Incidental Mutation 'IGL01886:Ercc6'
ID 179145
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 # IGL01886
Quality Score
Status
Chromosome 14
Chromosomal Location 32235478-32302947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32291537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 994 (S994T)
Ref Sequence ENSEMBL: ENSMUSP00000066256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066807]
AlphaFold F8VPZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000066807
AA Change: S994T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: S994T

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,625,592 (GRCm39) V136M probably benign Het
Ankrd34c A T 9: 89,612,318 (GRCm39) L8M possibly damaging Het
Anks6 C A 4: 47,044,850 (GRCm39) W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 (GRCm39) N768K probably damaging Het
Clec7a A T 6: 129,440,140 (GRCm39) probably benign Het
Cyp3a13 G A 5: 137,897,082 (GRCm39) P411S probably damaging Het
Elavl2 A G 4: 91,152,330 (GRCm39) V129A probably damaging Het
Esco1 T A 18: 10,595,262 (GRCm39) K8I probably damaging Het
Esr1 T A 10: 4,806,861 (GRCm39) I259K probably damaging Het
Filip1l A G 16: 57,391,613 (GRCm39) I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Grin3a T A 4: 49,702,814 (GRCm39) I891F probably damaging Het
Kat7 T C 11: 95,196,959 (GRCm39) T27A probably benign Het
Kdm1a A G 4: 136,288,327 (GRCm39) probably null Het
Kifc5b T C 17: 27,151,091 (GRCm39) V663A probably damaging Het
Lama1 T G 17: 68,114,792 (GRCm39) S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 (GRCm39) V279I probably benign Het
Mast3 A T 8: 71,234,783 (GRCm39) L774Q possibly damaging Het
Med27 C A 2: 29,303,494 (GRCm39) P9Q probably damaging Het
Myo5a C A 9: 75,076,372 (GRCm39) probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb T C 2: 52,073,857 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,014,327 (GRCm39) T308A probably benign Het
Or1l4b A G 2: 37,036,521 (GRCm39) Y99C probably damaging Het
Or8d2b G T 9: 38,788,844 (GRCm39) C124F probably damaging Het
Orc1 T A 4: 108,461,154 (GRCm39) probably null Het
Pnkp G A 7: 44,511,631 (GRCm39) A76T probably damaging Het
Polr3h T C 15: 81,801,591 (GRCm39) E95G probably damaging Het
Prpf40b T A 15: 99,202,328 (GRCm39) M62K unknown Het
Prpf8 C A 11: 75,386,570 (GRCm39) Q1075K probably benign Het
Ptprg A G 14: 12,179,280 (GRCm38) K766E probably benign Het
Rabgap1l A T 1: 160,169,612 (GRCm39) N778K probably damaging Het
Riok3 T A 18: 12,272,442 (GRCm39) N204K probably damaging Het
Shank3 A G 15: 89,415,866 (GRCm39) K650E probably damaging Het
Sim1 T A 10: 50,860,411 (GRCm39) S758T probably damaging Het
Slu7 T G 11: 43,330,087 (GRCm39) N171K probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Sult6b2 A G 6: 142,735,852 (GRCm39) probably null Het
Taf6l C T 19: 8,755,450 (GRCm39) probably null Het
Ubtfl1 G A 9: 18,321,017 (GRCm39) V182M possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript 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
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
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 2014-05-07