Mutagenetix > Incidental Mutations

Incidental Mutation 'R6128:Ascc3'

487522

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

044275-MU

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50650638 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 611 (L611P)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035606
AA Change: L611P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: L611P

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: ENSMUST00000217968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220026

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
4931408C20Rik	G	A	1: 26,685,425	P225S	probably benign	Het
A430033K04Rik	A	G	5: 138,647,776	H641R	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
AI464131	T	A	4: 41,498,445	N395I	probably damaging	Het
Asah1	C	T	8: 41,354,055	V111M	probably damaging	Het
Atl2	C	A	17: 79,865,041		probably null	Het
Bhlhe22	A	T	3: 18,055,823	S346C	probably damaging	Het
Bicc1	T	C	10: 70,940,483		probably null	Het
Bptf	G	T	11: 107,074,690	A1163D	possibly damaging	Het
Bub1b	T	A	2: 118,617,812	C382S	probably benign	Het
Carmil1	A	T	13: 24,013,194	Y158*	probably null	Het
Ccdc175	A	T	12: 72,129,159	I473K	probably benign	Het
Ccdc18	A	G	5: 108,163,759	I444V	possibly damaging	Het
Cep131	T	A	11: 120,065,975	I880F	probably damaging	Het
Ces2e	T	A	8: 104,928,796	I117N	probably benign	Het
Clk2	C	T	3: 89,174,224	T289M	probably damaging	Het
Crocc2	A	T	1: 93,194,401	D672V	probably benign	Het
Cul7	T	A	17: 46,651,662	I73N	probably damaging	Het
Cyp2d12	C	A	15: 82,558,965	D358E	probably benign	Het
Cyp7a1	A	G	4: 6,272,788	S142P	possibly damaging	Het
Daw1	T	A	1: 83,205,926	C232*	probably null	Het
Dhx9	T	C	1: 153,478,089	K195R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dpp3	A	G	19: 4,922,392	V168A	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ercc6l2	T	C	13: 63,853,749	V459A	probably damaging	Het
Erp44	A	T	4: 48,243,493	N38K	probably damaging	Het
Fam135a	A	G	1: 24,030,740		probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fdps	T	C	3: 89,099,433	E117G	possibly damaging	Het
Gbp4	A	C	5: 105,135,164	V80G	possibly damaging	Het
Glt1d1	A	T	5: 127,677,271	D179V	probably damaging	Het
Gtf2a1l	T	A	17: 88,694,658	V314E	probably null	Het
Gzmf	G	T	14: 56,205,986	Y178*	probably null	Het
Hira	C	T	16: 18,932,977	P509S	probably benign	Het
Ifi44	T	C	3: 151,749,186	N134S	probably benign	Het
Igfbp2	T	A	1: 72,824,799	C74S	probably damaging	Het
Il24	A	G	1: 130,885,698	L54P	probably damaging	Het
Ints10	T	C	8: 68,822,252		probably null	Het
Ipo9	A	G	1: 135,390,573	C700R	possibly damaging	Het
Kalrn	T	A	16: 34,212,885	Q469L	probably damaging	Het
Lrp1b	T	G	2: 40,860,655	I2966L	probably benign	Het
Lta	C	A	17: 35,203,841	V169L	possibly damaging	Het
Lyst	T	C	13: 13,759,379	V3554A	possibly damaging	Het
Mobp	A	G	9: 120,168,326		probably benign	Het
Olfr32	A	T	2: 90,138,610	C176*	probably null	Het
Olfr892-ps1	T	C	9: 38,190,003	S93P	probably benign	Het
Olfr959	C	G	9: 39,573,253	R2T	probably benign	Het
Pacs1	A	T	19: 5,152,372		probably null	Het
Phf21a	G	T	2: 92,351,608		probably null	Het
Pick1	T	A	15: 79,239,696	M89K	probably damaging	Het
Pik3cb	T	C	9: 99,064,099	D558G	possibly damaging	Het
Pnmal1	A	G	7: 16,960,736	D172G	probably benign	Het
Polr2a	A	C	11: 69,736,977	V1368G	probably damaging	Het
Pomt2	A	G	12: 87,111,335		probably null	Het
Pou2f1	T	C	1: 165,875,487		probably benign	Het
Rnf145	T	C	11: 44,555,191	V284A	probably damaging	Het
Robo1	A	T	16: 73,013,068	M1235L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr3	C	T	2: 112,954,294		probably null	Het
Scamp1	A	C	13: 94,208,227	L202R	possibly damaging	Het
Snx25	C	T	8: 46,105,203	V110I	probably benign	Het
Susd6	T	A	12: 80,868,614	H124Q	possibly damaging	Het
Tarm1	T	C	7: 3,489,204	T248A	probably benign	Het
Tc2n	A	G	12: 101,709,489	M1T	probably null	Het
Tcerg1	C	A	18: 42,511,498		probably null	Het
Ticrr	C	A	7: 79,693,968	P1194T	probably damaging	Het
Trim31	T	G	17: 36,909,599	V469G	probably benign	Het
Vcp	T	C	4: 42,980,941	E723G	probably benign	Het
Vmn1r177	C	A	7: 23,865,842	S203I	probably damaging	Het
Vmn1r177	T	A	7: 23,865,843	S203C	probably damaging	Het
Vmn1r210	A	T	13: 22,828,107	L3*	probably null	Het
Wdr27	T	A	17: 14,932,534	R104*	probably null	Het
Wnk1	A	C	6: 119,963,786		probably null	Het
Zfp157	A	G	5: 138,455,019	E88G	possibly damaging	Het
Zfp708	A	T	13: 67,074,901	L22Q	probably damaging	Het
Zfp788	T	C	7: 41,650,361	F787S	probably 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
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
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'- GAGGTGGTTTGATAAATACATTCGG -3'
(R):5'- CAGAAAAGGCGGGGTATCTC -3'

Sequencing Primer
(F):5'- ATGTAGTGTCTTTGCTATTTCC -3'
(R):5'- AGGCGGGGTATCTCTAAGG -3'

Posted On

2017-10-10