Mutagenetix > Incidental Mutations

Incidental Mutation 'R0421:Ascc3'

37076

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

038623-MU

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50748926 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1637 (V1637L)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035606
AA Change: V1637L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: V1637L

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: ENSMUST00000219172

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

97% (67/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,868,984	T131A	probably damaging	Het
Abi1	G	A	2: 22,960,827	T195I	probably damaging	Het
Afap1l1	T	C	18: 61,751,874	N180S	probably damaging	Het
Arsg	A	G	11: 109,527,766	Y196C	probably damaging	Het
Atp2b2	C	A	6: 113,813,888	R185L	probably damaging	Het
Ccr9	A	T	9: 123,779,606	M118L	probably benign	Het
Cdh12	A	T	15: 21,480,224		probably null	Het
Cdk13	T	C	13: 17,763,170	S763G	probably damaging	Het
Cenpk	C	A	13: 104,242,403	N177K	probably benign	Het
Cfap43	T	G	19: 47,835,575	N119T	probably benign	Het
Chrna6	T	C	8: 27,408,387	E101G	probably null	Het
Clasp2	G	A	9: 113,854,302	R400H	probably benign	Het
Col6a6	T	C	9: 105,784,206	M235V	probably benign	Het
Ddx49	A	T	8: 70,295,632	L291Q	probably damaging	Het
Dhrs7	A	T	12: 72,653,086		probably benign	Het
Dnah5	A	T	15: 28,229,541	K107M	possibly damaging	Het
Dsg2	C	T	18: 20,579,391	R151C	probably damaging	Het
Dsn1	T	C	2: 157,005,869	T2A	possibly damaging	Het
Edem3	A	G	1: 151,792,438		probably benign	Het
Eif3c	T	C	7: 126,563,712	N133S	possibly damaging	Het
F10	A	G	8: 13,045,097	K85E	probably benign	Het
Fam129a	T	A	1: 151,709,082		probably benign	Het
Fam57b	G	A	7: 126,825,015	V44M	probably damaging	Het
Fbn2	T	A	18: 58,027,804		probably benign	Het
Gtpbp10	A	T	5: 5,557,290	H50Q	probably benign	Het
Hephl1	A	G	9: 15,059,160	F1013L	probably benign	Het
Hps3	C	A	3: 20,029,316	V238F	probably benign	Het
Kcna10	A	C	3: 107,194,504	K150N	probably damaging	Het
Kirrel	C	T	3: 87,083,607	G636D	probably damaging	Het
Kndc1	G	A	7: 139,908,996	R189H	probably damaging	Het
Knop1	C	T	7: 118,855,629	E50K	possibly damaging	Het
Kpna7	T	A	5: 144,989,741	H467L	possibly damaging	Het
Lcn4	T	C	2: 26,668,649	N142D	possibly damaging	Het
Map3k3	T	C	11: 106,148,915		probably benign	Het
Mdn1	A	G	4: 32,684,707	T806A	probably benign	Het
Nbeal1	T	A	1: 60,268,439	N1703K	probably benign	Het
Neurl4	T	C	11: 69,908,534	V914A	probably damaging	Het
Nop56	T	C	2: 130,276,772	S275P	possibly damaging	Het
Olfr352	A	G	2: 36,869,641	E25G	possibly damaging	Het
Olfr655	A	G	7: 104,596,722	V153A	probably benign	Het
Olfr868	A	G	9: 20,101,475	K239E	probably damaging	Het
Otof	A	C	5: 30,371,568	I1827S	possibly damaging	Het
Pappa2	A	T	1: 158,848,080	I1032N	probably damaging	Het
Pcdh7	A	G	5: 57,720,060	E319G	probably damaging	Het
Pcdhb11	T	A	18: 37,422,480	S288T	probably benign	Het
Phip	A	T	9: 82,926,457	D488E	probably damaging	Het
Pla2g7	A	T	17: 43,611,412	H394L	probably damaging	Het
Plk3	A	G	4: 117,133,444	V69A	probably damaging	Het
Prob1	C	A	18: 35,653,030	A724S	possibly damaging	Het
Prune2	T	C	19: 17,123,311	F2060L	probably benign	Het
Rgl3	G	A	9: 21,976,032	R498C	probably benign	Het
Rnf213	A	C	11: 119,447,257	N3362H	probably damaging	Het
Sbds	A	G	5: 130,253,933		probably benign	Het
Scn9a	T	C	2: 66,543,277	S453G	probably benign	Het
Sh3rf3	T	C	10: 58,984,075	L236P	probably damaging	Het
Skint1	A	G	4: 112,019,014	N44S	possibly damaging	Het
Slc5a1	T	A	5: 33,134,652	I141N	probably damaging	Het
Trank1	T	A	9: 111,391,839	I2548N	probably damaging	Het
Tsc22d2	G	A	3: 58,417,328		probably benign	Het
Unc13c	T	A	9: 73,933,210	I120F	possibly damaging	Het
Vmn2r11	T	G	5: 109,059,428	I9L	probably benign	Het
Vmn2r58	T	G	7: 41,865,204	N114H	probably benign	Het
Vps53	A	G	11: 76,082,670	L166P	probably damaging	Het
Zfp119a	T	A	17: 55,865,248	K532*	probably null	Het
Zfp472	A	G	17: 32,975,923	T11A	possibly damaging	Het
Zfp512b	T	A	2: 181,588,258	K87*	probably null	Het
Zfp518b	G	A	5: 38,674,575	P29L	probably damaging	Het
Zfp599	A	G	9: 22,250,547		probably benign	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		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
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
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
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
R7358:Ascc3	UTSW	10	50714352	nonsense	probably null
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
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'- TGCGTCTTTGGAAGCATCTGCG -3'
(R):5'- ACCTGTGATGGGAAAATCCACATAACG -3'

Sequencing Primer
(F):5'- GCTTGCATTGCAGATGGACA -3'
(R):5'- GGGAAAATCCACATAACGTCTTGTC -3'

Posted On

2013-05-09