Incidental Mutation 'R6791:Xpc'
ID 532581
Institutional Source Beutler Lab
Gene Symbol Xpc
Ensembl Gene ENSMUSG00000030094
Gene Name xeroderma pigmentosum, complementation group C
Synonyms
MMRRC Submission 044904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 91466287-91492870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91483839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 169 (A169V)
Ref Sequence ENSEMBL: ENSMUSP00000032182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000206476]
AlphaFold P51612
Predicted Effect probably benign
Transcript: ENSMUST00000032182
AA Change: A169V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: A169V

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: A167V
Predicted Effect probably benign
Transcript: ENSMUST00000206476
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T probably benign 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
R0285:Xpc UTSW 6 91,475,046 (GRCm39) missense probably damaging 0.99
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
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'- ACAGGTGCTCAGTTTGTGTC -3'
(R):5'- CAGCAGAACCCTGATTTTGTCC -3'

Sequencing Primer
(F):5'- GTGTCATGCACCTCTATCTCCCAC -3'
(R):5'- CCTCTGGGACTAGAGTTAATAGC -3'
Posted On 2018-08-29