Incidental Mutation 'R4704:Ascc3'
ID 356301
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 041952-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4704 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 50468756-50727300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50535110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 668 (I668V)
Ref Sequence ENSEMBL: ENSMUSP00000036726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035606]
AlphaFold E9PZJ8
Predicted Effect probably benign
Transcript: ENSMUST00000035606
AA Change: I668V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: I668V

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (89/92)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,959,259 (GRCm39) M147K probably damaging Het
Abca13 A G 11: 9,226,990 (GRCm39) D582G possibly damaging Het
Abca2 T C 2: 25,333,424 (GRCm39) L1683P probably damaging Het
Adam39 A G 8: 41,278,833 (GRCm39) H408R probably benign Het
Adcy4 A G 14: 56,012,482 (GRCm39) S554P possibly damaging Het
Ahnak T C 19: 8,990,545 (GRCm39) I3943T probably damaging Het
Ahnak T G 19: 8,989,622 (GRCm39) probably benign Het
Alkal2 T A 12: 30,937,195 (GRCm39) S109R probably damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Arpc3 A G 5: 122,538,471 (GRCm39) M1V probably null Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Bdnf T A 2: 109,554,037 (GRCm39) M137K possibly damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Cds2 T A 2: 132,142,522 (GRCm39) Y239* probably null Het
Cpped1 G A 16: 11,703,493 (GRCm39) probably benign Het
Ctu2 G A 8: 123,206,042 (GRCm39) R261Q probably damaging Het
Cux1 A G 5: 136,278,055 (GRCm39) V645A probably benign Het
Cyp4f13 A G 17: 33,144,709 (GRCm39) C401R probably damaging Het
Dpt T G 1: 164,646,518 (GRCm39) Y162* probably null Het
Ednra A G 8: 78,394,592 (GRCm39) probably benign Het
Eepd1 A G 9: 25,394,122 (GRCm39) T129A probably benign Het
Eif2s1 A G 12: 78,923,944 (GRCm39) T134A probably benign Het
Eloa A G 4: 135,738,525 (GRCm39) V145A probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Eng T C 2: 32,568,924 (GRCm39) S484P probably benign Het
Eogt A T 6: 97,090,813 (GRCm39) V442E probably damaging Het
Fam185a C T 5: 21,685,471 (GRCm39) probably benign Het
Gm4922 C T 10: 18,660,567 (GRCm39) V52I probably benign Het
Gnao1 A G 8: 94,538,004 (GRCm39) E14G probably benign Het
Gpr75 C A 11: 30,841,110 (GRCm39) A5D probably benign Het
Hbq1b T A 11: 32,237,448 (GRCm39) probably benign Het
Hdac7 G A 15: 97,694,097 (GRCm39) T724M probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Irak4 A G 15: 94,464,781 (GRCm39) probably null Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kifc2 T C 15: 76,547,177 (GRCm39) probably null Het
Kmt2c G A 5: 25,519,025 (GRCm39) Q2362* probably null Het
Kntc1 G A 5: 123,949,496 (GRCm39) E1956K probably damaging Het
Lama3 T C 18: 12,686,280 (GRCm39) V2781A probably benign Het
Lipt2 A G 7: 99,809,534 (GRCm39) E207G probably damaging Het
Mag A T 7: 30,608,598 (GRCm39) L172Q probably damaging Het
Map1b A T 13: 99,566,983 (GRCm39) C1913S unknown Het
Mical3 A G 6: 120,935,649 (GRCm39) S1626P probably benign Het
Mslnl G T 17: 25,957,952 (GRCm39) W65L possibly damaging Het
Muc20 G T 16: 32,599,448 (GRCm39) A3332S possibly damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Nkx2-3 G A 19: 43,601,123 (GRCm39) E62K probably damaging Het
Or6c2 T C 10: 129,362,171 (GRCm39) L25P possibly damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcna-ps2 T A 19: 9,260,786 (GRCm39) V15E possibly damaging Het
Plekhg3 G T 12: 76,625,012 (GRCm39) G1285W probably damaging Het
Pramel29 A T 4: 143,935,162 (GRCm39) I193N probably damaging Het
Procr A G 2: 155,596,258 (GRCm39) S142G probably damaging Het
Ptpn3 A T 4: 57,270,119 (GRCm39) N14K possibly damaging Het
Rin1 C A 19: 5,105,018 (GRCm39) L693I probably damaging Het
Ripk4 C A 16: 97,547,204 (GRCm39) E290* probably null Het
Rnf213 A G 11: 119,331,175 (GRCm39) Y2128C probably damaging Het
Saal1 T C 7: 46,349,164 (GRCm39) probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Serpinf1 C A 11: 75,301,867 (GRCm39) A263S probably damaging Het
Sgo2b A T 8: 64,380,824 (GRCm39) D669E probably damaging Het
Slc30a9 T C 5: 67,499,616 (GRCm39) probably benign Het
Sri A T 5: 8,112,430 (GRCm39) probably null Het
Sspo G A 6: 48,475,638 (GRCm39) C4918Y probably damaging Het
Szt2 A G 4: 118,251,026 (GRCm39) Y361H probably damaging Het
Tbc1d12 T A 19: 38,889,781 (GRCm39) W404R probably damaging Het
Tcf20 T C 15: 82,735,928 (GRCm39) E1841G possibly damaging Het
Tep1 T C 14: 51,074,530 (GRCm39) T1832A probably benign Het
Tmem132e G A 11: 82,334,357 (GRCm39) A623T probably damaging Het
Tmem201 A T 4: 149,811,774 (GRCm39) F357Y possibly damaging Het
Trappc13 T G 13: 104,303,329 (GRCm39) probably benign Het
Trav6-5 C T 14: 53,728,883 (GRCm39) Q47* probably null Het
Ubxn1 T A 19: 8,849,399 (GRCm39) D47E probably benign Het
Vmn2r45 G T 7: 8,486,535 (GRCm39) S251* probably null Het
Wnk1 A G 6: 119,942,705 (GRCm39) L774S possibly damaging Het
Zfp189 T C 4: 49,530,081 (GRCm39) S395P probably damaging Het
Other mutations in Ascc3
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0165:Ascc3 UTSW 10 50,718,223 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- AGACCTCTGTTGACCTCTAACC -3'
(R):5'- AGGAGTGCCTGACTTCATTTG -3'

Sequencing Primer
(F):5'- AACCTCATATCCGTCTCCTGCAG -3'
(R):5'- ATATTTTATGGAAGTGATGCTGGG -3'
Posted On 2015-10-21