Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Ascc3'

194711

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

039800-MU

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50700490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 847 (V847A)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

AlphaFold

E9PZJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035606
AA Change: V847A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: V847A

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: ENSMUST00000217818

Meta Mutation Damage Score

0.6330

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,591,821		probably benign	Het
A430033K04Rik	A	G	5: 138,646,257	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468		probably benign	Het
Akap3	A	G	6: 126,865,846	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,918,740	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Best3	A	G	10: 117,023,978	N381S	probably benign	Het
Blm	A	T	7: 80,513,370	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111	M165V	probably benign	Het
Cd4	A	T	6: 124,866,655	M431K	possibly damaging	Het
Cdh7	C	T	1: 110,052,876	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263		probably null	Het
Clcn6	A	T	4: 148,014,301		probably null	Het
Csf3	A	G	11: 98,702,420	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109		probably benign	Het
Cyp2c69	A	G	19: 39,876,371	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251		probably benign	Het
Dhcr7	T	C	7: 143,847,513	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991	L183Q	probably damaging	Het
Elmsan1	G	A	12: 84,158,350		probably benign	Het
Evx2	A	G	2: 74,659,157	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983	K196I	probably benign	Het
Fbln7	C	T	2: 128,893,762		probably benign	Het
Fhdc1	A	G	3: 84,448,778	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706		probably null	Het
Kdm4c	A	G	4: 74,280,997	S141G	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klra3	T	C	6: 130,330,263		probably null	Het
Lama2	A	T	10: 27,208,406	S923T	probably damaging	Het
Lama2	G	C	10: 27,208,407	F922L	probably benign	Het
Llgl1	G	A	11: 60,707,047	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487		probably benign	Het
Mbd2	A	G	18: 70,616,619	I302V	probably benign	Het
Med27	A	G	2: 29,500,295	Y78C	probably damaging	Het
Mei1	C	T	15: 82,112,570		probably null	Het
Miga1	T	C	3: 152,287,554	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256		probably benign	Het
Ngf	T	A	3: 102,520,197	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708		probably benign	Het
Nrip2	A	G	6: 128,408,268	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431	G777D	probably damaging	Het
Olfr1446	A	G	19: 12,889,683	V298A	probably damaging	Het
Olfr199	A	G	16: 59,215,981	F211L	probably benign	Het
Olfr802	T	A	10: 129,682,212	T176S	probably benign	Het
Olfr855	A	T	9: 19,585,386	Q283L	probably damaging	Het
Olfr974	G	T	9: 39,942,955	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pkp2	T	C	16: 16,262,697	S616P	probably damaging	Het
Plch2	T	C	4: 155,000,083	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159	N540D	probably benign	Het
Ptpn23	G	A	9: 110,391,678	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,972,307	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768		probably null	Het
Sgk1	C	A	10: 21,997,108		probably benign	Het
Slc1a5	G	T	7: 16,797,539	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,919,464	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,919,466	Y478*	probably null	Het
Slc9a3	A	T	13: 74,163,071	M562L	probably benign	Het
Thsd7a	G	A	6: 12,555,715	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844	P797T	probably benign	Het
Zan	T	A	5: 137,464,518	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619		probably benign	Het
Zufsp	T	C	10: 33,935,176	M291V	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
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
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
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'- GATTTGTGTCTGTCAAAGCAAGCTCC -3'
(R):5'- TGCAAGACTTTCCAGAAACTGACTCTC -3'

Sequencing Primer
(F):5'- GTCAAAGCAAGCTCCTGAATTG -3'
(R):5'- CAATTGGGTTTTGTTGAGTGAGC -3'

Posted On

2014-05-23