Incidental Mutation 'R1753:Ercc6'
ID 193778
Institutional Source Beutler Lab
Gene Symbol Ercc6
Ensembl Gene ENSMUSG00000054051
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 6
Synonyms CS group B correcting gene, C130058G22Rik, CSB
MMRRC Submission 039785-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.615) question?
Stock # R1753 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 32513521-32580990 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32576999 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1448 (V1448A)
Ref Sequence ENSEMBL: ENSMUSP00000066256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066807]
AlphaFold F8VPZ5
Predicted Effect probably benign
Transcript: ENSMUST00000066807
AA Change: V1448A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: V1448A

DomainStartEndE-ValueType
PDB:4CVO|A 82 160 1e-36 PDB
low complexity region 286 299 N/A INTRINSIC
low complexity region 361 390 N/A INTRINSIC
low complexity region 422 434 N/A INTRINSIC
low complexity region 460 469 N/A INTRINSIC
low complexity region 479 491 N/A INTRINSIC
DEXDc 499 699 8.34e-33 SMART
Blast:DEXDc 720 821 7e-56 BLAST
HELICc 865 948 1.41e-21 SMART
low complexity region 1364 1377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000228549
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,973,716 (GRCm38) F409I probably benign Het
Adamts19 A C 18: 59,007,372 (GRCm38) I848L possibly damaging Het
Adamts5 T C 16: 85,899,352 (GRCm38) S306G probably damaging Het
Adamts8 T G 9: 30,954,614 (GRCm38) I486S probably benign Het
Adgrg5 T C 8: 94,942,052 (GRCm38) F499L possibly damaging Het
Akr1c21 T A 13: 4,577,135 (GRCm38) C145* probably null Het
Anp32b T G 4: 46,460,241 (GRCm38) probably null Het
Arhgap31 A G 16: 38,601,612 (GRCm38) V1364A possibly damaging Het
C2cd6 T C 1: 59,094,833 (GRCm38) R10G possibly damaging Het
Cacna2d1 A G 5: 16,302,354 (GRCm38) E367G possibly damaging Het
Ccdc81 C T 7: 89,866,561 (GRCm38) E637K probably benign Het
Cd2 A T 3: 101,287,499 (GRCm38) M91K possibly damaging Het
Cdc16 C A 8: 13,764,688 (GRCm38) Y157* probably null Het
Celsr3 G T 9: 108,831,857 (GRCm38) V1301F probably damaging Het
Cep164 C T 9: 45,792,937 (GRCm38) G961S probably damaging Het
Cep290 T C 10: 100,513,981 (GRCm38) V630A probably benign Het
Chd5 C T 4: 152,378,815 (GRCm38) S1451F probably damaging Het
Cldn23 A C 8: 35,825,986 (GRCm38) L116R possibly damaging Het
Cngb1 A T 8: 95,297,773 (GRCm38) probably benign Het
Cpb1 G T 3: 20,266,241 (GRCm38) N151K possibly damaging Het
Cpn2 A G 16: 30,260,100 (GRCm38) F261S probably damaging Het
Crlf3 A C 11: 80,057,872 (GRCm38) V249G probably damaging Het
Csmd1 A T 8: 16,157,120 (GRCm38) Y1298* probably null Het
Cstf2t C A 19: 31,083,685 (GRCm38) P207Q possibly damaging Het
Cym A C 3: 107,213,425 (GRCm38) L288R possibly damaging Het
Cyp2j12 C T 4: 96,121,432 (GRCm38) probably null Het
Dlx6 C T 6: 6,863,665 (GRCm38) Q96* probably null Het
Dnah7b T C 1: 46,322,335 (GRCm38) F3465S probably damaging Het
Dnmt3a A T 12: 3,873,342 (GRCm38) M181L possibly damaging Het
Duox1 T A 2: 122,333,429 (GRCm38) M859K probably damaging Het
Eif2b4 A T 5: 31,192,940 (GRCm38) S13T probably benign Het
Esp24 A G 17: 39,040,002 (GRCm38) E31G possibly damaging Het
F2rl2 T A 13: 95,701,461 (GRCm38) M338K probably benign Het
Fgfbp1 A C 5: 43,979,923 (GRCm38) L9R possibly damaging Het
Gal3st2b A T 1: 93,940,616 (GRCm38) N188Y probably damaging Het
Gpr179 G C 11: 97,346,578 (GRCm38) C372W probably damaging Het
Grn T G 11: 102,433,267 (GRCm38) C61G probably damaging Het
Herc1 T C 9: 66,502,084 (GRCm38) probably null Het
Herc1 T G 9: 66,469,010 (GRCm38) C3371G probably damaging Het
Hmcn1 C T 1: 150,586,468 (GRCm38) G5153D possibly damaging Het
Ifi35 A T 11: 101,456,635 (GRCm38) R31W probably damaging Het
Ifit1bl1 T A 19: 34,593,860 (GRCm38) H399L probably benign Het
Irx3 G A 8: 91,800,734 (GRCm38) P114L probably damaging Het
Kat6a T A 8: 22,935,797 (GRCm38) D1119E probably benign Het
Kmt2d G T 15: 98,843,482 (GRCm38) probably benign Het
Kng1 A T 16: 23,079,119 (GRCm38) H423L possibly damaging Het
Lrp2 T A 2: 69,496,489 (GRCm38) Q1746L possibly damaging Het
Lrrc29 A T 8: 105,313,192 (GRCm38) V517E probably damaging Het
Lrrc63 A T 14: 75,086,344 (GRCm38) probably null Het
Mad2l1 T A 6: 66,539,813 (GRCm38) V163E possibly damaging Het
Map3k19 A G 1: 127,822,680 (GRCm38) M978T probably benign Het
Mon1a A C 9: 107,901,363 (GRCm38) N262T probably damaging Het
Mpo A G 11: 87,795,881 (GRCm38) N85D probably benign Het
Mpp4 T C 1: 59,144,810 (GRCm38) D244G probably null Het
Mstn A G 1: 53,066,558 (GRCm38) Y353C probably damaging Het
Mx1 T A 16: 97,454,158 (GRCm38) N232Y probably damaging Het
Mycs T C X: 5,468,103 (GRCm38) R308G probably benign Het
Myh11 A T 16: 14,277,870 (GRCm38) D9E probably benign Het
Nfe2l3 A T 6: 51,433,412 (GRCm38) Q169L probably null Het
Nr5a1 G T 2: 38,708,419 (GRCm38) T122N possibly damaging Het
Nras A G 3: 103,058,979 (GRCm38) T20A probably damaging Het
Obp2b T A 2: 25,738,640 (GRCm38) probably null Het
Olfr1109 T C 2: 87,093,227 (GRCm38) T57A probably damaging Het
Olfr1143 T A 2: 87,802,762 (GRCm38) F124L probably benign Het
Olfr1410 G A 1: 92,608,400 (GRCm38) V188M probably benign Het
Olfr365 A G 2: 37,201,427 (GRCm38) Y62C probably damaging Het
Olfr577 T C 7: 102,973,056 (GRCm38) N312S probably benign Het
Pcdh17 A T 14: 84,477,654 (GRCm38) T920S probably benign Het
Pcdh9 T C 14: 93,887,225 (GRCm38) D503G probably benign Het
Pcdhb12 C T 18: 37,436,671 (GRCm38) T290I probably damaging Het
Pde6b C A 5: 108,388,691 (GRCm38) C84* probably null Het
Pex1 A T 5: 3,630,044 (GRCm38) N914I probably damaging Het
Pign A G 1: 105,589,317 (GRCm38) V528A possibly damaging Het
Pkhd1 T G 1: 20,533,905 (GRCm38) D1187A possibly damaging Het
Ppip5k1 T C 2: 121,342,631 (GRCm38) K489E probably damaging Het
Prob1 T C 18: 35,653,252 (GRCm38) T650A possibly damaging Het
Radil T C 5: 142,495,336 (GRCm38) Y572C probably damaging Het
Rapgef2 A G 3: 79,088,791 (GRCm38) I555T possibly damaging Het
Rgs5 G A 1: 169,682,817 (GRCm38) probably null Het
Rnaset2b G A 17: 6,981,107 (GRCm38) probably null Het
S1pr1 A G 3: 115,711,938 (GRCm38) S336P probably benign Het
Slc24a5 A G 2: 125,083,195 (GRCm38) E252G possibly damaging Het
Slc34a2 A T 5: 53,061,391 (GRCm38) I184F probably benign Het
Slc35a3 A G 3: 116,677,948 (GRCm38) V224A possibly damaging Het
Slc39a9 A G 12: 80,677,202 (GRCm38) H211R probably damaging Het
Slu7 A G 11: 43,439,268 (GRCm38) N174S probably benign Het
Smarcd3 A T 5: 24,595,822 (GRCm38) Y131* probably null Het
Syne1 A G 10: 5,367,621 (GRCm38) M491T probably benign Het
Tars G A 15: 11,394,243 (GRCm38) Q103* probably null Het
Tmem132d C A 5: 127,789,855 (GRCm38) E660D probably benign Het
Ttn T A 2: 76,752,261 (GRCm38) M22763L probably benign Het
Ttn T C 2: 76,812,972 (GRCm38) E13201G probably damaging Het
Ttn T C 2: 76,745,043 (GRCm38) T16842A probably damaging Het
Ubp1 A T 9: 113,955,969 (GRCm38) I117L possibly damaging Het
Usp24 T A 4: 106,377,559 (GRCm38) H954Q probably benign Het
Vmn1r174 G A 7: 23,754,197 (GRCm38) R96H probably benign Het
Vmn2r63 G A 7: 42,928,245 (GRCm38) Q290* probably null Het
Vnn3 T C 10: 23,865,820 (GRCm38) I341T probably benign Het
Wbp2nl A G 15: 82,305,744 (GRCm38) T46A probably damaging Het
Wdr48 G T 9: 119,924,247 (GRCm38) E625* probably null Het
Wdr6 C T 9: 108,575,164 (GRCm38) V507I probably damaging Het
Zp2 A T 7: 120,138,105 (GRCm38) W287R probably benign Het
Other mutations in Ercc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ercc6 APN 14 32,568,072 (GRCm38) missense probably damaging 1.00
IGL00796:Ercc6 APN 14 32,570,002 (GRCm38) missense probably benign 0.01
IGL00916:Ercc6 APN 14 32,562,655 (GRCm38) intron probably benign
IGL01743:Ercc6 APN 14 32,552,604 (GRCm38) missense probably damaging 1.00
IGL01802:Ercc6 APN 14 32,562,574 (GRCm38) missense probably damaging 0.99
IGL01886:Ercc6 APN 14 32,569,580 (GRCm38) missense possibly damaging 0.90
IGL02100:Ercc6 APN 14 32,517,095 (GRCm38) missense probably benign 0.00
IGL02115:Ercc6 APN 14 32,576,993 (GRCm38) missense probably damaging 1.00
IGL02755:Ercc6 APN 14 32,575,748 (GRCm38) splice site probably benign
IGL02964:Ercc6 APN 14 32,570,103 (GRCm38) missense probably benign 0.00
IGL02998:Ercc6 APN 14 32,557,857 (GRCm38) missense probably benign 0.05
IGL03150:Ercc6 APN 14 32,558,574 (GRCm38) missense probably damaging 0.96
R0152:Ercc6 UTSW 14 32,546,905 (GRCm38) critical splice donor site probably benign
R0519:Ercc6 UTSW 14 32,526,842 (GRCm38) missense probably damaging 1.00
R0591:Ercc6 UTSW 14 32,558,016 (GRCm38) splice site probably benign
R0894:Ercc6 UTSW 14 32,517,028 (GRCm38) missense probably benign 0.05
R0946:Ercc6 UTSW 14 32,552,621 (GRCm38) missense probably benign 0.08
R1313:Ercc6 UTSW 14 32,552,720 (GRCm38) splice site probably benign
R1506:Ercc6 UTSW 14 32,569,864 (GRCm38) missense probably benign 0.01
R1528:Ercc6 UTSW 14 32,519,022 (GRCm38) missense probably damaging 0.98
R1711:Ercc6 UTSW 14 32,526,176 (GRCm38) missense probably damaging 1.00
R1795:Ercc6 UTSW 14 32,517,028 (GRCm38) missense probably benign 0.05
R1843:Ercc6 UTSW 14 32,546,820 (GRCm38) missense probably damaging 0.99
R1853:Ercc6 UTSW 14 32,576,816 (GRCm38) missense possibly damaging 0.86
R1859:Ercc6 UTSW 14 32,526,778 (GRCm38) missense probably damaging 1.00
R1912:Ercc6 UTSW 14 32,576,803 (GRCm38) missense probably damaging 1.00
R2308:Ercc6 UTSW 14 32,566,409 (GRCm38) missense possibly damaging 0.70
R2322:Ercc6 UTSW 14 32,526,317 (GRCm38) missense probably damaging 1.00
R2386:Ercc6 UTSW 14 32,541,359 (GRCm38) splice site probably null
R4170:Ercc6 UTSW 14 32,566,797 (GRCm38) missense probably damaging 1.00
R4369:Ercc6 UTSW 14 32,517,207 (GRCm38) missense probably damaging 0.96
R4389:Ercc6 UTSW 14 32,574,908 (GRCm38) nonsense probably null
R4747:Ercc6 UTSW 14 32,569,907 (GRCm38) missense probably benign 0.00
R4811:Ercc6 UTSW 14 32,574,929 (GRCm38) missense probably benign 0.20
R4840:Ercc6 UTSW 14 32,541,296 (GRCm38) missense probably damaging 1.00
R4973:Ercc6 UTSW 14 32,574,902 (GRCm38) missense probably damaging 1.00
R5068:Ercc6 UTSW 14 32,570,063 (GRCm38) missense probably benign 0.01
R5069:Ercc6 UTSW 14 32,570,063 (GRCm38) missense probably benign 0.01
R5070:Ercc6 UTSW 14 32,570,063 (GRCm38) missense probably benign 0.01
R5093:Ercc6 UTSW 14 32,567,522 (GRCm38) missense probably damaging 1.00
R5265:Ercc6 UTSW 14 32,569,623 (GRCm38) missense probably benign 0.01
R5272:Ercc6 UTSW 14 32,519,028 (GRCm38) nonsense probably null
R5499:Ercc6 UTSW 14 32,516,959 (GRCm38) start codon destroyed probably null 0.98
R5795:Ercc6 UTSW 14 32,526,352 (GRCm38) missense probably damaging 0.98
R6258:Ercc6 UTSW 14 32,557,856 (GRCm38) missense probably benign 0.00
R6260:Ercc6 UTSW 14 32,557,856 (GRCm38) missense probably benign 0.00
R6267:Ercc6 UTSW 14 32,526,403 (GRCm38) nonsense probably null
R6291:Ercc6 UTSW 14 32,569,986 (GRCm38) missense probably benign 0.01
R6296:Ercc6 UTSW 14 32,526,403 (GRCm38) nonsense probably null
R6361:Ercc6 UTSW 14 32,517,110 (GRCm38) missense probably benign 0.00
R6500:Ercc6 UTSW 14 32,526,823 (GRCm38) missense probably damaging 0.96
R6555:Ercc6 UTSW 14 32,517,107 (GRCm38) missense probably benign 0.15
R6724:Ercc6 UTSW 14 32,566,331 (GRCm38) missense probably benign 0.01
R6925:Ercc6 UTSW 14 32,562,608 (GRCm38) missense probably damaging 0.99
R7143:Ercc6 UTSW 14 32,570,305 (GRCm38) missense probably damaging 1.00
R7327:Ercc6 UTSW 14 32,526,404 (GRCm38) missense probably benign 0.19
R7396:Ercc6 UTSW 14 32,569,805 (GRCm38) missense probably benign 0.00
R7529:Ercc6 UTSW 14 32,560,729 (GRCm38) nonsense probably null
R7609:Ercc6 UTSW 14 32,566,361 (GRCm38) missense probably benign 0.11
R7802:Ercc6 UTSW 14 32,517,303 (GRCm38) missense probably damaging 1.00
R7854:Ercc6 UTSW 14 32,566,292 (GRCm38) missense probably damaging 1.00
R7995:Ercc6 UTSW 14 32,562,569 (GRCm38) missense probably damaging 0.99
R8181:Ercc6 UTSW 14 32,557,948 (GRCm38) missense probably damaging 1.00
R8320:Ercc6 UTSW 14 32,521,015 (GRCm38) missense probably benign 0.01
R8388:Ercc6 UTSW 14 32,570,340 (GRCm38) utr 3 prime probably benign
R8479:Ercc6 UTSW 14 32,526,406 (GRCm38) missense probably benign 0.00
R8831:Ercc6 UTSW 14 32,560,827 (GRCm38) critical splice donor site probably null
R8849:Ercc6 UTSW 14 32,569,608 (GRCm38) missense probably damaging 1.00
R8912:Ercc6 UTSW 14 32,526,254 (GRCm38) missense probably benign 0.40
R9210:Ercc6 UTSW 14 32,569,865 (GRCm38) missense probably benign 0.00
R9309:Ercc6 UTSW 14 32,518,947 (GRCm38) missense probably damaging 1.00
R9499:Ercc6 UTSW 14 32,562,568 (GRCm38) missense probably damaging 1.00
R9552:Ercc6 UTSW 14 32,562,568 (GRCm38) missense probably damaging 1.00
R9562:Ercc6 UTSW 14 32,574,967 (GRCm38) missense probably damaging 1.00
R9688:Ercc6 UTSW 14 32,575,798 (GRCm38) missense probably benign
R9699:Ercc6 UTSW 14 32,560,746 (GRCm38) missense probably damaging 1.00
R9743:Ercc6 UTSW 14 32,576,986 (GRCm38) missense probably benign 0.01
Z1176:Ercc6 UTSW 14 32,526,487 (GRCm38) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AACATCTTGCTGAGGCTGCTGC -3'
(R):5'- TGGGTCAGAAAACCCATGCTGTATC -3'

Sequencing Primer
(F):5'- CTGGTGGACATGAGGAACTT -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-05-23