Incidental Mutation 'R7479:Ascc3'
ID 579684
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 045553-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7479 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 50468756-50727300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50525895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 536 (Y536N)
Ref Sequence ENSEMBL: ENSMUSP00000036726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035606]
AlphaFold E9PZJ8
Predicted Effect probably damaging
Transcript: ENSMUST00000035606
AA Change: Y536N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: Y536N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,142 (GRCm39) M81L probably benign Het
Ano9 T C 7: 140,682,348 (GRCm39) T667A probably damaging Het
Anpep T A 7: 79,485,118 (GRCm39) I623F probably benign Het
Apba2 T C 7: 64,389,607 (GRCm39) I501T possibly damaging Het
B4galt1 T C 4: 40,823,587 (GRCm39) Y168C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2 A G 17: 35,082,441 (GRCm39) C647R probably damaging Het
Cnot4 G A 6: 35,001,083 (GRCm39) T604I probably benign Het
Col11a1 C T 3: 113,896,218 (GRCm39) T506I unknown Het
Cr2 A C 1: 194,840,718 (GRCm39) probably null Het
Ctsm A T 13: 61,685,569 (GRCm39) V281D probably damaging Het
Cyp2c69 T C 19: 39,870,001 (GRCm39) I74V probably benign Het
Dennd4c T A 4: 86,717,590 (GRCm39) V529D probably damaging Het
Dlgap3 C A 4: 127,088,418 (GRCm39) H5N possibly damaging Het
Dusp10 C A 1: 183,769,617 (GRCm39) H194Q probably damaging Het
Eln C G 5: 134,736,429 (GRCm39) G753A unknown Het
Emb T A 13: 117,385,962 (GRCm39) N118K possibly damaging Het
Fam184a C T 10: 53,531,110 (GRCm39) V755I probably benign Het
Fryl A G 5: 73,254,904 (GRCm39) I846T possibly damaging Het
Gabbr2 T A 4: 46,681,166 (GRCm39) I722F probably damaging Het
Gabrb3 T A 7: 57,474,171 (GRCm39) D362E possibly damaging Het
Galnt2 G A 8: 125,061,077 (GRCm39) G357D probably damaging Het
Gbx2 A T 1: 89,858,373 (GRCm39) S35R probably benign Het
Glg1 A G 8: 111,924,367 (GRCm39) I207T possibly damaging Het
Gm10192 A T 4: 97,071,272 (GRCm39) N44K unknown Het
Gpd1 A G 15: 99,617,984 (GRCm39) D123G probably benign Het
Grm2 A T 9: 106,531,050 (GRCm39) D146E possibly damaging Het
Gsg1l2 A G 11: 67,676,032 (GRCm39) D132G probably benign Het
Hecw1 C T 13: 14,515,425 (GRCm39) G236R probably damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hspg2 C T 4: 137,266,714 (GRCm39) A1934V probably benign Het
Il7r C T 15: 9,513,117 (GRCm39) A131T probably damaging Het
Itga6 C T 2: 71,668,680 (GRCm39) R540* probably null Het
Kcnh2 A G 5: 24,530,490 (GRCm39) probably null Het
Kcnq4 C T 4: 120,573,022 (GRCm39) A260T probably damaging Het
Lrp1b T C 2: 40,691,517 (GRCm39) N3434S Het
Lrrc41 C T 4: 115,946,238 (GRCm39) P318S probably damaging Het
Map4 G A 9: 109,897,892 (GRCm39) G873R possibly damaging Het
Med24 A G 11: 98,595,787 (GRCm39) I968T possibly damaging Het
Mfap5 T C 6: 122,503,821 (GRCm39) probably null Het
Mtcl1 A G 17: 66,686,485 (GRCm39) V807A probably benign Het
Mug1 T A 6: 121,855,467 (GRCm39) S934T possibly damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nkx2-4 T C 2: 146,926,088 (GRCm39) E258G probably benign Het
Polr1a T A 6: 71,913,281 (GRCm39) V545E probably damaging Het
Ppp1r9b A G 11: 94,882,858 (GRCm39) D162G possibly damaging Het
Rhot2 A G 17: 26,059,723 (GRCm39) L367P probably damaging Het
Ripk2 A G 4: 16,155,154 (GRCm39) F122L probably benign Het
Scn11a T C 9: 119,588,941 (GRCm39) T1322A probably benign Het
Scn8a T A 15: 100,853,358 (GRCm39) L115Q probably damaging Het
Sel1l3 G T 5: 53,274,462 (GRCm39) P1006Q probably damaging Het
Septin11 A T 5: 93,304,804 (GRCm39) N207I probably damaging Het
Sez6l2 C T 7: 126,562,831 (GRCm39) T669I probably damaging Het
Sfxn4 T A 19: 60,847,112 (GRCm39) D57V possibly damaging Het
Smarca2 T A 19: 26,617,887 (GRCm39) V306D probably benign Het
Srgap3 C T 6: 112,712,794 (GRCm39) probably null Het
Tas2r134 T C 2: 51,517,541 (GRCm39) F7L not run Het
Tbcd T C 11: 121,383,431 (GRCm39) probably null Het
Tcn2 G A 11: 3,867,703 (GRCm39) A413V probably damaging Het
Tdp1 T C 12: 99,857,654 (GRCm39) V71A probably benign Het
Tjp1 T C 7: 64,950,928 (GRCm39) T1649A probably damaging Het
Tnc T C 4: 63,935,865 (GRCm39) E357G possibly damaging Het
Tnrc6b A G 15: 80,773,327 (GRCm39) T1158A probably benign Het
Ttn C A 2: 76,568,952 (GRCm39) E27314* probably null Het
Vps35 G T 8: 85,997,434 (GRCm39) T512K probably benign Het
Zfp40 A T 17: 23,396,292 (GRCm39) S98R probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp945 A T 17: 23,070,340 (GRCm39) C541S possibly damaging Het
Zfp976 T A 7: 42,262,603 (GRCm39) E412D probably benign 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
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'- AGGCGCGAAATTATGTTTAGG -3'
(R):5'- GCCCAGAAACAGTCTATGCTTTG -3'

Sequencing Primer
(F):5'- TTACGTAACCACATGCTTAATTCC -3'
(R):5'- ATCTTACACACACACTTGTTTCTAC -3'
Posted On 2019-10-07