Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Ascc3'

485784

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

044269-MU

Accession Numbers

Ncbi RefSeq: NM_198007.2; MGI:1925237

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50592669-50851485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50617925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 152 (M152K)

Ref Sequence

ENSEMBL: ENSMUSP00000151273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035606] [ENSMUST00000219226] [ENSMUST00000220355]

AlphaFold

E9PZJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000035606
AA Change: M152K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: M152K

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

probably benign
Transcript: ENSMUST00000219226

Predicted Effect

probably benign
Transcript: ENSMUST00000220355
AA Change: M152K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0828

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,252	*301W	probably null	Het
Abat	A	G	16: 8,605,550	I236V	probably benign	Het
Abca8a	T	C	11: 110,070,423	T558A	probably benign	Het
Ace3	A	C	11: 105,994,938	M57L	probably benign	Het
Adgrg1	T	C	8: 95,002,501	S18P	probably benign	Het
Ahi1	A	G	10: 21,058,165	D60G	probably benign	Het
Ap4e1	T	A	2: 127,028,160		probably null	Het
Arnt2	C	A	7: 84,361,565	K34N	probably damaging	Het
AW551984	A	T	9: 39,593,755	F480L	probably benign	Het
Blvrb	G	A	7: 27,459,348	A58T	possibly damaging	Het
Bpifa1	C	T	2: 154,143,972	T69I	probably benign	Het
Cacna1g	T	A	11: 94,430,171	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,412	I361V	probably benign	Het
Clca4b	T	A	3: 144,926,166	I193F	possibly damaging	Het
Crb1	A	T	1: 139,248,948	Y371*	probably null	Het
Cul9	T	C	17: 46,521,928	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,444,640	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,256,292	S780T	probably benign	Het
Fzd5	G	T	1: 64,735,656	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695	S340P	probably damaging	Het
Galnt7	T	C	8: 57,526,166	D641G	probably damaging	Het
Gm7133	A	G	1: 97,183,223		noncoding transcript	Het
Heatr5b	A	G	17: 78,813,173	L774P	possibly damaging	Het
Itch	T	A	2: 155,174,065	S157T	probably benign	Het
Itgam	A	C	7: 128,085,652	D398A	probably damaging	Het
Kalrn	G	T	16: 33,985,191	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,819,451	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,860,692		probably benign	Het
Krt2	G	C	15: 101,815,914	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,506,607	N1645D	probably damaging	Het
Naf1	T	A	8: 66,883,444	I341K	probably damaging	Het
Nbea	G	T	3: 56,029,896	H765N	probably damaging	Het
Ncapd3	A	G	9: 27,063,982	I776V	probably benign	Het
Neo1	A	T	9: 58,917,008	D712E	probably benign	Het
Neu1	G	A	17: 34,934,754	V385I	probably benign	Het
Olfr114	C	A	17: 37,589,926	R142S	probably benign	Het
Olfr575	C	A	7: 102,954,804	G273C	probably damaging	Het
Olfr575	A	G	7: 102,955,530	Y24H	probably benign	Het
Pgghg	A	C	7: 140,943,395	T196P	possibly damaging	Het
Pira2	A	T	7: 3,842,446	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,082,368	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509	N21K	probably damaging	Het
Prune1	T	C	3: 95,262,243	D216G	probably benign	Het
Ptpn23	G	T	9: 110,387,825		probably benign	Het
Ranbp2	T	A	10: 58,465,529	M668K	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpsa	G	T	9: 120,131,036	V222L	probably benign	Het
Sept2	A	G	1: 93,497,376	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,625,014	D260V	probably damaging	Het
Srrm2	G	T	17: 23,820,356	M2087I	possibly damaging	Het
Tg	T	C	15: 66,828,457	L88P	probably damaging	Het
Tns1	A	G	1: 73,952,419		probably null	Het
Topbp1	A	T	9: 103,346,961	D1429V	probably benign	Het
Tprg	A	G	16: 25,422,401		probably null	Het
Trit1	T	C	4: 123,039,468	I66T	possibly damaging	Het
Usf3	A	T	16: 44,217,307	I717L	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
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
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
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'- AGAGTGGGGCTGCATTTCTC -3'
(R):5'- CACAATAGGGAGCCATTTGTTTTC -3'

Sequencing Primer
(F):5'- CTCTTTATGACATTTCACATGACGG -3'
(R):5'- TCTCCACAGGCTTGAGCTCAG -3'

Posted On

2017-08-16