Incidental Mutation 'R1835:Ercc5'
ID 205125
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 039862-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1835 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 44147744-44181260 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44180875 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1102 (S1102R)
Ref Sequence ENSEMBL: ENSMUSP00000027214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027214]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027214
AA Change: S1102R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: S1102R

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: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.0%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G T 11: 78,287,750 (GRCm38) V1993F probably damaging Het
4933425L06Rik C A 13: 105,082,194 (GRCm38) A12E unknown Het
Acss2 T A 2: 155,558,630 (GRCm38) Y530N probably damaging Het
Adam4 T C 12: 81,419,559 (GRCm38) I763V probably benign Het
Aipl1 T G 11: 72,030,499 (GRCm38) K190T possibly damaging Het
Alms1 T A 6: 85,678,503 (GRCm38) S3344T possibly damaging Het
Alpi A G 1: 87,099,414 (GRCm38) V381A possibly damaging Het
Ankfn1 A T 11: 89,447,618 (GRCm38) S365R probably benign Het
Aox2 G A 1: 58,308,991 (GRCm38) A623T probably benign Het
Apc T A 18: 34,317,077 (GRCm38) L2308Q probably damaging Het
Atp9b C T 18: 80,778,883 (GRCm38) V501I probably benign Het
Baz2b T C 2: 59,901,819 (GRCm38) E1994G probably benign Het
Cacna1a T C 8: 84,581,357 (GRCm38) probably null Het
Cacna1h C A 17: 25,392,076 (GRCm38) V583L probably benign Het
Cd55 T C 1: 130,447,609 (GRCm38) probably benign Het
Cep192 T A 18: 67,804,424 (GRCm38) S75T possibly damaging Het
Cfap54 T A 10: 92,962,375 (GRCm38) D1674V probably benign Het
Churc1 T C 12: 76,773,297 (GRCm38) F27L possibly damaging Het
Coro1c A G 5: 113,848,543 (GRCm38) I280T probably benign Het
Creb1 C T 1: 64,550,950 (GRCm38) Q32* probably null Het
Cyp2b9 A G 7: 26,200,783 (GRCm38) T339A probably benign Het
Dctn3 T C 4: 41,720,813 (GRCm38) R51G probably damaging Het
Ddb1 T C 19: 10,626,593 (GRCm38) V888A probably damaging Het
Disp1 A G 1: 183,089,000 (GRCm38) Y619H probably damaging Het
Dnajc9 T C 14: 20,388,334 (GRCm38) D96G possibly damaging Het
Eepd1 A G 9: 25,482,868 (GRCm38) T143A possibly damaging Het
Eps8 T A 6: 137,522,279 (GRCm38) K204* probably null Het
Ergic2 T A 6: 148,189,581 (GRCm38) Y211F possibly damaging Het
Fam135b G T 15: 71,490,711 (GRCm38) L274M probably damaging Het
Fat3 G A 9: 15,998,088 (GRCm38) T2206I probably damaging Het
Fat4 A G 3: 38,983,571 (GRCm38) I3791V probably benign Het
Gemin4 A G 11: 76,213,296 (GRCm38) M213T possibly damaging Het
Gnai3 T C 3: 108,118,407 (GRCm38) M119V probably benign Het
Heatr5b A T 17: 78,773,563 (GRCm38) L1420Q probably damaging Het
Herc2 G T 7: 56,206,765 (GRCm38) G3918* probably null Het
Ints9 A G 14: 65,032,256 (GRCm38) Y465C probably damaging Het
Ist1 A G 8: 109,678,883 (GRCm38) V175A probably damaging Het
Kcnj12 T C 11: 61,069,557 (GRCm38) L227P possibly damaging Het
Kcnq5 T C 1: 21,466,387 (GRCm38) S416G probably benign Het
Kdm3a T A 6: 71,613,956 (GRCm38) T295S probably benign Het
Kif1c T A 11: 70,708,971 (GRCm38) M479K probably damaging Het
Kif20b T C 19: 34,956,038 (GRCm38) L83P probably damaging Het
Kndc1 A G 7: 139,927,711 (GRCm38) E1194G probably damaging Het
Llgl1 A G 11: 60,704,730 (GRCm38) M81V probably benign Het
Map4k5 C A 12: 69,824,662 (GRCm38) M495I probably damaging Het
Mest C T 6: 30,742,791 (GRCm38) R146C probably benign Het
Mettl24 T A 10: 40,737,816 (GRCm38) probably null Het
Mical1 T C 10: 41,483,535 (GRCm38) S586P probably benign Het
Mrgpra3 G T 7: 47,589,946 (GRCm38) Y77* probably null Het
Mss51 A T 14: 20,483,178 (GRCm38) C408* probably null Het
Myh6 T C 14: 54,957,401 (GRCm38) T666A probably benign Het
Myo10 T C 15: 25,805,587 (GRCm38) C1685R possibly damaging Het
Naip5 A T 13: 100,223,218 (GRCm38) Y503* probably null Het
Neil1 A C 9: 57,146,604 (GRCm38) F144C probably damaging Het
Nipbl T A 15: 8,343,517 (GRCm38) I1082F possibly damaging Het
Nkiras1 T C 14: 18,276,732 (GRCm38) V7A probably damaging Het
Ntng2 G A 2: 29,197,057 (GRCm38) Q384* probably null Het
Ocrl T A X: 47,962,116 (GRCm38) I74N probably damaging Het
Olfr137 A T 17: 38,305,312 (GRCm38) S50T probably benign Het
Olfr1385 A T 11: 49,494,670 (GRCm38) I46F probably damaging Het
Olfr1408 A G 1: 173,130,815 (GRCm38) V134A probably benign Het
Olfr381 A C 11: 73,486,374 (GRCm38) V150G probably benign Het
Olfr535 A G 7: 140,492,709 (GRCm38) S24G probably benign Het
Olfr761 C T 17: 37,952,385 (GRCm38) G213E possibly damaging Het
Patj A G 4: 98,491,590 (GRCm38) D151G probably benign Het
Plpbp T C 8: 27,049,231 (GRCm38) V126A probably damaging Het
Pold2 A G 11: 5,873,454 (GRCm38) L325P possibly damaging Het
Ppp1r12c A C 7: 4,483,651 (GRCm38) S480A probably damaging Het
Pum1 T C 4: 130,701,048 (GRCm38) S124P possibly damaging Het
Pwp2 C G 10: 78,179,091 (GRCm38) G353A probably damaging Het
Reln C A 5: 21,979,002 (GRCm38) Q1666H probably damaging Het
Rnf19a T C 15: 36,265,925 (GRCm38) I9V probably benign Het
Ryr2 T C 13: 11,769,878 (GRCm38) H1063R probably benign Het
Samd14 C G 11: 95,023,600 (GRCm38) D361E probably damaging Het
Samd15 A T 12: 87,201,843 (GRCm38) N365I probably damaging Het
Sec16b A G 1: 157,531,312 (GRCm38) H105R probably benign Het
Sez6 T C 11: 77,953,503 (GRCm38) S51P probably benign Het
Sh3bp1 T A 15: 78,905,150 (GRCm38) L236Q probably damaging Het
Sspo C T 6: 48,457,340 (GRCm38) T991I probably damaging Het
Suco A T 1: 161,859,500 (GRCm38) L97* probably null Het
Tab1 C A 15: 80,148,296 (GRCm38) R35S probably benign Het
Tet3 C A 6: 83,404,163 (GRCm38) S341I possibly damaging Het
Tlr1 A T 5: 64,925,700 (GRCm38) D511E probably benign Het
Tmem132b A C 5: 125,785,899 (GRCm38) D656A probably damaging Het
Tmtc4 T A 14: 122,941,988 (GRCm38) probably null Het
Trmo T C 4: 46,380,158 (GRCm38) T404A probably damaging Het
Trpm1 A G 7: 64,230,268 (GRCm38) K790E probably damaging Het
Ulk4 C A 9: 121,168,184 (GRCm38) R774M probably null Het
Ush2a C T 1: 188,451,818 (GRCm38) L1440F probably benign Het
Usp16 A G 16: 87,480,907 (GRCm38) K682E probably damaging Het
Virma T C 4: 11,540,511 (GRCm38) S1471P probably benign Het
Vmn1r177 A T 7: 23,865,686 (GRCm38) I255N probably damaging Het
Vmn2r61 A T 7: 42,266,652 (GRCm38) R230* probably null Het
Vps13c T A 9: 67,993,013 (GRCm38) F3671L probably benign Het
Washc5 T C 15: 59,359,340 (GRCm38) N358S possibly damaging Het
Wdr72 A G 9: 74,151,617 (GRCm38) K331E probably damaging Het
Zfp986 A T 4: 145,899,235 (GRCm38) K155I probably benign Het
Other mutations in Ercc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ercc5 APN 1 44,163,898 (GRCm38) missense probably damaging 1.00
IGL00782:Ercc5 APN 1 44,163,935 (GRCm38) missense probably damaging 1.00
IGL01418:Ercc5 APN 1 44,167,280 (GRCm38) missense probably benign 0.43
IGL01710:Ercc5 APN 1 44,164,075 (GRCm38) missense probably damaging 1.00
IGL02528:Ercc5 APN 1 44,167,802 (GRCm38) missense probably benign 0.00
IGL02589:Ercc5 APN 1 44,164,049 (GRCm38) missense probably damaging 1.00
IGL02651:Ercc5 APN 1 44,156,944 (GRCm38) missense probably damaging 1.00
IGL02740:Ercc5 APN 1 44,167,492 (GRCm38) missense probably benign 0.00
IGL02999:Ercc5 APN 1 44,167,654 (GRCm38) missense probably benign 0.00
IGL03057:Ercc5 APN 1 44,167,001 (GRCm38) missense probably damaging 0.99
IGL03246:Ercc5 APN 1 44,167,081 (GRCm38) missense probably damaging 1.00
R0084:Ercc5 UTSW 1 44,175,976 (GRCm38) missense possibly damaging 0.53
R0448:Ercc5 UTSW 1 44,173,940 (GRCm38) missense probably damaging 1.00
R1120:Ercc5 UTSW 1 44,161,841 (GRCm38) missense probably damaging 1.00
R1312:Ercc5 UTSW 1 44,164,019 (GRCm38) missense probably damaging 1.00
R1411:Ercc5 UTSW 1 44,178,281 (GRCm38) missense probably damaging 0.99
R1462:Ercc5 UTSW 1 44,180,624 (GRCm38) missense probably damaging 0.98
R1462:Ercc5 UTSW 1 44,180,624 (GRCm38) missense probably damaging 0.98
R1528:Ercc5 UTSW 1 44,178,241 (GRCm38) nonsense probably null
R1637:Ercc5 UTSW 1 44,167,534 (GRCm38) missense probably benign 0.00
R1668:Ercc5 UTSW 1 44,167,033 (GRCm38) missense probably benign 0.04
R1714:Ercc5 UTSW 1 44,167,339 (GRCm38) missense probably benign 0.01
R1780:Ercc5 UTSW 1 44,167,796 (GRCm38) missense probably benign 0.17
R1800:Ercc5 UTSW 1 44,173,380 (GRCm38) missense probably benign 0.00
R1836:Ercc5 UTSW 1 44,180,875 (GRCm38) missense probably benign 0.00
R1886:Ercc5 UTSW 1 44,175,976 (GRCm38) nonsense probably null
R2344:Ercc5 UTSW 1 44,167,169 (GRCm38) missense probably benign
R2680:Ercc5 UTSW 1 44,156,973 (GRCm38) missense probably benign 0.09
R3033:Ercc5 UTSW 1 44,180,574 (GRCm38) missense possibly damaging 0.83
R3919:Ercc5 UTSW 1 44,161,931 (GRCm38) missense probably damaging 1.00
R3933:Ercc5 UTSW 1 44,167,856 (GRCm38) missense probably benign 0.17
R4444:Ercc5 UTSW 1 44,158,209 (GRCm38) frame shift probably null
R4578:Ercc5 UTSW 1 44,148,148 (GRCm38) missense probably benign 0.32
R4585:Ercc5 UTSW 1 44,158,857 (GRCm38) missense probably benign 0.36
R4586:Ercc5 UTSW 1 44,158,857 (GRCm38) missense probably benign 0.36
R4911:Ercc5 UTSW 1 44,166,871 (GRCm38) missense possibly damaging 0.66
R4912:Ercc5 UTSW 1 44,157,057 (GRCm38) missense probably damaging 1.00
R4942:Ercc5 UTSW 1 44,175,965 (GRCm38) missense probably benign 0.09
R5155:Ercc5 UTSW 1 44,180,622 (GRCm38) missense probably damaging 1.00
R5975:Ercc5 UTSW 1 44,173,406 (GRCm38) missense probably benign 0.04
R5991:Ercc5 UTSW 1 44,180,830 (GRCm38) nonsense probably null
R6161:Ercc5 UTSW 1 44,167,352 (GRCm38) missense probably benign 0.00
R6250:Ercc5 UTSW 1 44,164,049 (GRCm38) missense probably damaging 1.00
R7142:Ercc5 UTSW 1 44,174,214 (GRCm38) missense probably damaging 1.00
R7183:Ercc5 UTSW 1 44,161,809 (GRCm38) critical splice acceptor site probably null
R7183:Ercc5 UTSW 1 44,161,808 (GRCm38) critical splice acceptor site probably null
R7235:Ercc5 UTSW 1 44,178,203 (GRCm38) missense possibly damaging 0.68
R7349:Ercc5 UTSW 1 44,180,908 (GRCm38) missense possibly damaging 0.56
R7369:Ercc5 UTSW 1 44,180,860 (GRCm38) missense probably benign 0.39
R7486:Ercc5 UTSW 1 44,148,064 (GRCm38) start codon destroyed probably null 1.00
R7586:Ercc5 UTSW 1 44,175,851 (GRCm38) missense possibly damaging 0.49
R7904:Ercc5 UTSW 1 44,175,838 (GRCm38) critical splice acceptor site probably null
R7994:Ercc5 UTSW 1 44,178,334 (GRCm38) missense possibly damaging 0.94
R8432:Ercc5 UTSW 1 44,167,681 (GRCm38) nonsense probably null
R8795:Ercc5 UTSW 1 44,163,929 (GRCm38) missense possibly damaging 0.92
R9144:Ercc5 UTSW 1 44,174,351 (GRCm38) missense probably damaging 1.00
R9208:Ercc5 UTSW 1 44,178,343 (GRCm38) missense possibly damaging 0.51
R9295:Ercc5 UTSW 1 44,158,857 (GRCm38) missense probably damaging 1.00
R9516:Ercc5 UTSW 1 44,167,881 (GRCm38) missense probably damaging 1.00
X0011:Ercc5 UTSW 1 44,180,622 (GRCm38) missense probably damaging 1.00
X0062:Ercc5 UTSW 1 44,173,974 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGCCCTGGATGATGCAAAAG -3'
(R):5'- TTGTGTGCGGATAACAATATGG -3'

Sequencing Primer
(F):5'- CTGGATGATGCAAAAGGAAAAACCC -3'
(R):5'- AGCTACTAGTGGACACAC -3'
Posted On 2014-06-23