Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Xpc'

577012

Institutional Source

Beutler Lab

Gene Symbol

Xpc

Ensembl Gene

ENSMUSG00000030094

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

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

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91466287-91492870 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91481631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 230 (L230P)

Ref Sequence

ENSEMBL: ENSMUSP00000032182 (fasta)

Gene Model

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

AlphaFold

P51612

Predicted Effect

probably damaging
Transcript: ENSMUST00000032182
AA Change: L230P

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

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: L230P

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: ENSMUST00000206476

Coding Region Coverage

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

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,919 (GRCm39)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,645,509 (GRCm39)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,990,078 (GRCm39)	F753L	probably damaging	Het
Adam9	A	T	8: 25,457,223 (GRCm39)	V635E	probably damaging	Het
Adgre4	T	A	17: 56,159,340 (GRCm39)	V675E	probably benign	Het
Anapc4	T	C	5: 53,014,543 (GRCm39)	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,561,268 (GRCm39)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,121,172 (GRCm39)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,563,739 (GRCm39)	T237A	probably benign	Het
Asah1	T	C	8: 41,796,602 (GRCm39)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,866,820 (GRCm39)	R231H	probably benign	Het
Bod1l	G	A	5: 41,964,522 (GRCm39)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,979,084 (GRCm39)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,497,513 (GRCm39)	S2132A	probably benign	Het
Caps2	G	T	10: 112,044,259 (GRCm39)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,097,868 (GRCm39)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,556,754 (GRCm39)	T18A	probably benign	Het
Cdk8	T	C	5: 146,229,579 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,932,072 (GRCm39)	I127N	unknown	Het
Dsc3	T	C	18: 20,114,213 (GRCm39)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,695,786 (GRCm39)	S491G	probably damaging	Het
Edem1	T	A	6: 108,828,266 (GRCm39)	Y530*	probably null	Het
Enc1	A	T	13: 97,383,248 (GRCm39)	H586L	probably benign	Het
Ephb6	T	G	6: 41,594,981 (GRCm39)		probably null	Het
Etv5	G	T	16: 22,254,809 (GRCm39)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 106,019,558 (GRCm39)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,245,132 (GRCm39)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,782,490 (GRCm39)	S241P	unknown	Het
Gm49380	T	A	9: 44,023,709 (GRCm39)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,593,903 (GRCm39)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,554,997 (GRCm39)	S895N	probably benign	Het
Igf1r	G	A	7: 67,823,026 (GRCm39)	V385M	probably damaging	Het
Ints9	C	T	14: 65,232,513 (GRCm39)	Q191*	probably null	Het
Ktn1	A	G	14: 47,952,097 (GRCm39)	E979G	probably benign	Het
Lama3	G	A	18: 12,605,238 (GRCm39)		probably null	Het
Lrtm2	C	T	6: 119,294,392 (GRCm39)	M246I	probably damaging	Het
Mdm1	T	C	10: 117,982,590 (GRCm39)	V75A	probably benign	Het
Mia3	T	C	1: 183,140,220 (GRCm39)	E165G	probably benign	Het
Mrps21	T	C	3: 95,770,128 (GRCm39)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,362,155 (GRCm39)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Myo16	G	A	8: 10,322,537 (GRCm39)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,816,798 (GRCm39)	D134A	probably benign	Het
Obox1	G	T	7: 15,289,491 (GRCm39)	K93N	probably benign	Het
Or12d2	T	A	17: 37,624,816 (GRCm39)	H153L	possibly damaging	Het
Or2r3	A	T	6: 42,448,434 (GRCm39)	M226K	probably benign	Het
Or56a4	T	C	7: 104,806,289 (GRCm39)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,672,096 (GRCm39)	V13D	probably benign	Het
Pkd2l1	T	C	19: 44,145,668 (GRCm39)	H185R	probably benign	Het
Ptpn18	A	G	1: 34,501,831 (GRCm39)	T48A	probably benign	Het
Ptprd	A	T	4: 75,978,058 (GRCm39)	Y583*	probably null	Het
Ptprk	G	A	10: 28,450,815 (GRCm39)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,656,700 (GRCm39)	F206L	probably damaging	Het
Slain1	A	G	14: 103,923,150 (GRCm39)	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,139,086 (GRCm39)	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,256,819 (GRCm39)	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,115,919 (GRCm39)	V685A	probably benign	Het
Srp54c	T	A	12: 55,302,347 (GRCm39)	Y333N	probably damaging	Het
Srrm2	T	C	17: 24,039,091 (GRCm39)	S1912P	unknown	Het
St7l	A	G	3: 104,796,645 (GRCm39)	T253A	possibly damaging	Het
Styxl2	T	C	1: 165,928,584 (GRCm39)	K343E	probably benign	Het
Sun3	T	G	11: 8,981,445 (GRCm39)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,965,561 (GRCm39)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,370,781 (GRCm39)	S648R	probably damaging	Het
Tmem178	T	A	17: 81,252,185 (GRCm39)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,689 (GRCm39)	G22W	probably damaging	Het
Top3a	C	T	11: 60,644,744 (GRCm39)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,673,719 (GRCm39)	D243E	probably damaging	Het
Trim42	C	T	9: 97,244,998 (GRCm39)	V601M	probably damaging	Het
Ttn	A	G	2: 76,573,350 (GRCm39)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 12,835,983 (GRCm39)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,793,662 (GRCm39)	F2S	probably benign	Het
Xpo4	A	G	14: 57,867,680 (GRCm39)	V189A	probably benign	Het
Zfhx3	A	G	8: 109,519,468 (GRCm39)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,667,710 (GRCm39)	K321E	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
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'- AATGTCATGCCCCTTCCTGATG -3'
(R):5'- GGCTGATGACATATTCCTTCGC -3'

Sequencing Primer
(F):5'- TGATGCCAACTGACCACTTC -3'
(R):5'- TGCACTGCTATGTGTAGAAGCAC -3'

Posted On

2019-10-07