Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Xpc'

23709

Institutional Source

Beutler Lab

Gene Symbol

Xpc

Ensembl Gene

ENSMUSG00000030094

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

MMRRC Submission

038445-MU

Accession Numbers

Essential gene?

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

Stock #

R0173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91466287-91492870 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 91481717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000206476]

AlphaFold

P51612

Predicted Effect

probably benign
Transcript: ENSMUST00000032182

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094

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

probably benign
Transcript: ENSMUST00000150279

Predicted Effect

probably benign
Transcript: ENSMUST00000206476

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Akt1s1	C	T	7: 44,502,284 (GRCm39)	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,735,222 (GRCm39)	R374S	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Qprt	C	T	7: 126,707,543 (GRCm39)	G215E	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slc48a1	A	T	15: 97,688,555 (GRCm39)	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,919 (GRCm39)	S1227P	probably damaging	Het
Vipas39	A	G	12: 87,297,285 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	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
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'- TGCCAACTGACCACTTCAGGAGAG -3'
(R):5'- GCGGGACACAAAGCCTTGGAATATG -3'

Sequencing Primer
(F):5'- CGAGTACAGTAGATGGCCTTACC -3'
(R):5'- ATGGCTGATGACATATTCCTTCG -3'

Posted On

2013-04-16