Epg5	A	T	18: 77,959,037	D557V	possibly damaging	Het
Eya4	C	T	10: 23,123,851		probably null	Het
Fam192a	T	C	8: 94,575,699	N235D	possibly damaging	Het
Fpr1	C	A	17: 17,876,980	R249L	probably damaging	Het
Fry	A	G	5: 150,416,323	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,690,461		probably null	Het
Gemin4	A	C	11: 76,213,452	L161*	probably null	Het
Gid8	A	T	2: 180,717,986	K221I	probably benign	Het
Gm21028	A	C	7: 42,578,489	C34G	probably damaging	Het
Gm4737	T	C	16: 46,153,838	E392G	probably damaging	Het
Greb1	A	G	12: 16,724,881	S172P	probably damaging	Het
Herc2	A	G	7: 56,182,675	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,416,812	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,323,141	G229*	probably null	Het
Igfn1	A	T	1: 135,964,000	V2259D	probably damaging	Het
Ism2	A	G	12: 87,280,040	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,926,110	D357V	probably damaging	Het
Knl1	A	G	2: 119,070,559	R914G	possibly damaging	Het
Mars2	T	C	1: 55,237,570	S111P	probably damaging	Het
Mogat2	G	A	7: 99,232,466	P88S	possibly damaging	Het
Msh2	T	A	17: 87,717,529	S612T	possibly damaging	Het
Nvl	A	G	1: 181,135,036	L123P	probably damaging	Het
Olfr1029	T	A	2: 85,975,436	S64R	possibly damaging	Het
Olfr352	T	C	2: 36,869,878	V104A	probably benign	Het
Olfr621-ps1	A	G	7: 103,629,183	L259P	unknown	Het
Olfr709-ps1	A	T	7: 106,926,904	L185Q	probably damaging	Het
Olfr771	T	A	10: 129,160,070	I305F	probably benign	Het
Olfr868	A	T	9: 20,100,873	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,666,142		probably null	Het
Pard3	A	T	8: 127,593,092	I1149L	probably damaging	Het
Pcdha8	T	A	18: 36,992,777	I104N	probably damaging	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pgap2	A	T	7: 102,210,567		probably benign	Het
Phf7	T	C	14: 31,241,788	R76G	probably benign	Het
Pigu	T	C	2: 155,299,170	T268A	probably damaging	Het
Piwil4	T	C	9: 14,729,993	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,945,202	E636A		Het
Plscr3	T	C	11: 69,847,490	S55P	unknown	Het
Pnlip	T	A	19: 58,676,544	I268N	probably damaging	Het
Podxl	A	T	6: 31,524,994	H343Q	probably benign	Het
Prkcd	T	C	14: 30,605,836	T213A	probably benign	Het
Prss22	T	A	17: 23,996,445	Q119L	probably benign	Het
Ptprcap	A	G	19: 4,156,239	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Rasa4	A	G	5: 136,095,594	T166A	probably benign	Het
Sbf2	T	C	7: 110,399,348	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,682,506	Y203*	probably null	Het
Serpinb1a	G	C	13: 32,842,998	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,829,921	T464I	probably benign	Het
Slc47a2	G	A	11: 61,308,873	A399V	possibly damaging	Het
Smim4	A	G	14: 31,124,603	V53A	probably damaging	Het
Snrnp200	A	G	2: 127,221,826	T642A	probably benign	Het
Spag16	A	G	1: 69,844,367	H85R	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Stag3	C	A	5: 138,301,508	L894M	probably damaging	Het
Sun2	A	T	15: 79,734,112	F284Y	probably benign	Het
Tpx2	T	A	2: 152,876,630	N184K	probably benign	Het
Trpa1	A	T	1: 14,898,110	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,790,310	R157H	probably damaging	Het
Ttn	C	T	2: 76,707,305	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,696,648	S360P	probably damaging	Het
Usp34	T	A	11: 23,361,683	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,624,260	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,633,171	C73*	probably null	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141	E214G	unknown	Het
Zmym5	T	A	14: 56,794,140	K504*	probably null	Het

Other mutations in Ascc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ascc3	APN	10	50714435	missense	probably damaging	0.99
IGL00690:Ascc3	APN	10	50699943	nonsense	probably null
IGL00897:Ascc3	APN	10	50728091	missense	probably benign	0.01
IGL01077:Ascc3	APN	10	50649317	splice site	probably benign
IGL01124:Ascc3	APN	10	50732473	missense	probably damaging	1.00
IGL01555:Ascc3	APN	10	50750522	missense	probably damaging	1.00
IGL02019:Ascc3	APN	10	50690139	missense	probably damaging	1.00
IGL02161:Ascc3	APN	10	50850527	nonsense	probably null
IGL02247:Ascc3	APN	10	50650590	missense	probably damaging	1.00
IGL02318:Ascc3	APN	10	50728154	nonsense	probably null
IGL02428:Ascc3	APN	10	50845695	nonsense	probably null
IGL02432:Ascc3	APN	10	50700493	missense	probably damaging	0.99
IGL02449:Ascc3	APN	10	50700599	missense	probably benign	0.00
IGL02640:Ascc3	APN	10	50767374	missense	possibly damaging	0.69
IGL02673:Ascc3	APN	10	50660673	missense	probably benign	0.01
IGL03144:Ascc3	APN	10	50767443	missense	probably benign	0.16
IGL03161:Ascc3	APN	10	50618072	missense	probably damaging	0.98
IGL03218:Ascc3	APN	10	50823853	missense	possibly damaging	0.89
algorithm	UTSW	10	50718376	missense	probably damaging	0.97
heuristic	UTSW	10	50842193	missense	probably damaging	0.99
network	UTSW	10	50754079	missense	possibly damaging	0.53
R0045:Ascc3	UTSW	10	50718402	nonsense	probably null
R0045:Ascc3	UTSW	10	50718402	nonsense	probably null
R0131:Ascc3	UTSW	10	50735329	missense	probably damaging	0.99
R0131:Ascc3	UTSW	10	50735329	missense	probably damaging	0.99
R0132:Ascc3	UTSW	10	50735329	missense	probably damaging	0.99
R0149:Ascc3	UTSW	10	50607993	missense	probably benign	0.31
R0165:Ascc3	UTSW	10	50842127	splice site	probably null
R0255:Ascc3	UTSW	10	50645058	missense	probably benign	0.00
R0310:Ascc3	UTSW	10	50748926	missense	probably benign	0.02
R0314:Ascc3	UTSW	10	50637999	missense	possibly damaging	0.92
R0362:Ascc3	UTSW	10	50748955	splice site	probably benign
R0418:Ascc3	UTSW	10	50748926	missense	probably benign	0.02
R0419:Ascc3	UTSW	10	50748926	missense	probably benign	0.02
R0421:Ascc3	UTSW	10	50748926	missense	probably benign	0.02
R0480:Ascc3	UTSW	10	50735252	missense	probably damaging	1.00
R0744:Ascc3	UTSW	10	50845666	missense	probably benign	0.17
R0833:Ascc3	UTSW	10	50845666	missense	probably benign	0.17
R1231:Ascc3	UTSW	10	50823660	missense	probably damaging	1.00
R1264:Ascc3	UTSW	10	50642519	splice site	probably benign
R1302:Ascc3	UTSW	10	50604794	start codon destroyed	probably null	1.00
R1751:Ascc3	UTSW	10	50718376	missense	probably damaging	0.97
R1767:Ascc3	UTSW	10	50718376	missense	probably damaging	0.97
R1769:Ascc3	UTSW	10	50700490	missense	probably damaging	1.00
R1840:Ascc3	UTSW	10	50690161	missense	probably benign	0.00
R1855:Ascc3	UTSW	10	50617922	missense	probably benign	0.01
R1953:Ascc3	UTSW	10	50845630	missense	probably benign
R1976:Ascc3	UTSW	10	50649166	missense	probably damaging	1.00
R2004:Ascc3	UTSW	10	50617742	missense	probably damaging	1.00
R2013:Ascc3	UTSW	10	50649812	missense	probably damaging	0.99
R2017:Ascc3	UTSW	10	50690211	missense	probably benign	0.00
R2040:Ascc3	UTSW	10	50728131	missense	probably benign
R2043:Ascc3	UTSW	10	50700520	missense	probably damaging	1.00
R2165:Ascc3	UTSW	10	50721839	missense	probably damaging	1.00
R2226:Ascc3	UTSW	10	50754052	missense	probably benign	0.07
R2310:Ascc3	UTSW	10	50748892	missense	probably benign	0.15
R2405:Ascc3	UTSW	10	50731678	missense	probably damaging	1.00
R2424:Ascc3	UTSW	10	50618201	missense	probably benign	0.14
R3410:Ascc3	UTSW	10	50700100	missense	probably damaging	1.00
R3617:Ascc3	UTSW	10	50618185	missense	probably benign	0.00
R3771:Ascc3	UTSW	10	50720718	splice site	probably benign
R3783:Ascc3	UTSW	10	50728254	missense	probably damaging	1.00
R3891:Ascc3	UTSW	10	50842193	missense	probably damaging	0.99
R3892:Ascc3	UTSW	10	50842193	missense	probably damaging	0.99
R4435:Ascc3	UTSW	10	50721885	missense	probably benign	0.14
R4509:Ascc3	UTSW	10	50842243	missense	probably benign	0.00
R4520:Ascc3	UTSW	10	50660670	missense	probably benign
R4521:Ascc3	UTSW	10	50660670	missense	probably benign
R4522:Ascc3	UTSW	10	50660670	missense	probably benign
R4524:Ascc3	UTSW	10	50660670	missense	probably benign
R4581:Ascc3	UTSW	10	50711025	missense	probably damaging	1.00
R4701:Ascc3	UTSW	10	50720664	missense	possibly damaging	0.66
R4704:Ascc3	UTSW	10	50659014	missense	probably benign	0.02
R4768:Ascc3	UTSW	10	50700499	missense	probably damaging	1.00
R4823:Ascc3	UTSW	10	50713233	missense	probably damaging	1.00
R4906:Ascc3	UTSW	10	50749131	missense	probably damaging	1.00
R4937:Ascc3	UTSW	10	50823798	missense	probably damaging	1.00
R5001:Ascc3	UTSW	10	50823648	missense	probably damaging	1.00
R5151:Ascc3	UTSW	10	50637963	missense	probably damaging	0.99
R5263:Ascc3	UTSW	10	50716661	missense	probably benign	0.00
R5302:Ascc3	UTSW	10	50707777	missense	probably benign	0.09
R5436:Ascc3	UTSW	10	50658983	missense	probably damaging	0.99
R5455:Ascc3	UTSW	10	50849583	missense	probably benign	0.06
R5474:Ascc3	UTSW	10	50849538	missense	probably benign	0.25
R5744:Ascc3	UTSW	10	50710881	missense	probably benign
R5781:Ascc3	UTSW	10	50637978	missense	probably damaging	1.00
R5850:Ascc3	UTSW	10	50710953	missense	probably damaging	1.00
R5867:Ascc3	UTSW	10	50842183	nonsense	probably null
R5868:Ascc3	UTSW	10	50842183	nonsense	probably null
R5869:Ascc3	UTSW	10	50842183	nonsense	probably null
R6031:Ascc3	UTSW	10	50842183	nonsense	probably null
R6031:Ascc3	UTSW	10	50842183	nonsense	probably null
R6032:Ascc3	UTSW	10	50842183	nonsense	probably null
R6032:Ascc3	UTSW	10	50842183	nonsense	probably null
R6109:Ascc3	UTSW	10	50649247	missense	probably benign	0.37
R6122:Ascc3	UTSW	10	50617925	missense	probably benign
R6128:Ascc3	UTSW	10	50650638	missense	probably damaging	1.00
R6351:Ascc3	UTSW	10	50720673	missense	probably damaging	0.99
R6368:Ascc3	UTSW	10	50699985	missense	probably damaging	1.00
R6369:Ascc3	UTSW	10	50699985	missense	probably damaging	1.00
R6409:Ascc3	UTSW	10	50845580	missense	probably benign	0.09
R6472:Ascc3	UTSW	10	50720687	missense	probably benign	0.03
R6474:Ascc3	UTSW	10	50748836	missense	probably benign	0.01
R6480:Ascc3	UTSW	10	50710953	missense	probably damaging	1.00
R6553:Ascc3	UTSW	10	50842177	missense	probably benign	0.05
R6572:Ascc3	UTSW	10	50690247	nonsense	probably null
R6585:Ascc3	UTSW	10	50842177	missense	probably benign	0.05
R6656:Ascc3	UTSW	10	50649925	nonsense	probably null
R6669:Ascc3	UTSW	10	50840373	missense	probably benign
R6675:Ascc3	UTSW	10	50750563	nonsense	probably null
R6790:Ascc3	UTSW	10	50645712	missense	probably damaging	1.00
R6856:Ascc3	UTSW	10	50749062	missense	probably damaging	1.00
R6862:Ascc3	UTSW	10	50849646	missense	probably null	0.51
R6919:Ascc3	UTSW	10	50645753	nonsense	probably null
R6936:Ascc3	UTSW	10	50729961	missense	probably damaging	0.98
R6953:Ascc3	UTSW	10	50645666	missense	probably benign	0.00
R6957:Ascc3	UTSW	10	50728182	missense	probably damaging	1.00
R7022:Ascc3	UTSW	10	50716629	missense	possibly damaging	0.55
R7050:Ascc3	UTSW	10	50840350	missense	probably benign	0.43
R7479:Ascc3	UTSW	10	50649799	missense	probably damaging	1.00
R7538:Ascc3	UTSW	10	50845700	missense	probably damaging	1.00
R7838:Ascc3	UTSW	10	50728297	missense	probably benign	0.04
R8021:Ascc3	UTSW	10	50731648	missense	probably benign	0.02
R8134:Ascc3	UTSW	10	50767458	missense	probably benign	0.02
R8252:Ascc3	UTSW	10	50642610	missense	probably benign
R8348:Ascc3	UTSW	10	50618077	missense	probably benign
R8351:Ascc3	UTSW	10	50849597	missense	probably benign
R8356:Ascc3	UTSW	10	50649907	missense	probably benign	0.38
R8362:Ascc3	UTSW	10	50642596	missense	possibly damaging	0.93
R8395:Ascc3	UTSW	10	50649304	missense	possibly damaging	0.93
R8448:Ascc3	UTSW	10	50618077	missense	probably benign
R8957:Ascc3	UTSW	10	50700112	missense	probably damaging	1.00
R9004:Ascc3	UTSW	10	50842180	missense	probably benign
R9133:Ascc3	UTSW	10	50754079	missense	possibly damaging	0.53
R9200:Ascc3	UTSW	10	50645691	missense	possibly damaging	0.55
R9328:Ascc3	UTSW	10	50658919	missense	probably damaging	1.00
R9377:Ascc3	UTSW	10	50732762	missense	possibly damaging	0.62
R9412:Ascc3	UTSW	10	50649134	missense	probably benign	0.00
R9576:Ascc3	UTSW	10	50618158	missense	possibly damaging	0.71
R9796:Ascc3	UTSW	10	50732705	nonsense	probably null
X0021:Ascc3	UTSW	10	50700590	missense	possibly damaging	0.88
X0025:Ascc3	UTSW	10	50650596	missense	probably benign	0.00
X0026:Ascc3	UTSW	10	50732478	missense	probably damaging	1.00
Z1177:Ascc3	UTSW	10	50718421	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATCAACTGAAGGATGATAAGGTC -3'
(R):5'- CTGGCAGCATTCTCAGTGTG -3'

Sequencing Primer
(F):5'- TTTACAACTACCTGTGTGCAAAG -3'
(R):5'- CAGCATTCTCAGTGTGACATG -3'

Posted On

2019-09-13