Incidental Mutation 'R0285:Xpc'
ID 24665
Institutional Source Beutler Lab
Gene Symbol Xpc
Ensembl Gene ENSMUSG00000030094
Gene Name xeroderma pigmentosum, complementation group C
Synonyms
MMRRC Submission 038506-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R0285 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 91466287-91492870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91475046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 660 (L660F)
Ref Sequence ENSEMBL: ENSMUSP00000032182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182]
AlphaFold P51612
Predicted Effect probably damaging
Transcript: ENSMUST00000032182
AA Change: L660F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: L660F

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
low complexity region 118 142 N/A INTRINSIC
low complexity region 299 315 N/A INTRINSIC
low complexity region 335 352 N/A INTRINSIC
low complexity region 371 387 N/A INTRINSIC
low complexity region 425 439 N/A INTRINSIC
Pfam:Rad4 485 619 6.4e-26 PFAM
BHD_1 623 675 4.09e-25 SMART
BHD_2 677 737 4.96e-24 SMART
BHD_3 744 818 4.83e-45 SMART
low complexity region 826 835 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150279
AA Change: L658F
Meta Mutation Damage Score 0.6685 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy3 A G 19: 4,038,193 (GRCm39) E162G probably benign Het
Angptl1 T C 1: 156,672,785 (GRCm39) S204P probably benign Het
Atf6b C T 17: 34,869,370 (GRCm39) probably benign Het
Card11 G A 5: 140,872,856 (GRCm39) S619F probably damaging Het
Ccdc192 G A 18: 57,666,937 (GRCm39) G5S probably damaging Het
Ccl11 G A 11: 81,953,084 (GRCm39) V81I probably damaging Het
Cds1 T C 5: 101,944,904 (GRCm39) I126T probably damaging Het
Chd1 A G 17: 17,594,942 (GRCm39) probably benign Het
Cndp1 C A 18: 84,636,363 (GRCm39) V384F possibly damaging Het
Cuta A G 17: 27,158,423 (GRCm39) probably null Het
Diaph3 G A 14: 87,352,460 (GRCm39) T47I possibly damaging Het
Dop1a A T 9: 86,394,692 (GRCm39) S598C probably damaging Het
Dsp A G 13: 38,356,770 (GRCm39) M217V probably benign Het
Entrep1 G A 19: 23,956,749 (GRCm39) probably benign Het
Esyt1 T A 10: 128,348,087 (GRCm39) I898F possibly damaging Het
Fcsk G C 8: 111,620,349 (GRCm39) H235Q probably benign Het
Fgd3 A T 13: 49,417,424 (GRCm39) W680R possibly damaging Het
Folh1 A G 7: 86,391,373 (GRCm39) probably benign Het
Gadl1 C A 9: 115,859,806 (GRCm39) probably benign Het
Garem1 A G 18: 21,262,669 (GRCm39) M715T probably benign Het
Gpd2 A T 2: 57,228,967 (GRCm39) D257V probably benign Het
Hdac7 A G 15: 97,696,103 (GRCm39) probably null Het
Heatr5b A G 17: 79,115,882 (GRCm39) M858T probably benign Het
Inpp4b A T 8: 82,761,145 (GRCm39) probably benign Het
Iqgap3 G T 3: 88,004,297 (GRCm39) C461F probably benign Het
Lamb1 C A 12: 31,376,644 (GRCm39) C559* probably null Het
Lratd2 T C 15: 60,694,816 (GRCm39) H310R probably benign Het
Lrrc31 T C 3: 30,739,097 (GRCm39) N308S probably benign Het
Ly75 T C 2: 60,148,663 (GRCm39) Y1222C probably damaging Het
Map3k10 C A 7: 27,373,325 (GRCm39) R42L probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp11 T C 10: 75,761,502 (GRCm39) Y366C probably damaging Het
N4bp2 T A 5: 65,963,902 (GRCm39) D650E probably benign Het
Ncoa6 T C 2: 155,257,621 (GRCm39) M641V probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nol4l G A 2: 153,325,773 (GRCm39) probably benign Het
Notch1 T G 2: 26,350,873 (GRCm39) D2089A possibly damaging Het
Or10q3 A G 19: 11,848,502 (GRCm39) L26P probably damaging Het
Or13c7 G A 4: 43,854,398 (GRCm39) V30M possibly damaging Het
Or52h2 A T 7: 103,838,531 (GRCm39) Y294* probably null Het
Or5b24 A T 19: 12,912,536 (GRCm39) M145L probably benign Het
Or5l13 A G 2: 87,780,475 (GRCm39) I34T probably damaging Het
Or5p68 A G 7: 107,945,706 (GRCm39) S161P probably benign Het
Or8d23 T A 9: 38,842,070 (GRCm39) I201N possibly damaging Het
Otof C T 5: 30,536,877 (GRCm39) probably null Het
Paox T C 7: 139,709,053 (GRCm39) F324L probably damaging Het
Pycr1 A T 11: 120,531,142 (GRCm39) I277N probably benign Het
R3hcc1l A T 19: 42,564,568 (GRCm39) H627L probably damaging Het
Rab21 G A 10: 115,126,768 (GRCm39) S193L probably benign Het
Ralgds T G 2: 28,440,581 (GRCm39) probably null Het
Rbm42 A G 7: 30,345,265 (GRCm39) S169P possibly damaging Het
Rfpl4 A G 7: 5,113,377 (GRCm39) V262A probably benign Het
Rhobtb3 A G 13: 76,025,628 (GRCm39) I496T possibly damaging Het
Rnf31 G A 14: 55,838,846 (GRCm39) A901T probably damaging Het
Ryr2 T C 13: 11,731,863 (GRCm39) D2359G probably damaging Het
Sgo2b A C 8: 64,381,823 (GRCm39) Y336* probably null Het
Slc16a7 T A 10: 125,130,500 (GRCm39) I62L probably benign Het
Slc22a21 A T 11: 53,850,022 (GRCm39) probably benign Het
Slc25a21 A G 12: 56,904,810 (GRCm39) probably null Het
Slc5a4b T C 10: 75,898,117 (GRCm39) I532M probably damaging Het
Spata31f1a G A 4: 42,850,236 (GRCm39) T640M probably benign Het
Srrm4 C A 5: 116,605,848 (GRCm39) probably benign Het
Stxbp1 C A 2: 32,713,554 (GRCm39) E27D probably benign Het
Sult2a5 T A 7: 13,362,685 (GRCm39) Y131N probably damaging Het
Svopl T C 6: 37,961,457 (GRCm39) Q492R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Tmprss11c A G 5: 86,419,289 (GRCm39) L90P probably damaging Het
Tmprss6 T A 15: 78,337,068 (GRCm39) D346V probably damaging Het
Ubr4 A C 4: 139,168,112 (GRCm39) S2820R probably damaging Het
Usp4 T C 9: 108,255,763 (GRCm39) V607A probably benign Het
Usp45 A G 4: 21,798,603 (GRCm39) probably null Het
Vill C T 9: 118,899,895 (GRCm39) probably benign Het
Vmn1r13 C A 6: 57,186,979 (GRCm39) T46N probably benign Het
Vmn2r107 A G 17: 20,565,873 (GRCm39) T63A probably benign Het
Vmn2r82 T A 10: 79,232,391 (GRCm39) W797R probably damaging Het
Washc2 T A 6: 116,198,800 (GRCm39) D287E probably damaging Het
Other mutations in Xpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Xpc APN 6 91,469,246 (GRCm39) unclassified probably benign
IGL01108:Xpc APN 6 91,469,987 (GRCm39) missense probably damaging 1.00
IGL01310:Xpc APN 6 91,467,089 (GRCm39) missense probably benign 0.02
IGL01323:Xpc APN 6 91,469,335 (GRCm39) missense probably damaging 1.00
IGL01350:Xpc APN 6 91,476,993 (GRCm39) missense probably benign 0.01
IGL01656:Xpc APN 6 91,482,449 (GRCm39) missense probably damaging 0.98
IGL01922:Xpc APN 6 91,482,407 (GRCm39) missense probably damaging 1.00
IGL02412:Xpc APN 6 91,476,767 (GRCm39) missense probably benign 0.01
IGL02448:Xpc APN 6 91,492,726 (GRCm39) missense probably benign 0.00
IGL02571:Xpc APN 6 91,481,053 (GRCm39) missense probably benign 0.00
IGL02937:Xpc APN 6 91,477,119 (GRCm39) missense probably damaging 1.00
IGL02951:Xpc APN 6 91,483,831 (GRCm39) missense probably damaging 1.00
IGL03033:Xpc APN 6 91,468,297 (GRCm39) splice site probably null
IGL03248:Xpc APN 6 91,481,565 (GRCm39) missense probably damaging 0.99
IGL03046:Xpc UTSW 6 91,487,463 (GRCm39) missense probably damaging 1.00
R0031:Xpc UTSW 6 91,468,208 (GRCm39) missense probably benign 0.01
R0173:Xpc UTSW 6 91,481,717 (GRCm39) unclassified probably benign
R0454:Xpc UTSW 6 91,468,208 (GRCm39) missense probably benign 0.01
R0535:Xpc UTSW 6 91,481,560 (GRCm39) missense possibly damaging 0.92
R0554:Xpc UTSW 6 91,468,208 (GRCm39) missense probably benign 0.01
R0759:Xpc UTSW 6 91,475,124 (GRCm39) missense probably damaging 0.99
R1426:Xpc UTSW 6 91,470,220 (GRCm39) missense probably damaging 1.00
R1478:Xpc UTSW 6 91,485,510 (GRCm39) missense possibly damaging 0.94
R1676:Xpc UTSW 6 91,469,929 (GRCm39) missense possibly damaging 0.56
R1969:Xpc UTSW 6 91,478,007 (GRCm39) splice site probably null
R2138:Xpc UTSW 6 91,475,104 (GRCm39) nonsense probably null
R2237:Xpc UTSW 6 91,475,090 (GRCm39) missense probably damaging 1.00
R4580:Xpc UTSW 6 91,476,993 (GRCm39) missense probably benign 0.01
R5318:Xpc UTSW 6 91,469,992 (GRCm39) missense probably damaging 1.00
R5567:Xpc UTSW 6 91,475,117 (GRCm39) missense probably damaging 1.00
R5681:Xpc UTSW 6 91,481,102 (GRCm39) missense probably damaging 1.00
R6022:Xpc UTSW 6 91,476,618 (GRCm39) missense probably damaging 0.96
R6791:Xpc UTSW 6 91,483,839 (GRCm39) missense probably benign 0.01
R6794:Xpc UTSW 6 91,483,839 (GRCm39) missense probably benign 0.01
R6983:Xpc UTSW 6 91,481,005 (GRCm39) missense probably damaging 0.99
R7214:Xpc UTSW 6 91,469,320 (GRCm39) missense probably damaging 1.00
R7442:Xpc UTSW 6 91,481,631 (GRCm39) missense probably damaging 1.00
R7524:Xpc UTSW 6 91,476,513 (GRCm39) missense probably benign 0.23
R7581:Xpc UTSW 6 91,474,999 (GRCm39) splice site probably benign
R8002:Xpc UTSW 6 91,469,287 (GRCm39) missense probably damaging 0.98
R8992:Xpc UTSW 6 91,477,956 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GTTGTGTGTCAACCACCAGTCTCC -3'
(R):5'- TGTCACCAAGTTGCTGATGGGTC -3'

Sequencing Primer
(F):5'- GAGGAACACTTCTACAGCCTTG -3'
(R):5'- GAACAGGCTCATATCTAGCGGTC -3'
Posted On 2013-04-16