Incidental Mutation 'R3919:Ercc5'
ID 306872
Institutional Source Beutler Lab
Gene Symbol Ercc5
Ensembl Gene ENSMUSG00000026048
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 5
Synonyms Xpg
MMRRC Submission 040817-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3919 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 44186904-44220420 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44201091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 217 (T217K)
Ref Sequence ENSEMBL: ENSMUSP00000027214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027214]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027214
AA Change: T217K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: T217K

DomainStartEndE-ValueType
XPGN 1 98 3.49e-50 SMART
low complexity region 104 115 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
low complexity region 305 326 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
low complexity region 641 650 N/A INTRINSIC
XPGI 776 845 1.02e-33 SMART
HhH2 847 880 2.94e-11 SMART
low complexity region 1130 1140 N/A INTRINSIC
low complexity region 1155 1169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155862
Meta Mutation Damage Score 0.5020 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mice display postnatal mortality, severely retarded postnatal growth, impaired small intestine development, reduced organ size, and hypersensitivity to UV irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik G T 7: 43,879,852 (GRCm39) probably benign Het
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Abcb5 A G 12: 118,854,353 (GRCm39) M854T possibly damaging Het
Akap9 T A 5: 4,011,764 (GRCm39) Y822* probably null Het
Apoe T C 7: 19,430,472 (GRCm39) T257A probably benign Het
Atm C A 9: 53,403,578 (GRCm39) A1365S probably benign Het
Bmp2k T C 5: 97,222,599 (GRCm39) S674P unknown Het
Cd177 T C 7: 24,443,858 (GRCm39) S747G probably benign Het
Cdk5rap2 A G 4: 70,298,460 (GRCm39) F91L possibly damaging Het
Chil4 A T 3: 106,109,848 (GRCm39) N388K probably benign Het
Dnah3 G A 7: 119,550,303 (GRCm39) L3328F probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Esyt1 T A 10: 128,356,905 (GRCm39) probably benign Het
Ifih1 C A 2: 62,453,845 (GRCm39) probably benign Het
Ints12 A T 3: 132,806,444 (GRCm39) T124S probably benign Het
Kdm5d T C Y: 939,914 (GRCm39) L1022P probably damaging Het
Lama2 T A 10: 26,994,501 (GRCm39) N1803Y probably damaging Het
Lpcat2 C T 8: 93,640,902 (GRCm39) T449I probably damaging Het
Ly6c2 A T 15: 74,980,613 (GRCm39) probably null Het
Mast3 T C 8: 71,232,066 (GRCm39) K1304E probably benign Het
Mdm4 T C 1: 132,922,306 (GRCm39) K279E possibly damaging Het
Mest G A 6: 30,742,749 (GRCm39) S132N probably benign Het
Mras T A 9: 99,293,473 (GRCm39) I56F probably damaging Het
Mrgprb1 T C 7: 48,097,829 (GRCm39) K28E probably benign Het
Myrip G A 9: 120,261,695 (GRCm39) G436D probably damaging Het
Nr2e3 T A 9: 59,850,723 (GRCm39) T379S probably damaging Het
Or8k27 A G 2: 86,275,762 (GRCm39) V188A probably benign Het
Plscr3 T A 11: 69,738,236 (GRCm39) probably benign Het
Pola1 C A X: 92,505,078 (GRCm39) R1313L probably benign Het
Ppt2 T C 17: 34,841,897 (GRCm39) N213S probably damaging Het
Prelid2 T A 18: 42,070,740 (GRCm39) D31V possibly damaging Het
Psmb9 C T 17: 34,402,588 (GRCm39) probably null Het
Rec8 A G 14: 55,858,716 (GRCm39) T164A probably benign Het
Rnf103 G A 6: 71,487,331 (GRCm39) R654Q probably benign Het
Setdb2 T A 14: 59,656,616 (GRCm39) I250F probably damaging Het
Slurp1 A T 15: 74,598,659 (GRCm39) *111K probably null Het
Sphkap T G 1: 83,254,179 (GRCm39) E903A probably damaging Het
Sst T C 16: 23,708,591 (GRCm39) D80G possibly damaging Het
Stat4 C T 1: 52,135,981 (GRCm39) T430I possibly damaging Het
Tmprss4 C T 9: 45,091,964 (GRCm39) V174M probably benign Het
Trim6 A T 7: 103,882,057 (GRCm39) Y436F probably damaging Het
Ttc28 C A 5: 111,433,245 (GRCm39) A2093E possibly damaging Het
Vav3 A G 3: 109,434,854 (GRCm39) N462D possibly damaging Het
Whrn G T 4: 63,413,421 (GRCm39) S17* probably null Het
Zfhx4 T A 3: 5,464,175 (GRCm39) S1469R possibly damaging Het
Zfp108 T A 7: 23,960,257 (GRCm39) C283S probably damaging Het
Other mutations in Ercc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ercc5 APN 1 44,203,058 (GRCm39) missense probably damaging 1.00
IGL00782:Ercc5 APN 1 44,203,095 (GRCm39) missense probably damaging 1.00
IGL01418:Ercc5 APN 1 44,206,440 (GRCm39) missense probably benign 0.43
IGL01710:Ercc5 APN 1 44,203,235 (GRCm39) missense probably damaging 1.00
IGL02528:Ercc5 APN 1 44,206,962 (GRCm39) missense probably benign 0.00
IGL02589:Ercc5 APN 1 44,203,209 (GRCm39) missense probably damaging 1.00
IGL02651:Ercc5 APN 1 44,196,104 (GRCm39) missense probably damaging 1.00
IGL02740:Ercc5 APN 1 44,206,652 (GRCm39) missense probably benign 0.00
IGL02999:Ercc5 APN 1 44,206,814 (GRCm39) missense probably benign 0.00
IGL03057:Ercc5 APN 1 44,206,161 (GRCm39) missense probably damaging 0.99
IGL03246:Ercc5 APN 1 44,206,241 (GRCm39) missense probably damaging 1.00
R0084:Ercc5 UTSW 1 44,215,136 (GRCm39) missense possibly damaging 0.53
R0448:Ercc5 UTSW 1 44,213,100 (GRCm39) missense probably damaging 1.00
R1120:Ercc5 UTSW 1 44,201,001 (GRCm39) missense probably damaging 1.00
R1312:Ercc5 UTSW 1 44,203,179 (GRCm39) missense probably damaging 1.00
R1411:Ercc5 UTSW 1 44,217,441 (GRCm39) missense probably damaging 0.99
R1462:Ercc5 UTSW 1 44,219,784 (GRCm39) missense probably damaging 0.98
R1462:Ercc5 UTSW 1 44,219,784 (GRCm39) missense probably damaging 0.98
R1528:Ercc5 UTSW 1 44,217,401 (GRCm39) nonsense probably null
R1637:Ercc5 UTSW 1 44,206,694 (GRCm39) missense probably benign 0.00
R1668:Ercc5 UTSW 1 44,206,193 (GRCm39) missense probably benign 0.04
R1714:Ercc5 UTSW 1 44,206,499 (GRCm39) missense probably benign 0.01
R1780:Ercc5 UTSW 1 44,206,956 (GRCm39) missense probably benign 0.17
R1800:Ercc5 UTSW 1 44,212,540 (GRCm39) missense probably benign 0.00
R1835:Ercc5 UTSW 1 44,220,035 (GRCm39) missense probably benign 0.00
R1836:Ercc5 UTSW 1 44,220,035 (GRCm39) missense probably benign 0.00
R1886:Ercc5 UTSW 1 44,215,136 (GRCm39) nonsense probably null
R2344:Ercc5 UTSW 1 44,206,329 (GRCm39) missense probably benign
R2680:Ercc5 UTSW 1 44,196,133 (GRCm39) missense probably benign 0.09
R3033:Ercc5 UTSW 1 44,219,734 (GRCm39) missense possibly damaging 0.83
R3933:Ercc5 UTSW 1 44,207,016 (GRCm39) missense probably benign 0.17
R4444:Ercc5 UTSW 1 44,197,369 (GRCm39) frame shift probably null
R4578:Ercc5 UTSW 1 44,187,308 (GRCm39) missense probably benign 0.32
R4585:Ercc5 UTSW 1 44,198,017 (GRCm39) missense probably benign 0.36
R4586:Ercc5 UTSW 1 44,198,017 (GRCm39) missense probably benign 0.36
R4911:Ercc5 UTSW 1 44,206,031 (GRCm39) missense possibly damaging 0.66
R4912:Ercc5 UTSW 1 44,196,217 (GRCm39) missense probably damaging 1.00
R4942:Ercc5 UTSW 1 44,215,125 (GRCm39) missense probably benign 0.09
R5155:Ercc5 UTSW 1 44,219,782 (GRCm39) missense probably damaging 1.00
R5975:Ercc5 UTSW 1 44,212,566 (GRCm39) missense probably benign 0.04
R5991:Ercc5 UTSW 1 44,219,990 (GRCm39) nonsense probably null
R6161:Ercc5 UTSW 1 44,206,512 (GRCm39) missense probably benign 0.00
R6250:Ercc5 UTSW 1 44,203,209 (GRCm39) missense probably damaging 1.00
R7142:Ercc5 UTSW 1 44,213,374 (GRCm39) missense probably damaging 1.00
R7183:Ercc5 UTSW 1 44,200,969 (GRCm39) critical splice acceptor site probably null
R7183:Ercc5 UTSW 1 44,200,968 (GRCm39) critical splice acceptor site probably null
R7235:Ercc5 UTSW 1 44,217,363 (GRCm39) missense possibly damaging 0.68
R7349:Ercc5 UTSW 1 44,220,068 (GRCm39) missense possibly damaging 0.56
R7369:Ercc5 UTSW 1 44,220,020 (GRCm39) missense probably benign 0.39
R7486:Ercc5 UTSW 1 44,187,224 (GRCm39) start codon destroyed probably null 1.00
R7586:Ercc5 UTSW 1 44,215,011 (GRCm39) missense possibly damaging 0.49
R7904:Ercc5 UTSW 1 44,214,998 (GRCm39) critical splice acceptor site probably null
R7994:Ercc5 UTSW 1 44,217,494 (GRCm39) missense possibly damaging 0.94
R8432:Ercc5 UTSW 1 44,206,841 (GRCm39) nonsense probably null
R8795:Ercc5 UTSW 1 44,203,089 (GRCm39) missense possibly damaging 0.92
R9144:Ercc5 UTSW 1 44,213,511 (GRCm39) missense probably damaging 1.00
R9208:Ercc5 UTSW 1 44,217,503 (GRCm39) missense possibly damaging 0.51
R9295:Ercc5 UTSW 1 44,198,017 (GRCm39) missense probably damaging 1.00
R9516:Ercc5 UTSW 1 44,207,041 (GRCm39) missense probably damaging 1.00
X0011:Ercc5 UTSW 1 44,219,782 (GRCm39) missense probably damaging 1.00
X0062:Ercc5 UTSW 1 44,213,134 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTCACAGAGCATATACTTCTGTGTAC -3'
(R):5'- TGTGTCCTTGCAACTGGGAC -3'

Sequencing Primer
(F):5'- GAGTATTTGTAACAGTGACTAGGCC -3'
(R):5'- TGCAACTGGGACCTACCTAAATTAG -3'
Posted On 2015-04-17