Incidental Mutation 'IGL03046:Xpc'
ID 391854
Institutional Source Beutler Lab
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 # IGL03046 (G1)
Quality Score 206
Status Validated
Chromosome 6
Chromosomal Location 91466287-91492870 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91487463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 89 (A89E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000206476]
AlphaFold P51612
Predicted Effect possibly damaging
Transcript: ENSMUST00000032182
AA Change: A91E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: A91E

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: A89E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206476
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (54/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,282 (GRCm39) M717K probably benign Het
Acad12 C A 5: 121,748,029 (GRCm39) V130L probably benign Het
Cdca2 T C 14: 67,937,471 (GRCm39) probably benign Het
Cfap100 T A 6: 90,389,332 (GRCm39) probably null Het
Cfap43 T A 19: 47,804,302 (GRCm39) E298V probably damaging Het
Cic C T 7: 24,990,500 (GRCm39) P1971S probably damaging Het
Cnga1 T C 5: 72,761,681 (GRCm39) D611G probably benign Het
Daglb C T 5: 143,486,948 (GRCm39) P522L probably damaging Het
Dclre1b A T 3: 103,710,597 (GRCm39) I438K probably benign Het
Ddx5 C A 11: 106,675,871 (GRCm39) R273M probably damaging Het
Eepd1 C T 9: 25,393,981 (GRCm39) L82F probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Exoc6 T C 19: 37,582,217 (GRCm39) probably null Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxs1 T C 2: 152,774,484 (GRCm39) T190A probably benign Het
Gje1 A G 10: 14,592,374 (GRCm39) L136P probably damaging Het
Hdac11 A G 6: 91,145,827 (GRCm39) T176A probably benign Het
Hhip C A 8: 80,698,967 (GRCm39) V700L probably damaging Het
Hps5 T C 7: 46,426,463 (GRCm39) probably benign Het
Itgb1bp1 T C 12: 21,329,436 (GRCm39) S13G unknown Het
Kcna1 A T 6: 126,619,148 (GRCm39) L391M possibly damaging Het
Kif1a C T 1: 93,010,128 (GRCm39) V6M probably damaging Het
Klhl6 T C 16: 19,801,639 (GRCm39) I39V probably benign Het
Lpcat4 C A 2: 112,072,334 (GRCm39) silent Het
Ltn1 A T 16: 87,202,509 (GRCm39) S1047R probably benign Het
Mdn1 A G 4: 32,694,495 (GRCm39) T1073A possibly damaging Het
Megf10 G T 18: 57,421,055 (GRCm39) A898S possibly damaging Het
Mtmr6 T C 14: 60,529,577 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,059 (GRCm39) I333M probably benign Het
Muc5ac G T 7: 141,348,950 (GRCm39) C463F probably benign Het
Mycbpap G T 11: 94,396,543 (GRCm39) T99N possibly damaging Het
Myo7a C T 7: 97,728,534 (GRCm39) C824Y probably damaging Het
N4bp2 A G 5: 65,948,303 (GRCm39) H311R probably damaging Het
Nepro T A 16: 44,552,509 (GRCm39) probably benign Het
Nop56 A T 2: 130,117,489 (GRCm39) probably benign Het
Nup210 A G 6: 90,995,978 (GRCm39) probably benign Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or7g25 T A 9: 19,160,441 (GRCm39) I85F probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pgap6 A T 17: 26,338,414 (GRCm39) probably null Het
Pkhd1 T G 1: 20,607,589 (GRCm39) D1089A possibly damaging Het
Plb1 A G 5: 32,485,756 (GRCm39) R847G probably damaging Het
Pou6f2 A G 13: 18,303,612 (GRCm39) probably benign Het
Prss43 C G 9: 110,660,049 (GRCm39) S371C probably benign Het
Ralgapa1 A T 12: 55,741,942 (GRCm39) V1322D probably damaging Het
Rrp8 A G 7: 105,384,109 (GRCm39) V131A probably benign Het
Rtp1 A T 16: 23,248,044 (GRCm39) K39M probably benign Het
Sanbr A T 11: 23,565,150 (GRCm39) L279Q possibly damaging Het
Slc1a6 A G 10: 78,636,008 (GRCm39) I358V probably benign Het
Slc25a15 T C 8: 22,885,726 (GRCm39) probably benign Het
Slc43a1 G A 2: 84,684,897 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spock3 T G 8: 63,802,018 (GRCm39) probably null Het
Tbc1d7 T C 13: 43,308,162 (GRCm39) probably null Het
Tmem184c C T 8: 78,326,286 (GRCm39) W260* probably null Het
Trnau1ap A G 4: 132,039,252 (GRCm39) Y265H probably damaging Het
Usp25 T C 16: 76,871,754 (GRCm39) F363S probably damaging Het
Vcl T C 14: 21,072,085 (GRCm39) F817L possibly damaging Het
Vmn1r13 T A 6: 57,187,717 (GRCm39) M292K 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
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
Predicted Primers PCR Primer
(F):5'- GCTGCCATTGAACTCATCAGAAAC -3'
(R):5'- CTTGCCCATAAGTCACACCG -3'

Sequencing Primer
(F):5'- TTGAACTCATCAGAAACTGAGGC -3'
(R):5'- GTTGTCACCCAGATGACTTTGAAG -3'
Posted On 2016-06-07