Incidental Mutation 'R4747:Ercc6'
ID 357219
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 042029-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.422) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 32235478-32302947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32291864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1076 (V1076A)
Ref Sequence ENSEMBL: ENSMUSP00000066256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066807]
AlphaFold F8VPZ5
Predicted Effect probably benign
Transcript: ENSMUST00000066807
AA Change: V1076A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: V1076A

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Acadvl G T 11: 69,903,334 (GRCm39) N340K probably damaging Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Fgd4 T C 16: 16,241,793 (GRCm39) Y677C probably damaging Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Gm12258 C A 11: 58,750,422 (GRCm39) H532Q probably damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Hfm1 G A 5: 107,065,389 (GRCm39) H97Y probably benign Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
Sptbn2 T A 19: 4,798,182 (GRCm39) M1969K probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttc6 A T 12: 57,721,478 (GRCm39) D989V possibly damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGCTGTGTTCTCCCTATTACAG -3'
(R):5'- AAGAACCCTGCTTCTCACTGG -3'

Sequencing Primer
(F):5'- TTACAGGAACGGGCTCCAGTATTC -3'
(R):5'- GTGCTTGCCTCCACTGGTG -3'
Posted On 2015-11-11