Incidental Mutation 'IGL03150:Ercc6'
ID 411076
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # IGL03150
Quality Score
Status
Chromosome 14
Chromosomal Location 32235478-32302947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32280531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 709 (M709I)
Ref Sequence ENSEMBL: ENSMUSP00000066256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066807]
AlphaFold F8VPZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000066807
AA Change: M709I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: M709I

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 noncoding transcript
Transcript: ENSMUST00000227434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228035
Predicted Effect probably benign
Transcript: ENSMUST00000228549
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,996,596 (GRCm39) S399L probably damaging Het
Bltp1 T C 3: 37,002,215 (GRCm39) S1387P probably damaging Het
Corin T C 5: 72,460,201 (GRCm39) D886G probably damaging Het
Cracd G A 5: 77,015,097 (GRCm39) E57K probably damaging Het
Eif2ak3 A T 6: 70,869,420 (GRCm39) K702N possibly damaging Het
Foxa1 T A 12: 57,589,082 (GRCm39) E379D probably benign Het
Fscb C T 12: 64,519,204 (GRCm39) G754D unknown Het
Gzmb C T 14: 56,497,839 (GRCm39) V134I probably benign Het
Iho1 G T 9: 108,282,155 (GRCm39) T511K probably damaging Het
Muc5b A G 7: 141,419,246 (GRCm39) T4010A possibly damaging Het
Necab3 A G 2: 154,396,662 (GRCm39) Y55H probably damaging Het
Nova1 T C 12: 46,747,455 (GRCm39) N274S possibly damaging Het
Nup54 C A 5: 92,576,023 (GRCm39) G156V probably damaging Het
Obscn A T 11: 58,942,549 (GRCm39) C4317S probably damaging Het
Papln T A 12: 83,829,758 (GRCm39) W960R probably damaging Het
Pax4 C A 6: 28,444,338 (GRCm39) G239W probably null Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ptprj A G 2: 90,290,955 (GRCm39) S502P probably damaging Het
Slit3 A G 11: 35,399,084 (GRCm39) R150G possibly damaging Het
Srgap2 A T 1: 131,238,338 (GRCm39) V658E probably damaging Het
Taar7e A T 10: 23,913,528 (GRCm39) D6V probably benign Het
Trim25 T C 11: 88,890,831 (GRCm39) C173R probably damaging Het
Trmt1l T C 1: 151,329,643 (GRCm39) S529P probably benign Het
Ubn2 C T 6: 38,440,649 (GRCm39) P174S probably benign Het
Ubox5 A G 2: 130,442,060 (GRCm39) V209A probably benign Het
Vmn2r72 A G 7: 85,400,384 (GRCm39) F222L probably damaging Het
Xpot C T 10: 121,445,091 (GRCm39) A374T probably benign Het
Zfp451 A G 1: 33,816,535 (GRCm39) C472R probably damaging Het
Zfp777 A G 6: 48,021,059 (GRCm39) W232R probably damaging 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
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
R7802:Ercc6 UTSW 14 32,239,260 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02