Incidental Mutation 'R5151:Ascc3'
ID 395378
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 042733-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5151 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 50468756-50727300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50514059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 286 (N286S)
Ref Sequence ENSEMBL: ENSMUSP00000151273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035606] [ENSMUST00000220355]
AlphaFold E9PZJ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000035606
AA Change: N286S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: N286S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217968
Predicted Effect probably damaging
Transcript: ENSMUST00000220355
AA Change: N286S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T A 15: 101,108,651 (GRCm39) C476S probably damaging Het
Agpat2 A G 2: 26,487,218 (GRCm39) M120T probably damaging Het
Ahnak A G 19: 8,994,933 (GRCm39) T5406A probably benign Het
Ano4 A G 10: 88,948,775 (GRCm39) F112L probably damaging Het
Arhgef11 T A 3: 87,642,667 (GRCm39) V1371D probably damaging Het
Ate1 T C 7: 130,109,394 (GRCm39) K202E possibly damaging Het
Cacna1d T C 14: 29,845,280 (GRCm39) T630A probably damaging Het
Ccdc187 G T 2: 26,183,451 (GRCm39) T183N probably damaging Het
Cdk12 C T 11: 98,140,749 (GRCm39) probably benign Het
Ciita A G 16: 10,341,594 (GRCm39) N978S probably damaging Het
Cit A T 5: 116,117,894 (GRCm39) Q1268L probably damaging Het
Csf2rb C T 15: 78,224,781 (GRCm39) R180W probably damaging Het
Dnah17 T C 11: 117,918,293 (GRCm39) I4079V probably damaging Het
Dnah7a A G 1: 53,659,929 (GRCm39) V693A probably benign Het
Dnah8 T A 17: 30,931,269 (GRCm39) V1428E probably benign Het
Dnhd1 C A 7: 105,362,647 (GRCm39) Q3777K probably benign Het
Dock9 A G 14: 121,815,582 (GRCm39) Y1666H probably damaging Het
Dpysl3 C T 18: 43,571,145 (GRCm39) G43D probably benign Het
Eftud2 A G 11: 102,758,670 (GRCm39) probably null Het
Erich4 T C 7: 25,315,292 (GRCm39) probably benign Het
Fah T A 7: 84,250,259 (GRCm39) D99V possibly damaging Het
Fat1 T C 8: 45,404,851 (GRCm39) V534A possibly damaging Het
Fgf21 G C 7: 45,263,456 (GRCm39) S207R probably damaging Het
Fras1 C T 5: 96,792,969 (GRCm39) P967S probably damaging Het
H2-T23 T C 17: 36,343,230 (GRCm39) D49G probably damaging Het
Hmcn2 A G 2: 31,279,455 (GRCm39) N1819S probably null Het
Hoxc12 A G 15: 102,846,881 (GRCm39) I258V probably damaging Het
Ighv1-22 T A 12: 114,709,928 (GRCm39) T106S probably damaging Het
Inpp5j T C 11: 3,452,270 (GRCm39) T327A probably damaging Het
Iqgap3 G T 3: 88,025,067 (GRCm39) M689I possibly damaging Het
Itga7 G A 10: 128,780,380 (GRCm39) G559S possibly damaging Het
Kcnq1 G T 7: 142,979,749 (GRCm39) V632L probably benign Het
Lsamp T C 16: 41,954,792 (GRCm39) V230A probably damaging Het
Mfn2 A T 4: 147,970,785 (GRCm39) S305T probably benign Het
Myom3 A G 4: 135,516,883 (GRCm39) T818A probably benign Het
Nacc2 G A 2: 25,980,365 (GRCm39) R24C probably damaging Het
Ntrk3 A C 7: 77,897,048 (GRCm39) I663R probably damaging Het
Nyap1 A G 5: 137,734,376 (GRCm39) V219A probably damaging Het
Obox3 A T 7: 15,360,173 (GRCm39) N165K probably damaging Het
Or13a1 T A 6: 116,470,765 (GRCm39) L65* probably null Het
Or13j1 A T 4: 43,706,518 (GRCm39) F17I probably damaging Het
Or2y12 A G 11: 49,426,242 (GRCm39) T77A possibly damaging Het
Or52e2 C A 7: 102,804,593 (GRCm39) M120I probably damaging Het
Or55b4 G A 7: 102,134,192 (GRCm39) T45I probably benign Het
Pask A T 1: 93,262,350 (GRCm39) L170H probably damaging Het
Piezo2 A T 18: 63,163,480 (GRCm39) I2146N possibly damaging Het
Pitpnm2 A T 5: 124,274,449 (GRCm39) M220K probably damaging Het
Pkhd1l1 A G 15: 44,368,705 (GRCm39) D841G probably benign Het
Pla2g3 C T 11: 3,440,827 (GRCm39) T264M probably benign Het
Plcb1 A T 2: 135,104,165 (GRCm39) Y278F probably benign Het
Prkdc T C 16: 15,533,899 (GRCm39) L1579P probably damaging Het
Rad51ap2 T A 12: 11,507,516 (GRCm39) N479K probably benign Het
Rasgrf2 T C 13: 92,044,155 (GRCm39) H966R probably damaging Het
Rbm27 A G 18: 42,471,509 (GRCm39) D996G probably damaging Het
Rif1 A C 2: 52,010,321 (GRCm39) K2337T probably damaging Het
Rpl13a G T 7: 44,775,385 (GRCm39) N442K probably benign Het
Serpini2 T A 3: 75,153,820 (GRCm39) T380S possibly damaging Het
Setbp1 A T 18: 78,901,214 (GRCm39) W818R probably damaging Het
Siae T A 9: 37,542,869 (GRCm39) C185S probably benign Het
Slc15a2 A G 16: 36,572,659 (GRCm39) V674A probably damaging Het
Slc40a1 A T 1: 45,950,516 (GRCm39) M312K possibly damaging Het
Slc46a3 A G 5: 147,823,566 (GRCm39) L92S probably damaging Het
Son T C 16: 91,452,587 (GRCm39) S445P probably damaging Het
Syne2 T C 12: 76,090,484 (GRCm39) F351L probably benign Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Tmem248 T A 5: 130,269,238 (GRCm39) L277H probably damaging Het
Unc13c T A 9: 73,838,757 (GRCm39) H698L probably benign Het
Ushbp1 A G 8: 71,847,799 (GRCm39) V24A possibly damaging Het
Usp24 G T 4: 106,256,309 (GRCm39) probably null Het
Vmn2r50 T G 7: 9,786,970 (GRCm39) I46L probably benign Het
Zfp106 T C 2: 120,365,208 (GRCm39) T423A probably benign Het
Zfp663 T A 2: 165,195,113 (GRCm39) T369S probably benign Het
Zmynd11 T C 13: 9,740,953 (GRCm39) T382A 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
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
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'- TGCTGGTTATGATTATAGAAACAGTC -3'
(R):5'- GCCTCCCAAACATTCCTGC -3'

Sequencing Primer
(F):5'- ATCCATTCTTCAGACATGTGGG -3'
(R):5'- GCCTCCAAACTTCAGGTTTTTCAG -3'
Posted On 2016-06-21