Incidental Mutation 'IGL01656:Xpc'
ID102993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpc
Ensembl Gene ENSMUSG00000030094
Gene Namexeroderma pigmentosum, complementation group C
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.534) question?
Stock #IGL01656
Quality Score
Status
Chromosome6
Chromosomal Location91489305-91515888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91505467 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 176 (I176K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000206476]
AlphaFold P51612
Predicted Effect probably benign
Transcript: ENSMUST00000032182
AA Change: I178K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: I178K

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 probably damaging
Transcript: ENSMUST00000150279
AA Change: I176K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206476
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A G 6: 96,165,694 V123A possibly damaging Het
4732456N10Rik T A 15: 101,555,443 Q392L probably damaging Het
Acrbp A C 6: 125,053,712 E232A possibly damaging Het
Anapc11 T A 11: 120,599,347 F30I possibly damaging Het
Ap5z1 A G 5: 142,470,314 D318G probably benign Het
Cfap43 T C 19: 47,751,900 E1278G possibly damaging Het
Cylc1 A G X: 111,123,716 T589A probably benign Het
Dcaf15 T C 8: 84,097,988 I527V probably benign Het
Ddhd2 C T 8: 25,727,712 V713I probably benign Het
Edc4 T C 8: 105,886,377 V283A possibly damaging Het
Elf5 A G 2: 103,442,861 probably benign Het
Flnb C T 14: 7,902,010 probably benign Het
Flnc C T 6: 29,443,508 probably benign Het
Fstl4 T C 11: 53,000,374 L113P probably damaging Het
Gemin4 C T 11: 76,213,810 V42M probably damaging Het
Gm10076 A G 14: 105,681,920 noncoding transcript Het
Grina A G 15: 76,248,301 Y116C probably damaging Het
Hectd4 T A 5: 121,322,700 L914H probably damaging Het
Il17re T C 6: 113,462,973 probably benign Het
Ivl G A 3: 92,571,655 Q368* probably null Het
Kbtbd8 A G 6: 95,118,676 H73R probably benign Het
Magea3 A T X: 154,949,141 M122K probably damaging Het
Mapk8ip3 T C 17: 24,918,029 D237G probably damaging Het
Nln T C 13: 104,061,741 probably null Het
Nlrp4d T C 7: 10,364,147 Y853C noncoding transcript Het
Nol11 T C 11: 107,189,172 D29G probably benign Het
Nr3c2 C T 8: 77,187,537 L791F probably damaging Het
Olfm3 T C 3: 115,122,633 Y385H probably damaging Het
Olfr126 C T 17: 37,851,138 P182L possibly damaging Het
Olfr1475 G A 19: 13,480,090 A36V probably benign Het
Olfr570 A G 7: 102,901,265 I299M possibly damaging Het
Pklr G T 3: 89,144,995 G505C probably damaging Het
Plxna2 A G 1: 194,790,161 E1071G possibly damaging Het
Prkcq G T 2: 11,226,955 A30S probably damaging Het
Rilpl1 A G 5: 124,503,649 F104L probably damaging Het
Rsph6a C T 7: 19,054,845 T34I probably benign Het
Sec23ip C T 7: 128,750,245 P12L probably damaging Het
Slc25a21 A C 12: 56,738,495 V199G probably damaging Het
Smc1b T C 15: 85,114,776 E483G probably damaging Het
Sucnr1 T C 3: 60,086,411 M120T possibly damaging Het
Tas2r116 T C 6: 132,855,433 probably benign Het
Tbrg4 T A 11: 6,618,522 Q419L possibly damaging Het
Tc2n A G 12: 101,649,089 probably benign Het
Tgfbr2 A C 9: 116,109,669 S388R probably damaging Het
Vmn2r1 A G 3: 64,081,853 E71G probably damaging Het
Xylt1 G T 7: 117,548,993 R264L probably damaging Het
Other mutations in Xpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Xpc APN 6 91492264 unclassified probably benign
IGL01108:Xpc APN 6 91493005 missense probably damaging 1.00
IGL01310:Xpc APN 6 91490107 missense probably benign 0.02
IGL01323:Xpc APN 6 91492353 missense probably damaging 1.00
IGL01350:Xpc APN 6 91500011 missense probably benign 0.01
IGL01922:Xpc APN 6 91505425 missense probably damaging 1.00
IGL02412:Xpc APN 6 91499785 missense probably benign 0.01
IGL02448:Xpc APN 6 91515744 missense probably benign 0.00
IGL02571:Xpc APN 6 91504071 missense probably benign 0.00
IGL02937:Xpc APN 6 91500137 missense probably damaging 1.00
IGL02951:Xpc APN 6 91506849 missense probably damaging 1.00
IGL03033:Xpc APN 6 91491315 splice site probably null
IGL03248:Xpc APN 6 91504583 missense probably damaging 0.99
IGL03046:Xpc UTSW 6 91510481 missense probably damaging 1.00
R0031:Xpc UTSW 6 91491226 missense probably benign 0.01
R0173:Xpc UTSW 6 91504735 unclassified probably benign
R0285:Xpc UTSW 6 91498064 missense probably damaging 0.99
R0454:Xpc UTSW 6 91491226 missense probably benign 0.01
R0535:Xpc UTSW 6 91504578 missense possibly damaging 0.92
R0554:Xpc UTSW 6 91491226 missense probably benign 0.01
R0759:Xpc UTSW 6 91498142 missense probably damaging 0.99
R1426:Xpc UTSW 6 91493238 missense probably damaging 1.00
R1478:Xpc UTSW 6 91508528 missense possibly damaging 0.94
R1676:Xpc UTSW 6 91492947 missense possibly damaging 0.56
R1969:Xpc UTSW 6 91501025 splice site probably null
R2138:Xpc UTSW 6 91498122 nonsense probably null
R2237:Xpc UTSW 6 91498108 missense probably damaging 1.00
R4580:Xpc UTSW 6 91500011 missense probably benign 0.01
R5318:Xpc UTSW 6 91493010 missense probably damaging 1.00
R5567:Xpc UTSW 6 91498135 missense probably damaging 1.00
R5681:Xpc UTSW 6 91504120 missense probably damaging 1.00
R6022:Xpc UTSW 6 91499636 missense probably damaging 0.96
R6791:Xpc UTSW 6 91506857 missense probably benign 0.01
R6794:Xpc UTSW 6 91506857 missense probably benign 0.01
R6983:Xpc UTSW 6 91504023 missense probably damaging 0.99
R7214:Xpc UTSW 6 91492338 missense probably damaging 1.00
R7442:Xpc UTSW 6 91504649 missense probably damaging 1.00
R7524:Xpc UTSW 6 91499531 missense probably benign 0.23
R7581:Xpc UTSW 6 91498017 splice site probably benign
R8002:Xpc UTSW 6 91492305 missense probably damaging 0.98
R8992:Xpc UTSW 6 91500974 missense possibly damaging 0.88
Posted On2014-01-21