Incidental Mutation 'R1886:Ercc5'
ID 209505
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 039907-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1886 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 44186904-44220420 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44215136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 890 (K890*)
Ref Sequence ENSEMBL: ENSMUSP00000027214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027214]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027214
AA Change: K890*
SMART Domains Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: K890*

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
Coding Region Coverage
  • 1x: 97.2%
  • 3x: 96.2%
  • 10x: 93.1%
  • 20x: 85.9%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acacb T A 5: 114,357,020 (GRCm39) L1317Q probably damaging Het
Acsf3 T C 8: 123,510,741 (GRCm39) V293A probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Aen A T 7: 78,557,073 (GRCm39) D307V probably damaging Het
Ahnak G A 19: 8,993,343 (GRCm39) D4876N probably damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Arhgdia T C 11: 120,470,244 (GRCm39) D143G probably benign Het
Bcl9 G T 3: 97,122,713 (GRCm39) R29S probably benign Het
Bhmt2 T A 13: 93,798,998 (GRCm39) K274N probably benign Het
Brip1 C A 11: 86,029,641 (GRCm39) G631V probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cfap299 A G 5: 98,949,690 (GRCm39) N208S probably benign Het
Cit A G 5: 116,071,545 (GRCm39) Y584C probably damaging Het
Crebl2 T C 6: 134,828,059 (GRCm39) M77T probably benign Het
Dach2 G A X: 112,208,305 (GRCm39) G61D probably benign Het
Ddx4 A T 13: 112,759,199 (GRCm39) D237E probably damaging Het
Dgcr8 A G 16: 18,096,218 (GRCm39) I490T possibly damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Dnah17 T A 11: 117,998,987 (GRCm39) I929F possibly damaging Het
Eif3f A G 7: 108,539,958 (GRCm39) T289A probably benign Het
Esrp2 A T 8: 106,860,489 (GRCm39) V247E probably damaging Het
Evpl C T 11: 116,118,402 (GRCm39) G735E probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxl21 A G 13: 56,674,906 (GRCm39) I60V probably benign Het
Frem3 A G 8: 81,340,514 (GRCm39) I936V probably benign Het
Fsd1l T C 4: 53,696,984 (GRCm39) probably null Het
Gad1-ps T C 10: 99,281,444 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,314,063 (GRCm39) T448A probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gmppa T C 1: 75,419,152 (GRCm39) V353A probably damaging Het
Hmcn1 T C 1: 150,453,046 (GRCm39) E5423G probably benign Het
Hmgxb3 A G 18: 61,270,473 (GRCm39) probably null Het
Krt12 T C 11: 99,309,402 (GRCm39) D286G probably damaging Het
Krt75 A T 15: 101,479,532 (GRCm39) M266K probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Lag3 T C 6: 124,886,402 (GRCm39) N184D probably damaging Het
Lsm10 C G 4: 125,991,741 (GRCm39) D32E probably benign Het
Mettl5 A G 2: 69,711,149 (GRCm39) V123A probably damaging Het
Mfrp A G 9: 44,014,785 (GRCm39) D274G possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Mplkipl1 A G 19: 61,164,136 (GRCm39) F100L probably damaging Het
Mttp A T 3: 137,798,376 (GRCm39) V840D probably damaging Het
Nadk2 A C 15: 9,103,446 (GRCm39) N308H possibly damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nlk T A 11: 78,477,754 (GRCm39) I330F probably damaging Het
Ofcc1 T C 13: 40,360,100 (GRCm39) S310G possibly damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5p73 A T 7: 108,064,947 (GRCm39) M139L probably benign Het
Orc2 T C 1: 58,510,247 (GRCm39) probably null Het
Orc3 A G 4: 34,584,829 (GRCm39) Y459H probably damaging Het
Pah T A 10: 87,364,190 (GRCm39) N30K possibly damaging Het
Pcsk4 T C 10: 80,164,794 (GRCm39) K74E probably benign Het
Pdlim7 C T 13: 55,653,981 (GRCm39) G212D probably benign Het
Pfkm A G 15: 98,025,627 (GRCm39) N547S probably damaging Het
Por A G 5: 135,763,128 (GRCm39) E546G probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Prdm1 T A 10: 44,315,754 (GRCm39) D794V probably damaging Het
Prdx5 A G 19: 6,885,558 (GRCm39) I32T probably benign Het
Prlhr G T 19: 60,455,932 (GRCm39) C211* probably null Het
Ripk3 C T 14: 56,025,694 (GRCm39) probably null Het
Rmnd5b G A 11: 51,518,465 (GRCm39) A137V probably damaging Het
Rwdd2b A T 16: 87,234,013 (GRCm39) F72I probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Septin1 A G 7: 126,813,937 (GRCm39) probably benign Het
Serpinb9h C T 13: 33,588,203 (GRCm39) R263C possibly damaging Het
Slc30a10 T A 1: 185,195,061 (GRCm39) I291N probably damaging Het
Slc7a9 T G 7: 35,152,827 (GRCm39) C20W possibly damaging Het
Slc7a9 G C 7: 35,152,828 (GRCm39) A21P probably damaging Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Sra1 T C 18: 36,801,830 (GRCm39) M87V probably benign Het
Syvn1 T C 19: 6,099,257 (GRCm39) S169P possibly damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tmem62 A T 2: 120,817,151 (GRCm39) I236F probably damaging Het
Trip4 T A 9: 65,782,163 (GRCm39) I190F probably null Het
Trpa1 T C 1: 14,959,649 (GRCm39) D679G probably benign Het
Ttc22 T A 4: 106,494,063 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tyrp1 T A 4: 80,759,043 (GRCm39) probably null Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp36 A T 11: 118,163,784 (GRCm39) Y255N probably damaging Het
Zfp944 A T 17: 22,558,960 (GRCm39) Y96N probably benign 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
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
R3919:Ercc5 UTSW 1 44,201,091 (GRCm39) missense probably damaging 1.00
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'- TGTCTGTCTGTCTGTCTCTGTATATA -3'
(R):5'- TGACTTGGGACAGCTTGTGA -3'

Sequencing Primer
(F):5'- GGCAGTGACTATACGGAA -3'
(R):5'- GGGACAGCTTGTGATTTTAGAAAC -3'
Posted On 2014-06-30