Mutagenetix > Incidental Mutation

Incidental Mutation 'R2237:Xpc'

240451

Institutional Source

Beutler Lab

Gene Symbol

Xpc

Ensembl Gene

ENSMUSG00000030094

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

MMRRC Submission

040237-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R2237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91466287-91492870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91475090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 643 (H643R)

Gene Model

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

AlphaFold

P51612

Predicted Effect

probably damaging
Transcript: ENSMUST00000032182
AA Change: H645R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: H645R

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 damaging
Transcript: ENSMUST00000150279
AA Change: H643R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Alox8	A	C	11: 69,076,597 (GRCm39)	S572A	probably benign	Het
Aoah	G	A	13: 20,978,481 (GRCm39)		probably benign	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,637,477 (GRCm39)	Y395F	probably damaging	Het
Bard1	G	A	1: 71,114,135 (GRCm39)	P282L	probably damaging	Het
Brd7	T	A	8: 89,073,541 (GRCm39)	E283V	probably benign	Het
Btbd9	T	C	17: 30,553,302 (GRCm39)	I387V	probably benign	Het
Cacna1a	T	C	8: 85,360,394 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,629,704 (GRCm39)	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,273,069 (GRCm39)	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,834,219 (GRCm39)	F261L	probably benign	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdca7l	A	G	12: 117,837,761 (GRCm39)	E237G	probably damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Clhc1	T	G	11: 29,519,329 (GRCm39)	S379A	probably benign	Het
Dbf4	T	A	5: 8,458,542 (GRCm39)	I158L	possibly damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dlec1	T	C	9: 118,967,259 (GRCm39)		probably null	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Espl1	G	A	15: 102,224,004 (GRCm39)	R1185H	probably damaging	Het
Evc2	T	C	5: 37,535,527 (GRCm39)	S401P	probably benign	Het
Fbxw15	A	G	9: 109,384,303 (GRCm39)	S403P	probably damaging	Het
Hsd17b1	G	A	11: 100,970,652 (GRCm39)	V236M	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Itpripl2	T	C	7: 118,089,294 (GRCm39)	T422A	probably benign	Het
Izumo4	T	C	10: 80,538,664 (GRCm39)	S39P	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kctd8	T	A	5: 69,267,752 (GRCm39)	I453F	probably damaging	Het
Kif5c	A	G	2: 49,584,020 (GRCm39)	T152A	probably benign	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
L3mbtl2	A	T	15: 81,568,531 (GRCm39)	T512S	probably benign	Het
Ltbp1	C	A	17: 75,617,158 (GRCm39)	D1032E	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Muc5b	T	G	7: 141,415,826 (GRCm39)	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nid1	T	C	13: 13,675,070 (GRCm39)	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5m	A	G	11: 59,743,696 (GRCm39)	K108R	probably benign	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or13p3	A	G	4: 118,567,192 (GRCm39)	D196G	probably damaging	Het
Osbpl9	T	A	4: 109,013,854 (GRCm39)	Q80L	probably damaging	Het
Osm	A	G	11: 4,188,505 (GRCm39)	N44S	possibly damaging	Het
Pclo	C	T	5: 14,763,952 (GRCm39)	P4142S	unknown	Het
Pdlim2	T	G	14: 70,408,698 (GRCm39)	T173P	probably benign	Het
Pex1	T	C	5: 3,668,915 (GRCm39)		probably null	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,172,877 (GRCm39)	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,558,893 (GRCm39)	Y183*	probably null	Het
Ryr2	T	A	13: 11,677,146 (GRCm39)	E3235V	probably benign	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Siglecf	T	C	7: 43,004,409 (GRCm39)	V246A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata31e2	A	T	1: 26,724,241 (GRCm39)	M313K	possibly damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tas1r3	A	T	4: 155,946,675 (GRCm39)	M310K	possibly damaging	Het
Tenm3	G	A	8: 48,795,372 (GRCm39)	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Ttll2	G	A	17: 7,619,522 (GRCm39)	T135I	probably benign	Het
Ubr4	A	G	4: 139,170,101 (GRCm39)	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,004,104 (GRCm39)	E106K	probably damaging	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	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
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'- AAGCCTTAGCAGACTGAGCC -3'
(R):5'- GGTGTCACCAAGTTGCTGATG -3'

Sequencing Primer
(F):5'- CCACTCTACTAAAGGTCTTCATGGG -3'
(R):5'- CACCAAGTTGCTGATGGGTCTG -3'

Posted On

2014-10-15