Incidental Mutation 'R7802:Ercc6'
ID 600584
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 045857-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # R7802 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 32235478-32302947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32239260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 116 (A116E)
Ref Sequence ENSEMBL: ENSMUSP00000066256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066807]
AlphaFold F8VPZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000066807
AA Change: A116E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: A116E

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (35/36)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,650,438 (GRCm39) V12A probably benign Het
Bahcc1 T C 11: 120,165,518 (GRCm39) F983S probably benign Het
Cecr2 T C 6: 120,720,808 (GRCm39) I312T probably benign Het
Col6a2 A T 10: 76,439,632 (GRCm39) W711R probably damaging Het
Epb41l4a A G 18: 33,961,227 (GRCm39) F436L probably benign Het
Epha1 C T 6: 42,338,875 (GRCm39) R641Q possibly damaging Het
Ermard A G 17: 15,281,423 (GRCm39) E611G probably benign Het
Galnt16 T G 12: 80,628,021 (GRCm39) I239S probably damaging Het
Gna15 T C 10: 81,350,175 (GRCm39) R76G probably benign Het
Herc2 A G 7: 55,813,838 (GRCm39) Y2657C probably damaging Het
Mapkapk2 T C 1: 130,984,639 (GRCm39) I238V possibly damaging Het
Med13l T C 5: 118,866,655 (GRCm39) S570P probably benign Het
Mrap C T 16: 90,546,247 (GRCm39) T112M probably benign Het
Nadsyn1 T C 7: 143,359,763 (GRCm39) Q403R probably benign Het
Nostrin T C 2: 69,019,356 (GRCm39) V467A probably benign Het
Palb2 A T 7: 121,710,119 (GRCm39) probably null Het
Parp16 A G 9: 65,137,179 (GRCm39) N135S probably benign Het
Pcnt A T 10: 76,211,137 (GRCm39) probably null Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Psmc5 T C 11: 106,152,538 (GRCm39) probably null Het
Rsf1 G T 7: 97,310,979 (GRCm39) V570F Het
Rundc3a A G 11: 102,290,835 (GRCm39) E306G probably benign Het
Serpinb6b C T 13: 33,155,579 (GRCm39) Het
Setx A G 2: 29,037,033 (GRCm39) T1173A probably benign Het
Slamf8 A G 1: 172,415,677 (GRCm39) S54P probably damaging Het
Slc5a2 A C 7: 127,870,970 (GRCm39) D570A possibly damaging Het
Slco5a1 T A 1: 13,060,700 (GRCm39) Q7L possibly damaging Het
Stt3b G T 9: 115,105,949 (GRCm39) S175R probably damaging Het
Taar6 T A 10: 23,861,151 (GRCm39) I132F probably benign Het
Tenm3 A G 8: 48,689,500 (GRCm39) V2029A probably damaging Het
Tgm4 A G 9: 122,880,401 (GRCm39) probably benign Het
Tmt1a A T 15: 100,203,182 (GRCm39) N152I possibly damaging Het
Togaram1 T A 12: 65,013,758 (GRCm39) C336* probably null Het
Ttn G A 2: 76,768,015 (GRCm39) T3028M unknown Het
Vmn2r25 A T 6: 123,828,791 (GRCm39) I161N possibly damaging Het
Vwf T C 6: 125,643,640 (GRCm39) C2394R Het
Other mutations in Ercc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ercc6 APN 14 32,290,029 (GRCm39) missense probably damaging 1.00
IGL00796:Ercc6 APN 14 32,291,959 (GRCm39) missense probably benign 0.01
IGL00916:Ercc6 APN 14 32,284,612 (GRCm39) intron probably benign
IGL01743:Ercc6 APN 14 32,274,561 (GRCm39) missense probably damaging 1.00
IGL01802:Ercc6 APN 14 32,284,531 (GRCm39) missense probably damaging 0.99
IGL01886:Ercc6 APN 14 32,291,537 (GRCm39) missense possibly damaging 0.90
IGL02100:Ercc6 APN 14 32,239,052 (GRCm39) missense probably benign 0.00
IGL02115:Ercc6 APN 14 32,298,950 (GRCm39) missense probably damaging 1.00
IGL02755:Ercc6 APN 14 32,297,705 (GRCm39) splice site probably benign
IGL02964:Ercc6 APN 14 32,292,060 (GRCm39) missense probably benign 0.00
IGL02998:Ercc6 APN 14 32,279,814 (GRCm39) missense probably benign 0.05
IGL03150:Ercc6 APN 14 32,280,531 (GRCm39) missense probably damaging 0.96
R0152:Ercc6 UTSW 14 32,268,862 (GRCm39) critical splice donor site probably benign
R0519:Ercc6 UTSW 14 32,248,799 (GRCm39) missense probably damaging 1.00
R0591:Ercc6 UTSW 14 32,279,973 (GRCm39) splice site probably benign
R0894:Ercc6 UTSW 14 32,238,985 (GRCm39) missense probably benign 0.05
R0946:Ercc6 UTSW 14 32,274,578 (GRCm39) missense probably benign 0.08
R1313:Ercc6 UTSW 14 32,274,677 (GRCm39) splice site probably benign
R1506:Ercc6 UTSW 14 32,291,821 (GRCm39) missense probably benign 0.01
R1528:Ercc6 UTSW 14 32,240,979 (GRCm39) missense probably damaging 0.98
R1711:Ercc6 UTSW 14 32,248,133 (GRCm39) missense probably damaging 1.00
R1753:Ercc6 UTSW 14 32,298,956 (GRCm39) missense probably benign
R1795:Ercc6 UTSW 14 32,238,985 (GRCm39) missense probably benign 0.05
R1843:Ercc6 UTSW 14 32,268,777 (GRCm39) missense probably damaging 0.99
R1853:Ercc6 UTSW 14 32,298,773 (GRCm39) missense possibly damaging 0.86
R1859:Ercc6 UTSW 14 32,248,735 (GRCm39) missense probably damaging 1.00
R1912:Ercc6 UTSW 14 32,298,760 (GRCm39) missense probably damaging 1.00
R2308:Ercc6 UTSW 14 32,288,366 (GRCm39) missense possibly damaging 0.70
R2322:Ercc6 UTSW 14 32,248,274 (GRCm39) missense probably damaging 1.00
R2386:Ercc6 UTSW 14 32,263,316 (GRCm39) splice site probably null
R4170:Ercc6 UTSW 14 32,288,754 (GRCm39) missense probably damaging 1.00
R4369:Ercc6 UTSW 14 32,239,164 (GRCm39) missense probably damaging 0.96
R4389:Ercc6 UTSW 14 32,296,865 (GRCm39) nonsense probably null
R4747:Ercc6 UTSW 14 32,291,864 (GRCm39) missense probably benign 0.00
R4811:Ercc6 UTSW 14 32,296,886 (GRCm39) missense probably benign 0.20
R4840:Ercc6 UTSW 14 32,263,253 (GRCm39) missense probably damaging 1.00
R4973:Ercc6 UTSW 14 32,296,859 (GRCm39) missense probably damaging 1.00
R5068:Ercc6 UTSW 14 32,292,020 (GRCm39) missense probably benign 0.01
R5069:Ercc6 UTSW 14 32,292,020 (GRCm39) missense probably benign 0.01
R5070:Ercc6 UTSW 14 32,292,020 (GRCm39) missense probably benign 0.01
R5093:Ercc6 UTSW 14 32,289,479 (GRCm39) missense probably damaging 1.00
R5265:Ercc6 UTSW 14 32,291,580 (GRCm39) missense probably benign 0.01
R5272:Ercc6 UTSW 14 32,240,985 (GRCm39) nonsense probably null
R5499:Ercc6 UTSW 14 32,238,916 (GRCm39) start codon destroyed probably null 0.98
R5795:Ercc6 UTSW 14 32,248,309 (GRCm39) missense probably damaging 0.98
R6258:Ercc6 UTSW 14 32,279,813 (GRCm39) missense probably benign 0.00
R6260:Ercc6 UTSW 14 32,279,813 (GRCm39) missense probably benign 0.00
R6267:Ercc6 UTSW 14 32,248,360 (GRCm39) nonsense probably null
R6291:Ercc6 UTSW 14 32,291,943 (GRCm39) missense probably benign 0.01
R6296:Ercc6 UTSW 14 32,248,360 (GRCm39) nonsense probably null
R6361:Ercc6 UTSW 14 32,239,067 (GRCm39) missense probably benign 0.00
R6500:Ercc6 UTSW 14 32,248,780 (GRCm39) missense probably damaging 0.96
R6555:Ercc6 UTSW 14 32,239,064 (GRCm39) missense probably benign 0.15
R6724:Ercc6 UTSW 14 32,288,288 (GRCm39) missense probably benign 0.01
R6925:Ercc6 UTSW 14 32,284,565 (GRCm39) missense probably damaging 0.99
R7143:Ercc6 UTSW 14 32,292,262 (GRCm39) missense probably damaging 1.00
R7327:Ercc6 UTSW 14 32,248,361 (GRCm39) missense probably benign 0.19
R7396:Ercc6 UTSW 14 32,291,762 (GRCm39) missense probably benign 0.00
R7529:Ercc6 UTSW 14 32,282,686 (GRCm39) nonsense probably null
R7609:Ercc6 UTSW 14 32,288,318 (GRCm39) missense probably benign 0.11
R7854:Ercc6 UTSW 14 32,288,249 (GRCm39) missense probably damaging 1.00
R7995:Ercc6 UTSW 14 32,284,526 (GRCm39) missense probably damaging 0.99
R8181:Ercc6 UTSW 14 32,279,905 (GRCm39) missense probably damaging 1.00
R8320:Ercc6 UTSW 14 32,242,972 (GRCm39) missense probably benign 0.01
R8388:Ercc6 UTSW 14 32,292,297 (GRCm39) utr 3 prime probably benign
R8479:Ercc6 UTSW 14 32,248,363 (GRCm39) missense probably benign 0.00
R8831:Ercc6 UTSW 14 32,282,784 (GRCm39) critical splice donor site probably null
R8849:Ercc6 UTSW 14 32,291,565 (GRCm39) missense probably damaging 1.00
R8912:Ercc6 UTSW 14 32,248,211 (GRCm39) missense probably benign 0.40
R9210:Ercc6 UTSW 14 32,291,822 (GRCm39) missense probably benign 0.00
R9309:Ercc6 UTSW 14 32,240,904 (GRCm39) missense probably damaging 1.00
R9499:Ercc6 UTSW 14 32,284,525 (GRCm39) missense probably damaging 1.00
R9552:Ercc6 UTSW 14 32,284,525 (GRCm39) missense probably damaging 1.00
R9562:Ercc6 UTSW 14 32,296,924 (GRCm39) missense probably damaging 1.00
R9688:Ercc6 UTSW 14 32,297,755 (GRCm39) missense probably benign
R9699:Ercc6 UTSW 14 32,282,703 (GRCm39) missense probably damaging 1.00
R9743:Ercc6 UTSW 14 32,298,943 (GRCm39) missense probably benign 0.01
Z1176:Ercc6 UTSW 14 32,248,444 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TGTGTGTTGGCAGCCACAAG -3'
(R):5'- ATAGGCAATGTTATTCCTCCAGG -3'

Sequencing Primer
(F):5'- CATCAGATCCCTGCAGTT -3'
(R):5'- CCTACTATTTCCCAAATGAGAGGTTC -3'
Posted On 2019-11-26