Incidental Mutation 'IGL01350:Xpc'
ID75313
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 #IGL01350
Quality Score
Status
Chromosome6
Chromosomal Location91489305-91515888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91500011 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 369 (S369P)
Ref Sequence ENSEMBL: ENSMUSP00000032182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182]
AlphaFold P51612
Predicted Effect probably benign
Transcript: ENSMUST00000032182
AA Change: S369P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: S369P

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: S367P
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,458 I926T probably benign Het
Adam39 T A 8: 40,825,839 C422* probably null Het
Aldh1l1 A G 6: 90,559,356 N81S probably damaging Het
Amd1 A T 10: 40,290,190 Y264* probably null Het
Axl T C 7: 25,758,750 Y851C probably damaging Het
Ccdc70 T C 8: 21,973,674 L160P probably damaging Het
Cd2ap A T 17: 42,825,921 Y273* probably null Het
Cyb5rl T C 4: 107,084,212 V278A possibly damaging Het
Cyp2c29 T C 19: 39,330,327 F417S probably damaging Het
Dnah7b C A 1: 46,081,432 probably benign Het
Epha4 A T 1: 77,506,855 D172E probably damaging Het
Eya4 T A 10: 23,113,974 I495F possibly damaging Het
Gpr150 A T 13: 76,056,423 H134Q probably benign Het
Gpr153 T G 4: 152,281,966 probably benign Het
Hipk2 A G 6: 38,818,315 Y333H probably damaging Het
Jakmip1 T C 5: 37,085,431 M21T probably benign Het
Kcnh3 A T 15: 99,241,992 I920F probably benign Het
Lrp2 G A 2: 69,510,984 R951C probably damaging Het
Msi1 A G 5: 115,435,521 K126R possibly damaging Het
Nkx2-6 T A 14: 69,174,773 F130Y probably damaging Het
Olfr1045 A G 2: 86,197,805 *316Q probably null Het
Olfr478 T C 7: 108,031,680 Y221C probably damaging Het
Olfr533 G T 7: 140,466,379 M59I probably damaging Het
Onecut2 T A 18: 64,341,089 L218Q probably damaging Het
Pah T A 10: 87,578,359 probably benign Het
Per2 C T 1: 91,430,861 E602K probably damaging Het
Plb1 C T 5: 32,317,064 T623M probably damaging Het
Prkaa2 T C 4: 105,051,912 probably null Het
Prl7b1 T A 13: 27,602,821 T142S probably damaging Het
Psd3 T C 8: 67,720,892 H1090R probably damaging Het
Siglecf G T 7: 43,355,895 probably benign Het
Tas2r118 A G 6: 23,969,747 V105A probably damaging Het
Thnsl1 T C 2: 21,212,200 V255A probably benign Het
Tmprss5 T A 9: 49,109,457 *84K probably null Het
Trrap C T 5: 144,830,969 L2579F possibly damaging Het
Vdac1 A G 11: 52,385,662 T211A probably benign Het
Vmn1r16 A T 6: 57,322,731 V302D possibly damaging Het
Wdr75 T A 1: 45,818,260 C572* probably null Het
Zdhhc20 A G 14: 57,873,987 V52A probably benign Het
Zfp977 T C 7: 42,580,666 Y145C 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
IGL01656:Xpc APN 6 91505467 missense probably damaging 0.98
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 On2013-10-07