Incidental Mutation 'R7538:Ascc3'
ID 583735
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 045610-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7538 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 50468756-50727300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50721796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 2083 (L2083P)
Ref Sequence ENSEMBL: ENSMUSP00000036726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035606]
AlphaFold E9PZJ8
Predicted Effect probably damaging
Transcript: ENSMUST00000035606
AA Change: L2083P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: L2083P

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 0.9334 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
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
Adamts8 C A 9: 30,864,766 (GRCm39) P419H probably damaging Het
Adgra3 C T 5: 50,118,792 (GRCm39) V919I probably benign Het
Akap12 G A 10: 4,303,213 (GRCm39) V113I probably damaging Het
Akr1d1 T A 6: 37,513,043 (GRCm39) I113K probably benign Het
Alx3 A T 3: 107,511,680 (GRCm39) I230F probably damaging Het
Apob A T 12: 8,052,219 (GRCm39) D1220V probably damaging Het
Atp10b A G 11: 43,116,373 (GRCm39) I907V probably benign Het
B4galnt3 G T 6: 120,271,384 (GRCm39) S46* probably null Het
Bfsp1 A C 2: 143,673,755 (GRCm39) probably null Het
Cant1 G A 11: 118,302,291 (GRCm39) R9W possibly damaging Het
Ccdc88a A T 11: 29,413,370 (GRCm39) H636L probably benign Het
Cfi G A 3: 129,652,464 (GRCm39) R297H probably benign Het
Cherp T A 8: 73,216,263 (GRCm39) Q749L Het
Clec10a A G 11: 70,060,604 (GRCm39) D153G probably benign Het
Cnga1 T C 5: 72,769,723 (GRCm39) K99E probably benign Het
Cyp2r1 A T 7: 114,162,002 (GRCm39) V64D probably damaging Het
Dact3 T A 7: 16,609,443 (GRCm39) W32R probably damaging Het
Dennd4c T C 4: 86,692,753 (GRCm39) C88R probably damaging Het
Dock8 A T 19: 25,135,782 (GRCm39) D1200V probably damaging Het
Drosha C G 15: 12,926,329 (GRCm39) S1262W probably damaging Het
Dtnb T C 12: 3,823,611 (GRCm39) M592T possibly damaging Het
Eef2k T A 7: 120,491,215 (GRCm39) V567E probably benign Het
Fem1b A G 9: 62,718,449 (GRCm39) S47P probably damaging Het
Fryl T C 5: 73,180,019 (GRCm39) E2864G probably benign Het
Fscn2 A G 11: 120,258,152 (GRCm39) N358S possibly damaging Het
Fsip2 T C 2: 82,818,894 (GRCm39) S4876P possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Grhl2 T C 15: 37,328,603 (GRCm39) Y410H probably damaging Het
Gucy2c C T 6: 136,686,742 (GRCm39) G831D probably damaging Het
Hars1 A T 18: 36,904,194 (GRCm39) D228E probably benign Het
Hdhd5 T C 6: 120,498,257 (GRCm39) D114G possibly damaging Het
Kcna2 A G 3: 107,011,884 (GRCm39) Y155C probably benign Het
Klc1 A G 12: 111,751,879 (GRCm39) K441R probably benign Het
Kmt2a A G 9: 44,759,041 (GRCm39) L936P probably damaging Het
Map3k6 T C 4: 132,979,238 (GRCm39) V1197A probably benign Het
Mthfsd C T 8: 121,825,525 (GRCm39) A349T probably benign Het
Mtmr7 G A 8: 41,050,427 (GRCm39) R123W probably damaging Het
Muc16 T A 9: 18,553,427 (GRCm39) I4289F probably benign Het
Muc16 G A 9: 18,566,747 (GRCm39) T1924I unknown Het
Mybpc3 A C 2: 90,950,832 (GRCm39) D220A probably damaging Het
Neb A T 2: 52,146,587 (GRCm39) probably null Het
Nectin2 A G 7: 19,464,544 (GRCm39) W287R probably damaging Het
Nipsnap1 A T 11: 4,834,089 (GRCm39) T114S probably damaging Het
Nol9 T C 4: 152,124,115 (GRCm39) S102P probably benign Het
Olfml2b A T 1: 170,477,402 (GRCm39) K179I possibly damaging Het
Or4a80 G T 2: 89,582,665 (GRCm39) P169H probably damaging Het
Pcnt T C 10: 76,235,773 (GRCm39) M1403V probably benign Het
Phf7 T C 14: 30,960,386 (GRCm39) D284G probably benign Het
Pias3 A G 3: 96,609,534 (GRCm39) T319A possibly damaging Het
Pik3ip1 A T 11: 3,283,558 (GRCm39) I189F probably damaging Het
Pik3r1 T A 13: 101,825,914 (GRCm39) T371S probably damaging Het
Prmt7 A G 8: 106,964,018 (GRCm39) D304G probably benign Het
Prpf6 T C 2: 181,294,248 (GRCm39) V818A probably benign Het
Pstpip2 A G 18: 77,959,305 (GRCm39) E185G probably damaging Het
Ptprz1 T G 6: 22,999,895 (GRCm39) F662V possibly damaging Het
Rasgrp3 T C 17: 75,803,411 (GRCm39) F70L probably benign Het
Rcor1 A T 12: 111,034,271 (GRCm39) probably null Het
Rnasel A G 1: 153,630,306 (GRCm39) K274R probably benign Het
Rsbn1l G A 5: 21,101,455 (GRCm39) T695I probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sema3a T C 5: 13,611,787 (GRCm39) V351A probably benign Het
Serpina12 A G 12: 104,004,587 (GRCm39) L15P unknown Het
Siah1a G A 8: 87,451,840 (GRCm39) R215C probably benign Het
Sin3a T A 9: 57,011,210 (GRCm39) V489D possibly damaging Het
Slc22a17 A G 14: 55,149,575 (GRCm39) I208T probably benign Het
Slc36a4 G A 9: 15,645,511 (GRCm39) V313M possibly damaging Het
Sod1 T A 16: 90,023,114 (GRCm39) L145* probably null Het
Svep1 T C 4: 58,053,260 (GRCm39) N3362D possibly damaging Het
Taf4b T C 18: 14,946,602 (GRCm39) L475P probably damaging Het
Telo2 G T 17: 25,329,795 (GRCm39) T239K probably benign Het
Trmt11 T G 10: 30,436,870 (GRCm39) D290A probably damaging Het
Trpc4 A T 3: 54,225,516 (GRCm39) D955V possibly damaging Het
Trpv6 T C 6: 41,603,101 (GRCm39) N257S probably benign Het
Usp12 T C 5: 146,731,430 (GRCm39) T15A probably benign Het
Vars2 G T 17: 35,971,672 (GRCm39) Q526K probably damaging Het
Vipas39 A G 12: 87,310,677 (GRCm39) probably null Het
Zfp689 A T 7: 127,044,010 (GRCm39) C207S probably damaging Het
Zfpl1 C A 19: 6,134,432 (GRCm39) E18* probably null 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
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
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'- GAAGCACACCATTTCTTAGTTGTTC -3'
(R):5'- TGCTAATGCGAGTTGAGAAAGC -3'

Sequencing Primer
(F):5'- CTTTTTCATTCAGGCATGGAATTTC -3'
(R):5'- CAGGATTCATGAATGACACGAAC -3'
Posted On 2019-10-17