Incidental Mutation 'R7710:Ercc8'
ID 594562
Institutional Source Beutler Lab
Gene Symbol Ercc8
Ensembl Gene ENSMUSG00000021694
Gene Name excision repaiross-complementing rodent repair deficiency, complementation group 8
Synonyms B130065P18Rik, 2810431L23Rik, 4631412O06Rik, 2410022P04Rik, Ckn1, Csa
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.282) question?
Stock # R7710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 108295265-108331898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108320397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 328 (A328T)
Ref Sequence ENSEMBL: ENSMUSP00000059211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054835] [ENSMUST00000123657] [ENSMUST00000133957] [ENSMUST00000142931] [ENSMUST00000152634]
AlphaFold Q8CFD5
Predicted Effect probably benign
Transcript: ENSMUST00000054835
AA Change: A328T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059211
Gene: ENSMUSG00000021694
AA Change: A328T

DomainStartEndE-ValueType
WD40 35 72 3.21e-1 SMART
WD40 81 128 9.75e-3 SMART
WD40 175 215 2.71e-10 SMART
WD40 234 273 9.24e-4 SMART
WD40 323 362 7.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123657
SMART Domains Protein: ENSMUSP00000117492
Gene: ENSMUSG00000021694

DomainStartEndE-ValueType
PDB:4A11|B 1 57 9e-32 PDB
Blast:WD40 31 57 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000133957
SMART Domains Protein: ENSMUSP00000116226
Gene: ENSMUSG00000021694

DomainStartEndE-ValueType
PDB:4A11|B 1 54 3e-30 PDB
Blast:WD40 28 54 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000142931
SMART Domains Protein: ENSMUSP00000118154
Gene: ENSMUSG00000021694

DomainStartEndE-ValueType
WD40 35 72 3.21e-1 SMART
WD40 81 128 9.75e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152634
SMART Domains Protein: ENSMUSP00000122802
Gene: ENSMUSG00000021694

DomainStartEndE-ValueType
PDB:4A11|B 1 57 9e-32 PDB
Blast:WD40 31 57 2e-11 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,150,810 (GRCm39) E151K Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Cacna2d4 A G 6: 119,251,200 (GRCm39) I463V probably benign Het
Calhm4 A T 10: 33,920,045 (GRCm39) M74K possibly damaging Het
Ccdc142 T C 6: 83,078,677 (GRCm39) S5P probably benign Het
Cd300ld C T 11: 114,875,038 (GRCm39) V199M probably damaging Het
Cep162 T C 9: 87,114,172 (GRCm39) Y300C probably damaging Het
Ces2h C T 8: 105,727,497 (GRCm39) Q5* probably null Het
Col9a3 C T 2: 180,251,158 (GRCm39) L310F probably damaging Het
Copa A G 1: 171,937,411 (GRCm39) D454G possibly damaging Het
Ctnnbip1 A C 4: 149,630,277 (GRCm39) M29L probably benign Het
Ctnnbl1 A G 2: 157,616,491 (GRCm39) D64G probably benign Het
Dcxr T A 11: 120,617,908 (GRCm39) T23S probably benign Het
Dennd1b T A 1: 138,990,670 (GRCm39) H211Q probably damaging Het
Fam217a T C 13: 35,095,111 (GRCm39) D216G possibly damaging Het
Fat2 T A 11: 55,201,589 (GRCm39) Y495F probably benign Het
Fbxw13 G A 9: 109,024,968 (GRCm39) S15F probably damaging Het
Fras1 T A 5: 96,792,962 (GRCm39) C964* probably null Het
Fshr T A 17: 89,292,683 (GRCm39) H665L probably benign Het
Gm10447 A T 11: 53,347,437 (GRCm39) C31S unknown Het
Gm13272 A T 4: 88,698,586 (GRCm39) Q167L probably benign Het
Gtpbp2 T C 17: 46,478,713 (GRCm39) I510T possibly damaging Het
Hps6 G A 19: 45,993,007 (GRCm39) A315T probably benign Het
Igfbp6 A C 15: 102,056,285 (GRCm39) T115P probably damaging Het
Ikzf4 A G 10: 128,468,610 (GRCm39) V623A possibly damaging Het
Il11ra1 T C 4: 41,764,846 (GRCm39) V100A probably benign Het
Ints1 T C 5: 139,756,840 (GRCm39) T493A probably benign Het
Itgax C T 7: 127,735,028 (GRCm39) T453I probably benign Het
Kras T C 6: 145,166,354 (GRCm39) T183A probably benign Het
Lhcgr T C 17: 89,050,210 (GRCm39) T439A probably damaging Het
Lrrn4 T C 2: 132,721,451 (GRCm39) H122R probably benign Het
Muc2 A T 7: 141,287,452 (GRCm39) R210S possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo18b T C 5: 113,022,891 (GRCm39) D167G unknown Het
Nedd8 G A 14: 55,909,446 (GRCm39) probably benign Het
Or5b94 A C 19: 12,652,340 (GRCm39) Y257S probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pbxip1 T A 3: 89,355,408 (GRCm39) D642E probably damaging Het
Pcdhb10 A T 18: 37,546,654 (GRCm39) R577* probably null Het
Pcna-ps2 T A 19: 9,261,489 (GRCm39) Y249* probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pla2g6 A T 15: 79,171,358 (GRCm39) V744E probably damaging Het
Ppfibp1 A G 6: 146,897,903 (GRCm39) I207V probably benign Het
Prr11 T C 11: 86,994,433 (GRCm39) D71G probably benign Het
Rnf150 A C 8: 83,590,781 (GRCm39) Y48S probably damaging Het
Rsf1 G A 7: 97,331,041 (GRCm39) G1237D Het
Rusc2 C T 4: 43,416,119 (GRCm39) T475I probably benign Het
Scgb1b20 T A 7: 33,072,867 (GRCm39) I25N probably damaging Het
Sdr39u1 T C 14: 56,137,116 (GRCm39) N65S probably benign Het
Sh3gl3 T C 7: 81,933,294 (GRCm39) V219A possibly damaging Het
Shcbp1 A G 8: 4,814,965 (GRCm39) F171S probably benign Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Slc12a4 C T 8: 106,672,203 (GRCm39) R868H possibly damaging Het
Smg6 T C 11: 74,821,445 (GRCm39) V572A probably benign Het
Syn3 A G 10: 86,243,534 (GRCm39) V135A probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Tmem253 A T 14: 52,254,608 (GRCm39) Q21L possibly damaging Het
Trpm3 G T 19: 22,896,154 (GRCm39) R997L probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Ugt1a9 A G 1: 87,998,831 (GRCm39) T94A probably benign Het
Vmn1r62 A G 7: 5,678,182 (GRCm39) probably benign Het
Vmn2r61 T C 7: 41,916,472 (GRCm39) C362R probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp94 T C 7: 24,003,107 (GRCm39) K112E probably benign Het
Zfp954 A T 7: 7,120,889 (GRCm39) V47E probably damaging Het
Other mutations in Ercc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Ercc8 APN 13 108,305,993 (GRCm39) missense probably damaging 1.00
IGL02074:Ercc8 APN 13 108,295,318 (GRCm39) unclassified probably benign
B5639:Ercc8 UTSW 13 108,297,257 (GRCm39) missense probably damaging 0.96
R0620:Ercc8 UTSW 13 108,310,595 (GRCm39) critical splice donor site probably null
R1909:Ercc8 UTSW 13 108,312,100 (GRCm39) nonsense probably null
R2509:Ercc8 UTSW 13 108,320,251 (GRCm39) splice site probably benign
R2967:Ercc8 UTSW 13 108,297,248 (GRCm39) missense probably damaging 1.00
R3857:Ercc8 UTSW 13 108,330,648 (GRCm39) missense possibly damaging 0.82
R4941:Ercc8 UTSW 13 108,297,301 (GRCm39) unclassified probably benign
R5585:Ercc8 UTSW 13 108,312,123 (GRCm39) missense probably damaging 0.99
R6023:Ercc8 UTSW 13 108,315,111 (GRCm39) missense probably damaging 1.00
R6363:Ercc8 UTSW 13 108,320,404 (GRCm39) missense probably damaging 1.00
R6483:Ercc8 UTSW 13 108,320,344 (GRCm39) missense probably damaging 0.99
R6825:Ercc8 UTSW 13 108,295,343 (GRCm39) missense probably damaging 0.97
R7151:Ercc8 UTSW 13 108,323,816 (GRCm39) critical splice donor site probably null
R7166:Ercc8 UTSW 13 108,305,967 (GRCm39) missense possibly damaging 0.94
R8395:Ercc8 UTSW 13 108,323,788 (GRCm39) nonsense probably null
R8678:Ercc8 UTSW 13 108,306,027 (GRCm39) critical splice donor site probably null
R8744:Ercc8 UTSW 13 108,320,307 (GRCm39) missense probably benign
R9026:Ercc8 UTSW 13 108,320,389 (GRCm39) missense possibly damaging 0.51
R9191:Ercc8 UTSW 13 108,305,914 (GRCm39) missense probably benign 0.05
R9281:Ercc8 UTSW 13 108,320,364 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGTTGCCGTTATAGCTCAGG -3'
(R):5'- CAAAGGTGGATTGACGGTATCATAC -3'

Sequencing Primer
(F):5'- CTCAGGCTTTAGTGGTGAGTAAC -3'
(R):5'- GGATTGACGGTATCATACATACTTC -3'
Posted On 2019-11-12