Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02318:Ascc3'

288106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ascc3

Ensembl Gene

ENSMUSG00000038774

Gene Name

activating signal cointegrator 1 complex subunit 3

Synonyms

B630009I04Rik, ASC1p200, Helic1

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 50728154 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1323 (Y1323*)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000035606
AA Change: Y1323*

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: Y1323*

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: ENSMUST00000219085

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799		probably null	Het
Abhd18	G	A	3: 40,930,227		probably null	Het
Akr1c6	G	T	13: 4,438,497	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331	T1136A	probably benign	Het
Bsx	A	C	9: 40,874,221	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478		probably null	Het
Cpne9	A	G	6: 113,293,738	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238		probably null	Het
Inpp4a	T	C	1: 37,368,303	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066		probably benign	Het
Luc7l3	C	T	11: 94,292,993	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741	I219S	probably benign	Het
Myo9b	G	A	8: 71,354,124	E1581K	probably damaging	Het
Nfs1	T	A	2: 156,124,271	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918		probably null	Het
Nxf1	G	A	19: 8,764,150		probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323		probably benign	Het
Sall2	T	C	14: 52,315,565	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,073,239	A281T	probably damaging	Het
Spta1	A	G	1: 174,174,463	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836	V716A	probably benign	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
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
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	intron	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
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

Posted On

2015-04-16