Mutagenetix > Incidental Mutations

Incidental Mutation 'R2017:Ascc3'

223231

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

040026-MU

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2017 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50690211 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 751 (P751S)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035606
AA Change: P751S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: P751S

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 165,079,026	D29G	unknown	Het
Abca13	A	T	11: 9,290,619	L827F	probably damaging	Het
Abcc1	T	A	16: 14,461,204	V1126E	probably damaging	Het
Abcc12	A	G	8: 86,563,988	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,732,806	T643A	probably benign	Het
Angpt2	T	C	8: 18,705,731	N240S	probably damaging	Het
Apc	A	G	18: 34,313,602	T1150A	probably benign	Het
Apob	G	A	12: 8,007,751	D2078N	possibly damaging	Het
Apool	T	A	X: 112,364,561	S234T	probably benign	Het
Astn2	G	A	4: 65,540,941	T1079I	probably damaging	Het
Atp8b1	T	C	18: 64,540,334	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,836,621	D189G	probably damaging	Het
Bcas1	A	C	2: 170,348,161		probably null	Het
Btk	T	C	X: 134,547,601	D355G	probably benign	Het
C2cd4c	A	G	10: 79,612,989	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,517,807	L264P	probably damaging	Het
Cd22	A	T	7: 30,872,780	L423Q	probably damaging	Het
Cep128	T	C	12: 91,366,464	D9G	probably damaging	Het
Cer1	A	T	4: 82,882,883	V181D	probably damaging	Het
Ciita	T	C	16: 10,511,676	L584P	probably damaging	Het
Cmss1	T	C	16: 57,316,278	D77G	probably damaging	Het
Col4a2	T	C	8: 11,445,086	F1515L	probably benign	Het
Dcaf1	A	G	9: 106,847,923	E536G	probably damaging	Het
Dcaf1	T	A	9: 106,839,088	D360E	probably benign	Het
Dnah2	T	A	11: 69,437,070	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,266,196	V119A	possibly damaging	Het
Edn3	A	G	2: 174,778,662	E103G	probably benign	Het
Efemp1	G	T	11: 28,921,613	R376L	probably damaging	Het
Eid1	A	G	2: 125,673,201	M4V	probably benign	Het
Emilin3	G	A	2: 160,909,610	R170C	possibly damaging	Het
Epx	T	C	11: 87,874,337	D178G	probably damaging	Het
Fam208b	A	T	13: 3,576,770	I1060K	probably benign	Het
Fam49a	T	A	12: 12,362,361	V208D	probably damaging	Het
Fkbp10	G	A	11: 100,421,673	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,797		probably null	Het
Fsip2	A	G	2: 82,982,732	K3132E	possibly damaging	Het
Gla	C	T	X: 134,596,322	A39T	probably damaging	Het
H2-Ke6	A	T	17: 34,026,213	M259K	probably damaging	Het
Hivep2	C	T	10: 14,130,757	T1033M	probably damaging	Het
Ikzf4	C	T	10: 128,634,157	G498D	probably damaging	Het
Impg1	T	C	9: 80,440,667	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,111,753	K136*	probably null	Het
Iqsec1	A	C	6: 90,689,930	H508Q	probably benign	Het
Itgb3	A	G	11: 104,637,962	H305R	possibly damaging	Het
Jup	T	A	11: 100,386,341	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Klf12	T	C	14: 100,022,637	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,107,793	V377L	probably benign	Het
Large1	A	G	8: 72,852,197	F460S	probably damaging	Het
Loxl3	A	T	6: 83,048,977	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,501,125	Y1158F	probably benign	Het
Map2	T	A	1: 66,412,799	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,391,034		probably null	Het
Med26	A	G	8: 72,496,947	S103P	probably damaging	Het
Muc4	T	C	16: 32,751,303	S394P	possibly damaging	Het
Nle1	G	T	11: 82,905,547	P166Q	probably damaging	Het
Obox5	T	C	7: 15,758,882	I254T	probably benign	Het
Olfr1288	G	T	2: 111,479,187	M134I	probably benign	Het
Olfr371	T	C	8: 85,230,744	L83P	possibly damaging	Het
Olfr406	T	A	11: 74,270,333	W315R	probably benign	Het
Olfr592	T	C	7: 103,186,930	F110L	probably benign	Het
Pacs2	A	T	12: 113,062,457	N545Y	probably damaging	Het
Palld	T	C	8: 61,684,765	E652G	probably damaging	Het
Pgm5	T	C	19: 24,824,312	N184S	probably benign	Het
Pitpnm1	T	C	19: 4,111,873	V955A	probably benign	Het
Plcb1	T	A	2: 135,362,420	I898N	possibly damaging	Het
Pramef12	A	G	4: 144,394,674	V260A	possibly damaging	Het
Prr36	T	A	8: 4,215,205	T182S	probably benign	Het
Prss35	A	G	9: 86,755,512	S112G	probably benign	Het
Ptprj	C	T	2: 90,464,614	V417M	probably damaging	Het
Ptprm	G	T	17: 66,957,153		probably null	Het
Rasgrp2	T	C	19: 6,413,165	V498A	probably benign	Het
Rfx6	A	G	10: 51,721,604	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,210,471	I693T	probably damaging	Het
Scn9a	T	C	2: 66,515,321	T1143A	probably damaging	Het
Spata17	A	G	1: 187,048,453	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568	L2406P	probably benign	Het
Tgfb2	A	T	1: 186,630,765	Y287*	probably null	Het
Trip11	A	T	12: 101,885,360	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,449,015	V854L	probably benign	Het
Ttc30a1	A	G	2: 75,981,457	L94P	probably benign	Het
Vmn1r78	T	C	7: 12,153,343	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,446,713	K678R	probably benign	Het
Yeats2	T	A	16: 20,159,181	N138K	probably benign	Het
Zufsp	A	T	10: 33,927,464	N541K	possibly damaging	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
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
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
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'- TGGTTTCCAGGCTGCTAGTAAG -3'
(R):5'- GTAAGCTGAATAAACCCTTTCCTC -3'

Sequencing Primer
(F):5'- CCAGGCTGCTAGTAAGTTTCATC -3'
(R):5'- GTTTCCATCATAGAAAGTGAAACTCC -3'

Posted On

2014-08-25