Incidental Mutation 'IGL02951:Xpc'
ID 365972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpc
Ensembl Gene ENSMUSG00000030094
Gene Name xeroderma pigmentosum, complementation group C
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # IGL02951
Quality Score
Status
Chromosome 6
Chromosomal Location 91466287-91492870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91483831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 172 (R172W)
Ref Sequence ENSEMBL: ENSMUSP00000032182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000206476]
AlphaFold P51612
Predicted Effect probably damaging
Transcript: ENSMUST00000032182
AA Change: R172W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: R172W

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: R170W
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,290,536 (GRCm39) probably benign Het
Acot10 G A 15: 20,665,868 (GRCm39) T291I probably benign Het
Adam34l T G 8: 44,080,125 (GRCm39) H33P possibly damaging Het
Atp13a3 A G 16: 30,157,439 (GRCm39) probably null Het
Atp2a1 C T 7: 126,049,399 (GRCm39) V548M possibly damaging Het
Bsn G A 9: 107,992,812 (GRCm39) S980L probably damaging Het
Ccdc158 A G 5: 92,797,865 (GRCm39) M425T probably damaging Het
Cdh23 A G 10: 60,147,143 (GRCm39) L2733S probably damaging Het
Chd3 C T 11: 69,251,874 (GRCm39) probably null Het
Cimap1d T C 10: 79,475,811 (GRCm39) N251S probably benign Het
Dock2 T C 11: 34,260,448 (GRCm39) probably benign Het
Elfn2 T C 15: 78,556,082 (GRCm39) K822E probably damaging Het
Eps15l1 G A 8: 73,112,240 (GRCm39) S764L probably benign Het
Etl4 C A 2: 20,806,348 (GRCm39) probably benign Het
Faap24 C A 7: 35,092,376 (GRCm39) K180N probably damaging Het
Fhod1 G A 8: 106,057,862 (GRCm39) R888W probably damaging Het
Fus T C 7: 127,581,009 (GRCm39) probably benign Het
Gm3453 T C 14: 5,976,168 (GRCm38) E201G possibly damaging Het
Gnpat G T 8: 125,597,644 (GRCm39) D69Y probably benign Het
Gpaa1 T A 15: 76,217,019 (GRCm39) probably benign Het
Gsta1 A T 9: 78,149,819 (GRCm39) K211* probably null Het
Lct G T 1: 128,227,948 (GRCm39) Q1182K probably damaging Het
Mroh1 T C 15: 76,311,836 (GRCm39) L523P probably damaging Het
Mrpl46 A G 7: 78,425,200 (GRCm39) probably benign Het
Mst1r G T 9: 107,785,403 (GRCm39) V354F possibly damaging Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo6 G A 9: 80,171,516 (GRCm39) V506I possibly damaging Het
Nadk A C 4: 155,671,933 (GRCm39) K271Q probably benign Het
Nbas A G 12: 13,412,542 (GRCm39) R954G probably benign Het
Nbr1 T A 11: 101,462,805 (GRCm39) probably null Het
Nup88 T C 11: 70,835,698 (GRCm39) D587G possibly damaging Het
Oas1a A T 5: 121,043,727 (GRCm39) F135Y probably damaging Het
Obscn A G 11: 58,885,339 (GRCm39) probably benign Het
Or4k42 T G 2: 111,320,465 (GRCm39) I13L probably benign Het
Parp14 G A 16: 35,678,903 (GRCm39) T355I probably benign Het
Pdgfd G T 9: 6,288,494 (GRCm39) L43F probably damaging Het
Pou5f2 T C 13: 78,173,237 (GRCm39) S60P probably benign Het
Prp2 A G 6: 132,576,788 (GRCm39) N25S unknown Het
Ptprq A T 10: 107,503,321 (GRCm39) F779Y probably benign Het
Rims2 C T 15: 39,398,334 (GRCm39) R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 (GRCm39) S425* probably null Het
Rps21 T A 2: 179,899,840 (GRCm39) I59N probably damaging Het
Scn5a A T 9: 119,324,751 (GRCm39) F1359Y probably damaging Het
Slc35b2 A G 17: 45,875,694 (GRCm39) E67G probably damaging Het
Slc37a2 A G 9: 37,166,611 (GRCm39) F15L probably benign Het
Snapc4 A C 2: 26,260,847 (GRCm39) N465K probably benign Het
Spata31f1a C T 4: 42,850,696 (GRCm39) E487K probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taco1 A G 11: 105,960,353 (GRCm39) N98S probably benign Het
Tcea3 T C 4: 135,985,299 (GRCm39) probably null Het
Thada T C 17: 84,751,456 (GRCm39) S507G probably benign Het
Tmem132b T A 5: 125,864,611 (GRCm39) C906S probably damaging Het
Trpm2 A T 10: 77,765,112 (GRCm39) I963N possibly damaging Het
Usp10 A G 8: 120,673,825 (GRCm39) T397A probably benign Het
Usp3 G A 9: 66,449,832 (GRCm39) R160* probably null Het
Utp15 T C 13: 98,394,460 (GRCm39) Y144C 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
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
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
Posted On 2015-12-18