Mutagenetix > Incidental Mutation

Incidental Mutation 'R7524:Xpc'

582844

Institutional Source

Beutler Lab

Gene Symbol

Xpc

Ensembl Gene

ENSMUSG00000030094

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

MMRRC Submission

045596-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91466287-91492870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91476513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 529 (C529S)

Ref Sequence

ENSEMBL: ENSMUSP00000032182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032182]

AlphaFold

P51612

Predicted Effect

probably benign
Transcript: ENSMUST00000032182
AA Change: C529S

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: C529S

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,395 (GRCm39)	C353Y	probably damaging	Het
Afap1l2	T	A	19: 56,906,543 (GRCm39)	E452V	probably damaging	Het
Ak6	A	G	13: 100,800,415 (GRCm39)	D45G	probably benign	Het
Arhgap17	G	A	7: 122,905,643 (GRCm39)	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259 (GRCm39)		probably null	Het
Bend7	A	G	2: 4,804,791 (GRCm39)	T424A	probably benign	Het
Btbd2	C	T	10: 80,482,278 (GRCm39)	E241K	probably damaging	Het
Commd2	A	C	3: 57,557,569 (GRCm39)	L99W	probably damaging	Het
Cpne9	A	T	6: 113,279,025 (GRCm39)	D473V	probably damaging	Het
Cuzd1	A	T	7: 130,913,347 (GRCm39)	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,340,146 (GRCm39)	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,423,470 (GRCm39)	Q234L	probably benign	Het
Dennd3	T	G	15: 73,396,095 (GRCm39)	Y201*	probably null	Het
Dnah17	T	C	11: 118,012,307 (GRCm39)	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,212 (GRCm39)	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,095,082 (GRCm39)	D2167G	probably damaging	Het
Dst	T	C	1: 34,330,974 (GRCm39)	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,387,020 (GRCm39)	Y736H	probably damaging	Het
Eri2	C	G	7: 119,384,972 (GRCm39)	V510L	probably benign	Het
Eya2	G	A	2: 165,611,246 (GRCm39)		probably null	Het
Fastkd5	G	T	2: 130,458,048 (GRCm39)	Q181K	probably benign	Het
Fcgbp	T	C	7: 27,802,391 (GRCm39)	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,845,725 (GRCm39)	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181 (GRCm39)	S304T	probably benign	Het
Gtf2a2	T	A	9: 69,922,629 (GRCm39)	Y3*	probably null	Het
Hagh	G	A	17: 25,080,314 (GRCm39)	V226I	probably benign	Het
Hemk1	T	A	9: 107,205,484 (GRCm39)	I293F	probably benign	Het
Kcna3	A	G	3: 106,944,523 (GRCm39)	E262G	probably damaging	Het
Kcnt2	A	T	1: 140,511,793 (GRCm39)	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,989,340 (GRCm39)	H7Q	probably damaging	Het
Knl1	A	T	2: 118,896,460 (GRCm39)	Q94L	probably damaging	Het
Krt12	T	C	11: 99,310,485 (GRCm39)	D224G	probably damaging	Het
Lats1	T	A	10: 7,577,742 (GRCm39)	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map1a	G	A	2: 121,120,293 (GRCm39)	V60M	probably damaging	Het
Mms22l	T	A	4: 24,536,138 (GRCm39)	F536I	possibly damaging	Het
Ms4a14	T	C	19: 11,281,200 (GRCm39)	T453A	unknown	Het
Muc3a	A	C	5: 137,245,020 (GRCm39)	I151S	probably benign	Het
Myorg	C	A	4: 41,498,779 (GRCm39)	V284L	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4c112	T	A	2: 88,854,315 (GRCm39)	I11L	probably benign	Het
Or4c125	A	G	2: 89,170,221 (GRCm39)	C142R	probably benign	Het
Or4e5	T	C	14: 52,727,750 (GRCm39)	I224V	probably damaging	Het
Or5ar1	T	A	2: 85,671,701 (GRCm39)	M145L	probably benign	Het
Or6z7	T	C	7: 6,483,586 (GRCm39)	N190D	probably benign	Het
Or7a42	T	A	10: 78,791,325 (GRCm39)	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,854,661 (GRCm39)	D352V	probably benign	Het
Pced1a	A	G	2: 130,263,948 (GRCm39)	F235L	probably benign	Het
Pclo	A	G	5: 14,728,317 (GRCm39)	I2392V	unknown	Het
Pld1	A	T	3: 28,078,470 (GRCm39)	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,241,720 (GRCm39)	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,724,917 (GRCm39)	L93H	probably damaging	Het
Psg20	T	C	7: 18,418,584 (GRCm39)	D61G	probably benign	Het
Rab40b	T	A	11: 121,278,878 (GRCm39)	I31F	probably damaging	Het
Rasd2	T	C	8: 75,948,709 (GRCm39)	F212L	probably benign	Het
Rbl2	A	G	8: 91,841,821 (GRCm39)	I1006V	probably benign	Het
Sema6c	A	G	3: 95,074,371 (GRCm39)	E59G	probably benign	Het
Slc22a2	G	T	17: 12,824,944 (GRCm39)	V269L	possibly damaging	Het
Slc2a1	C	T	4: 118,989,809 (GRCm39)	P149S	probably damaging	Het
Smad4	T	G	18: 73,808,942 (GRCm39)	E108D	probably damaging	Het
Sorbs2	T	A	8: 46,248,693 (GRCm39)	I648K	probably benign	Het
Suclg1	A	T	6: 73,240,824 (GRCm39)	I118F	probably damaging	Het
Tasor	T	A	14: 27,188,160 (GRCm39)	C869S	probably damaging	Het
Tet2	A	G	3: 133,185,990 (GRCm39)	I1149T	probably benign	Het
Tfr2	T	A	5: 137,569,751 (GRCm39)	Y82*	probably null	Het
Tfr2	G	T	5: 137,581,751 (GRCm39)	V613L	probably benign	Het
Tg	A	T	15: 66,568,010 (GRCm39)	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,821,039 (GRCm39)	M170L	probably benign	Het
Trim71	T	C	9: 114,342,230 (GRCm39)	N684S	probably benign	Het
Tspan9	A	G	6: 127,942,214 (GRCm39)	I212T	probably benign	Het
Ttn	A	G	2: 76,773,319 (GRCm39)	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,765,827 (GRCm39)	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,201,848 (GRCm39)	I219V	probably benign	Het
Vmn2r76	T	C	7: 85,874,577 (GRCm39)	H800R	probably benign	Het
Vmn2r76	C	T	7: 85,879,374 (GRCm39)	G309R	probably benign	Het
Zfp455	T	A	13: 67,355,688 (GRCm39)	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,041,823 (GRCm39)	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,049,271 (GRCm39)	I490N	probably damaging	Het

Other mutations in Xpc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CGATAGGGTCTCAAGGTCTCAG -3'
(R):5'- CTGGGTCTAAGAGTGCTTCC -3'

Sequencing Primer
(F):5'- GTCTCAAGGTCTCAGCCCAC -3'
(R):5'- CTGGGTCTAAGAGTGCTTCCAAGAC -3'

Posted On

2019-10-17