Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Ascc3'

258002

Institutional Source

Beutler Lab

Gene Symbol

Ascc3

Ensembl Gene

ENSMUSG00000038774

Gene Name

activating signal cointegrator 1 complex subunit 3

Synonyms

Helic1, B630009I04Rik, ASC1p200

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0165 (G1)

Quality Score

134

Status

Not validated

Chromosome

Chromosomal Location

50468756-50727300 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 50718223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

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

AlphaFold

E9PZJ8

Predicted Effect

probably null
Transcript: ENSMUST00000035606

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774

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: ENSMUST00000217725

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,924 (GRCm39)	I717T	possibly damaging	Het
6430571L13Rik	A	G	9: 107,223,383 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,950,126 (GRCm39)		probably benign	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,558,499 (GRCm39)		probably benign	Het
Agap3	A	G	5: 24,684,743 (GRCm39)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,517,445 (GRCm39)	S459P	probably benign	Het
Armh4	A	G	14: 50,011,243 (GRCm39)	S155P	probably benign	Het
Brd1	T	C	15: 88,613,980 (GRCm39)	N305S	probably damaging	Het
Catip	T	A	1: 74,407,628 (GRCm39)	L320Q	possibly damaging	Het
Cplane1	G	A	15: 8,245,866 (GRCm39)	V1413M	probably damaging	Het
Cttnbp2	G	A	6: 18,435,409 (GRCm39)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,257,481 (GRCm39)	N228T	probably benign	Het
Dapk1	T	C	13: 60,909,407 (GRCm39)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Ddhd1	G	A	14: 45,833,049 (GRCm39)	T849M	probably damaging	Het
Dnah6	A	G	6: 72,998,306 (GRCm39)	S3987P	probably benign	Het
Dst	C	A	1: 34,193,727 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,049,203 (GRCm39)		probably null	Het
Ern2	T	C	7: 121,779,002 (GRCm39)	T281A	probably benign	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Gckr	A	G	5: 31,484,292 (GRCm39)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,293,419 (GRCm39)		probably null	Het
Gm7535	T	C	17: 18,131,437 (GRCm39)		probably benign	Het
Gmps	T	A	3: 63,901,375 (GRCm39)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,917,414 (GRCm39)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 110,401,998 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,657,867 (GRCm39)	I1934F	probably damaging	Het
Lars1	A	T	18: 42,335,762 (GRCm39)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,553,514 (GRCm39)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,111,739 (GRCm39)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Meiob	A	G	17: 25,054,135 (GRCm39)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,250,283 (GRCm39)	T41M	probably damaging	Het
Miga1	C	T	3: 151,996,480 (GRCm39)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,198,907 (GRCm39)		probably null	Het
Or5p62	T	C	7: 107,771,882 (GRCm39)	D23G	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,540,208 (GRCm39)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,381,434 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,099,974 (GRCm39)	M1826K	probably benign	Het
Qki	T	A	17: 10,457,892 (GRCm39)	D159V	probably damaging	Het
Rab12	A	T	17: 66,807,312 (GRCm39)	I139N	probably damaging	Het
Rab25	T	A	3: 88,455,362 (GRCm39)	E7D	probably benign	Het
Rala	A	T	13: 18,063,174 (GRCm39)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,230,407 (GRCm39)		probably benign	Het
Rbl2	T	A	8: 91,800,804 (GRCm39)	Y89N	probably damaging	Het
Rho	A	T	6: 115,909,188 (GRCm39)	I75F	probably damaging	Het
Slc38a4	C	A	15: 96,906,830 (GRCm39)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,245,670 (GRCm39)	D551G	probably null	Het
Smyd3	T	C	1: 178,871,437 (GRCm39)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,684,512 (GRCm39)	L180*	probably null	Het
Stat6	T	C	10: 127,493,096 (GRCm39)	V576A	probably damaging	Het
Strn	T	C	17: 78,984,803 (GRCm39)	D127G	possibly damaging	Het
Syne1	T	C	10: 4,983,096 (GRCm39)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,306,678 (GRCm39)		probably null	Het
Tcf3	C	T	10: 80,248,831 (GRCm39)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,103,286 (GRCm39)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,866,020 (GRCm39)		probably benign	Het
Tmprss11c	A	T	5: 86,379,786 (GRCm39)		probably benign	Het
Tnfsf18	A	G	1: 161,322,300 (GRCm39)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,742,871 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,639,433 (GRCm39)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,789,864 (GRCm39)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,551,686 (GRCm39)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,683,460 (GRCm39)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vwce	T	C	19: 10,637,337 (GRCm39)		probably benign	Het
Wdhd1	A	G	14: 47,504,525 (GRCm39)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,752,604 (GRCm39)	S560P	probably damaging	Het

Other mutations in Ascc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ascc3	APN	10	50,590,531 (GRCm39)	missense	probably damaging	0.99
IGL00690:Ascc3	APN	10	50,576,039 (GRCm39)	nonsense	probably null
IGL00897:Ascc3	APN	10	50,604,187 (GRCm39)	missense	probably benign	0.01
IGL01077:Ascc3	APN	10	50,525,413 (GRCm39)	splice site	probably benign
IGL01124:Ascc3	APN	10	50,608,569 (GRCm39)	missense	probably damaging	1.00
IGL01555:Ascc3	APN	10	50,626,618 (GRCm39)	missense	probably damaging	1.00
IGL02019:Ascc3	APN	10	50,566,235 (GRCm39)	missense	probably damaging	1.00
IGL02161:Ascc3	APN	10	50,726,623 (GRCm39)	nonsense	probably null
IGL02247:Ascc3	APN	10	50,526,686 (GRCm39)	missense	probably damaging	1.00
IGL02318:Ascc3	APN	10	50,604,250 (GRCm39)	nonsense	probably null
IGL02428:Ascc3	APN	10	50,721,791 (GRCm39)	nonsense	probably null
IGL02432:Ascc3	APN	10	50,576,589 (GRCm39)	missense	probably damaging	0.99
IGL02449:Ascc3	APN	10	50,576,695 (GRCm39)	missense	probably benign	0.00
IGL02640:Ascc3	APN	10	50,643,470 (GRCm39)	missense	possibly damaging	0.69
IGL02673:Ascc3	APN	10	50,536,769 (GRCm39)	missense	probably benign	0.01
IGL03144:Ascc3	APN	10	50,643,539 (GRCm39)	missense	probably benign	0.16
IGL03161:Ascc3	APN	10	50,494,168 (GRCm39)	missense	probably damaging	0.98
IGL03218:Ascc3	APN	10	50,699,949 (GRCm39)	missense	possibly damaging	0.89
algorithm	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
heuristic	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
network	UTSW	10	50,630,175 (GRCm39)	missense	possibly damaging	0.53
R0045:Ascc3	UTSW	10	50,594,498 (GRCm39)	nonsense	probably null
R0045:Ascc3	UTSW	10	50,594,498 (GRCm39)	nonsense	probably null
R0131:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0131:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0132:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0149:Ascc3	UTSW	10	50,484,089 (GRCm39)	missense	probably benign	0.31
R0255:Ascc3	UTSW	10	50,521,154 (GRCm39)	missense	probably benign	0.00
R0310:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0314:Ascc3	UTSW	10	50,514,095 (GRCm39)	missense	possibly damaging	0.92
R0362:Ascc3	UTSW	10	50,625,051 (GRCm39)	splice site	probably benign
R0418:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0419:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0421:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0480:Ascc3	UTSW	10	50,611,348 (GRCm39)	missense	probably damaging	1.00
R0744:Ascc3	UTSW	10	50,721,762 (GRCm39)	missense	probably benign	0.17
R0833:Ascc3	UTSW	10	50,721,762 (GRCm39)	missense	probably benign	0.17
R1231:Ascc3	UTSW	10	50,699,756 (GRCm39)	missense	probably damaging	1.00
R1264:Ascc3	UTSW	10	50,518,615 (GRCm39)	splice site	probably benign
R1302:Ascc3	UTSW	10	50,480,890 (GRCm39)	start codon destroyed	probably null	1.00
R1751:Ascc3	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
R1767:Ascc3	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
R1769:Ascc3	UTSW	10	50,576,586 (GRCm39)	missense	probably damaging	1.00
R1840:Ascc3	UTSW	10	50,566,257 (GRCm39)	missense	probably benign	0.00
R1855:Ascc3	UTSW	10	50,494,018 (GRCm39)	missense	probably benign	0.01
R1953:Ascc3	UTSW	10	50,721,726 (GRCm39)	missense	probably benign
R1976:Ascc3	UTSW	10	50,525,262 (GRCm39)	missense	probably damaging	1.00
R2004:Ascc3	UTSW	10	50,493,838 (GRCm39)	missense	probably damaging	1.00
R2013:Ascc3	UTSW	10	50,525,908 (GRCm39)	missense	probably damaging	0.99
R2017:Ascc3	UTSW	10	50,566,307 (GRCm39)	missense	probably benign	0.00
R2040:Ascc3	UTSW	10	50,604,227 (GRCm39)	missense	probably benign
R2043:Ascc3	UTSW	10	50,576,616 (GRCm39)	missense	probably damaging	1.00
R2165:Ascc3	UTSW	10	50,597,935 (GRCm39)	missense	probably damaging	1.00
R2226:Ascc3	UTSW	10	50,630,148 (GRCm39)	missense	probably benign	0.07
R2310:Ascc3	UTSW	10	50,624,988 (GRCm39)	missense	probably benign	0.15
R2405:Ascc3	UTSW	10	50,607,774 (GRCm39)	missense	probably damaging	1.00
R2424:Ascc3	UTSW	10	50,494,297 (GRCm39)	missense	probably benign	0.14
R3410:Ascc3	UTSW	10	50,576,196 (GRCm39)	missense	probably damaging	1.00
R3617:Ascc3	UTSW	10	50,494,281 (GRCm39)	missense	probably benign	0.00
R3771:Ascc3	UTSW	10	50,596,814 (GRCm39)	splice site	probably benign
R3783:Ascc3	UTSW	10	50,604,350 (GRCm39)	missense	probably damaging	1.00
R3891:Ascc3	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
R3892:Ascc3	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
R4435:Ascc3	UTSW	10	50,597,981 (GRCm39)	missense	probably benign	0.14
R4509:Ascc3	UTSW	10	50,718,339 (GRCm39)	missense	probably benign	0.00
R4520:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4521:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4522:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4524:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4581:Ascc3	UTSW	10	50,587,121 (GRCm39)	missense	probably damaging	1.00
R4701:Ascc3	UTSW	10	50,596,760 (GRCm39)	missense	possibly damaging	0.66
R4704:Ascc3	UTSW	10	50,535,110 (GRCm39)	missense	probably benign	0.02
R4768:Ascc3	UTSW	10	50,576,595 (GRCm39)	missense	probably damaging	1.00
R4823:Ascc3	UTSW	10	50,589,329 (GRCm39)	missense	probably damaging	1.00
R4906:Ascc3	UTSW	10	50,625,227 (GRCm39)	missense	probably damaging	1.00
R4937:Ascc3	UTSW	10	50,699,894 (GRCm39)	missense	probably damaging	1.00
R5001:Ascc3	UTSW	10	50,699,744 (GRCm39)	missense	probably damaging	1.00
R5151:Ascc3	UTSW	10	50,514,059 (GRCm39)	missense	probably damaging	0.99
R5263:Ascc3	UTSW	10	50,592,757 (GRCm39)	missense	probably benign	0.00
R5302:Ascc3	UTSW	10	50,583,873 (GRCm39)	missense	probably benign	0.09
R5436:Ascc3	UTSW	10	50,535,079 (GRCm39)	missense	probably damaging	0.99
R5455:Ascc3	UTSW	10	50,725,679 (GRCm39)	missense	probably benign	0.06
R5474:Ascc3	UTSW	10	50,725,634 (GRCm39)	missense	probably benign	0.25
R5744:Ascc3	UTSW	10	50,586,977 (GRCm39)	missense	probably benign
R5781:Ascc3	UTSW	10	50,514,074 (GRCm39)	missense	probably damaging	1.00
R5850:Ascc3	UTSW	10	50,587,049 (GRCm39)	missense	probably damaging	1.00
R5867:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R5868:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R5869:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6031:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6031:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6032:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6032:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6109:Ascc3	UTSW	10	50,525,343 (GRCm39)	missense	probably benign	0.37
R6122:Ascc3	UTSW	10	50,494,021 (GRCm39)	missense	probably benign
R6128:Ascc3	UTSW	10	50,526,734 (GRCm39)	missense	probably damaging	1.00
R6351:Ascc3	UTSW	10	50,596,769 (GRCm39)	missense	probably damaging	0.99
R6368:Ascc3	UTSW	10	50,576,081 (GRCm39)	missense	probably damaging	1.00
R6369:Ascc3	UTSW	10	50,576,081 (GRCm39)	missense	probably damaging	1.00
R6409:Ascc3	UTSW	10	50,721,676 (GRCm39)	missense	probably benign	0.09
R6472:Ascc3	UTSW	10	50,596,783 (GRCm39)	missense	probably benign	0.03
R6474:Ascc3	UTSW	10	50,624,932 (GRCm39)	missense	probably benign	0.01
R6480:Ascc3	UTSW	10	50,587,049 (GRCm39)	missense	probably damaging	1.00
R6553:Ascc3	UTSW	10	50,718,273 (GRCm39)	missense	probably benign	0.05
R6572:Ascc3	UTSW	10	50,566,343 (GRCm39)	nonsense	probably null
R6585:Ascc3	UTSW	10	50,718,273 (GRCm39)	missense	probably benign	0.05
R6656:Ascc3	UTSW	10	50,526,021 (GRCm39)	nonsense	probably null
R6669:Ascc3	UTSW	10	50,716,469 (GRCm39)	missense	probably benign
R6675:Ascc3	UTSW	10	50,626,659 (GRCm39)	nonsense	probably null
R6790:Ascc3	UTSW	10	50,521,808 (GRCm39)	missense	probably damaging	1.00
R6856:Ascc3	UTSW	10	50,625,158 (GRCm39)	missense	probably damaging	1.00
R6862:Ascc3	UTSW	10	50,725,742 (GRCm39)	missense	probably null	0.51
R6919:Ascc3	UTSW	10	50,521,849 (GRCm39)	nonsense	probably null
R6936:Ascc3	UTSW	10	50,606,057 (GRCm39)	missense	probably damaging	0.98
R6953:Ascc3	UTSW	10	50,521,762 (GRCm39)	missense	probably benign	0.00
R6957:Ascc3	UTSW	10	50,604,278 (GRCm39)	missense	probably damaging	1.00
R7022:Ascc3	UTSW	10	50,592,725 (GRCm39)	missense	possibly damaging	0.55
R7050:Ascc3	UTSW	10	50,716,446 (GRCm39)	missense	probably benign	0.43
R7358:Ascc3	UTSW	10	50,590,448 (GRCm39)	nonsense	probably null
R7479:Ascc3	UTSW	10	50,525,895 (GRCm39)	missense	probably damaging	1.00
R7538:Ascc3	UTSW	10	50,721,796 (GRCm39)	missense	probably damaging	1.00
R7838:Ascc3	UTSW	10	50,604,393 (GRCm39)	missense	probably benign	0.04
R8021:Ascc3	UTSW	10	50,607,744 (GRCm39)	missense	probably benign	0.02
R8134:Ascc3	UTSW	10	50,643,554 (GRCm39)	missense	probably benign	0.02
R8252:Ascc3	UTSW	10	50,518,706 (GRCm39)	missense	probably benign
R8348:Ascc3	UTSW	10	50,494,173 (GRCm39)	missense	probably benign
R8351:Ascc3	UTSW	10	50,725,693 (GRCm39)	missense	probably benign
R8356:Ascc3	UTSW	10	50,526,003 (GRCm39)	missense	probably benign	0.38
R8362:Ascc3	UTSW	10	50,518,692 (GRCm39)	missense	possibly damaging	0.93
R8395:Ascc3	UTSW	10	50,525,400 (GRCm39)	missense	possibly damaging	0.93
R8448:Ascc3	UTSW	10	50,494,173 (GRCm39)	missense	probably benign
R8957:Ascc3	UTSW	10	50,576,208 (GRCm39)	missense	probably damaging	1.00
R9004:Ascc3	UTSW	10	50,718,276 (GRCm39)	missense	probably benign
R9133:Ascc3	UTSW	10	50,630,175 (GRCm39)	missense	possibly damaging	0.53
R9200:Ascc3	UTSW	10	50,521,787 (GRCm39)	missense	possibly damaging	0.55
R9328:Ascc3	UTSW	10	50,535,015 (GRCm39)	missense	probably damaging	1.00
R9377:Ascc3	UTSW	10	50,608,858 (GRCm39)	missense	possibly damaging	0.62
R9412:Ascc3	UTSW	10	50,525,230 (GRCm39)	missense	probably benign	0.00
R9576:Ascc3	UTSW	10	50,494,254 (GRCm39)	missense	possibly damaging	0.71
R9796:Ascc3	UTSW	10	50,608,801 (GRCm39)	nonsense	probably null
X0021:Ascc3	UTSW	10	50,576,686 (GRCm39)	missense	possibly damaging	0.88
X0025:Ascc3	UTSW	10	50,526,692 (GRCm39)	missense	probably benign	0.00
X0026:Ascc3	UTSW	10	50,608,574 (GRCm39)	missense	probably damaging	1.00
Z1177:Ascc3	UTSW	10	50,594,517 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2015-01-14