Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01656:Xpc'

102993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpc

Ensembl Gene

ENSMUSG00000030094

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

IGL01656

Quality Score

Status

Chromosome

Chromosomal Location

91489305-91515888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91505467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 176 (I176K)

Gene Model

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

AlphaFold

P51612

Predicted Effect

probably benign
Transcript: ENSMUST00000032182
AA Change: I178K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: I178K

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: I176K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206476

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,694	V123A	possibly damaging	Het
4732456N10Rik	T	A	15: 101,555,443	Q392L	probably damaging	Het
Acrbp	A	C	6: 125,053,712	E232A	possibly damaging	Het
Anapc11	T	A	11: 120,599,347	F30I	possibly damaging	Het
Ap5z1	A	G	5: 142,470,314	D318G	probably benign	Het
Cfap43	T	C	19: 47,751,900	E1278G	possibly damaging	Het
Cylc1	A	G	X: 111,123,716	T589A	probably benign	Het
Dcaf15	T	C	8: 84,097,988	I527V	probably benign	Het
Ddhd2	C	T	8: 25,727,712	V713I	probably benign	Het
Edc4	T	C	8: 105,886,377	V283A	possibly damaging	Het
Elf5	A	G	2: 103,442,861		probably benign	Het
Flnb	C	T	14: 7,902,010		probably benign	Het
Flnc	C	T	6: 29,443,508		probably benign	Het
Fstl4	T	C	11: 53,000,374	L113P	probably damaging	Het
Gemin4	C	T	11: 76,213,810	V42M	probably damaging	Het
Gm10076	A	G	14: 105,681,920		noncoding transcript	Het
Grina	A	G	15: 76,248,301	Y116C	probably damaging	Het
Hectd4	T	A	5: 121,322,700	L914H	probably damaging	Het
Il17re	T	C	6: 113,462,973		probably benign	Het
Ivl	G	A	3: 92,571,655	Q368*	probably null	Het
Kbtbd8	A	G	6: 95,118,676	H73R	probably benign	Het
Magea3	A	T	X: 154,949,141	M122K	probably damaging	Het
Mapk8ip3	T	C	17: 24,918,029	D237G	probably damaging	Het
Nln	T	C	13: 104,061,741		probably null	Het
Nlrp4d	T	C	7: 10,364,147	Y853C	noncoding transcript	Het
Nol11	T	C	11: 107,189,172	D29G	probably benign	Het
Nr3c2	C	T	8: 77,187,537	L791F	probably damaging	Het
Olfm3	T	C	3: 115,122,633	Y385H	probably damaging	Het
Olfr126	C	T	17: 37,851,138	P182L	possibly damaging	Het
Olfr1475	G	A	19: 13,480,090	A36V	probably benign	Het
Olfr570	A	G	7: 102,901,265	I299M	possibly damaging	Het
Pklr	G	T	3: 89,144,995	G505C	probably damaging	Het
Plxna2	A	G	1: 194,790,161	E1071G	possibly damaging	Het
Prkcq	G	T	2: 11,226,955	A30S	probably damaging	Het
Rilpl1	A	G	5: 124,503,649	F104L	probably damaging	Het
Rsph6a	C	T	7: 19,054,845	T34I	probably benign	Het
Sec23ip	C	T	7: 128,750,245	P12L	probably damaging	Het
Slc25a21	A	C	12: 56,738,495	V199G	probably damaging	Het
Smc1b	T	C	15: 85,114,776	E483G	probably damaging	Het
Sucnr1	T	C	3: 60,086,411	M120T	possibly damaging	Het
Tas2r116	T	C	6: 132,855,433		probably benign	Het
Tbrg4	T	A	11: 6,618,522	Q419L	possibly damaging	Het
Tc2n	A	G	12: 101,649,089		probably benign	Het
Tgfbr2	A	C	9: 116,109,669	S388R	probably damaging	Het
Vmn2r1	A	G	3: 64,081,853	E71G	probably damaging	Het
Xylt1	G	T	7: 117,548,993	R264L	probably damaging	Het

Other mutations in Xpc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01350:Xpc	APN	6	91500011	missense	probably benign	0.01
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 On

2014-01-21