Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Xpc'

684479

Institutional Source

Beutler Lab

Gene Symbol

Xpc

Ensembl Gene

ENSMUSG00000030094

Gene Name

xeroderma pigmentosum, complementation group C

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91489305-91515888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91500974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 309 (T309I)

Ref Sequence

ENSEMBL: ENSMUSP00000032182 (fasta)

Gene Model

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

AlphaFold

P51612

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032182
AA Change: T309I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094
AA Change: T309I

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,451,618	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282	D4E	probably benign	Het
Atpif1	T	C	4: 132,533,374	D34G	probably benign	Het
Bcr	T	C	10: 75,131,572	F546S	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc141	A	T	2: 77,014,395	W1443R	probably damaging	Het
Chd7	A	G	4: 8,839,589	D1375G	probably damaging	Het
Chil1	A	T	1: 134,187,924	Q223H	probably benign	Het
Clcn2	A	T	16: 20,712,330	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,235	D464V	probably benign	Het
Crygb	T	C	1: 65,082,141	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,925,390	K438E	unknown	Het
Cyp46a1	A	T	12: 108,358,107	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,776,756		probably benign	Het
Dnase2b	G	T	3: 146,586,962	P152Q	probably damaging	Het
Duox1	A	T	2: 122,344,705	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fam168b	A	G	1: 34,819,781	F102L	probably benign	Het
Fam3b	T	A	16: 97,476,394	D128V	probably damaging	Het
Galnt11	T	G	5: 25,264,985	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,610,969	R460S	probably benign	Het
Gm7534	G	A	4: 134,202,667	T109I	probably damaging	Het
Hdhd2	A	C	18: 76,970,670	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,401,114	M189T	probably damaging	Het
Ino80	A	G	2: 119,379,578	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,117,538	T467A	probably benign	Het
Kcnh2	A	G	5: 24,331,870	S239P	probably benign	Het
Lct	T	A	1: 128,300,562	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,629,884	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,871,490	D26E	probably benign	Het
Myh1	A	T	11: 67,205,781	M333L	probably benign	Het
Neurl4	T	C	11: 69,908,132	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,306,865	V80D	probably damaging	Het
Nop9	T	C	14: 55,745,981	S70P	possibly damaging	Het
Olfr325	A	G	11: 58,580,912	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,449,178	D446Y	probably damaging	Het
Pclo	C	T	5: 14,669,311	A1154V	unknown	Het
Pdgfa	G	T	5: 138,986,222	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,075,533	L1133F	probably damaging	Het
Pole	A	T	5: 110,323,622	N1411Y	possibly damaging	Het
Primpol	A	G	8: 46,581,562		probably benign	Het
Psmc5	T	G	11: 106,261,961	V203G	probably damaging	Het
Ptgdr	C	T	14: 44,858,724	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,907,295	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,690,081	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,454,277	T857A	probably damaging	Het
Rnf24	A	G	2: 131,313,277	F10S	possibly damaging	Het
Rreb1	C	A	13: 37,930,376	S570R	probably benign	Het
Rttn	A	G	18: 88,977,708	N205S	probably benign	Het
Rusc1	T	C	3: 89,092,058	E139G	probably benign	Het
Scn2a	A	G	2: 65,763,898	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 107,047,177	M209L	probably damaging	Het
Shank3	A	G	15: 89,548,685	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,542,484	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,336,942	W548*	probably null	Het
Srfbp1	T	A	18: 52,476,320	L59*	probably null	Het
Ss18	A	T	18: 14,670,323	S73T	probably damaging	Het
Syne1	T	C	10: 5,185,508	K189R	probably benign	Het
Szt2	G	T	4: 118,382,788		probably benign	Het
Tbx1	T	A	16: 18,584,187	H183L	probably damaging	Het
Thop1	A	G	10: 81,080,138	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,850	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559	Y513H	probably damaging	Het
Top1	A	G	2: 160,721,001	D709G	probably damaging	Het
Tprgl	A	C	4: 154,158,433	S247A	probably damaging	Het
Trim46	A	G	3: 89,236,385	S602P	probably damaging	Het
Ttc30a1	A	T	2: 75,979,907	C611S	probably benign	Het
Ttc7b	T	C	12: 100,500,174	K60E	probably benign	Het
Ttn	G	A	2: 76,884,471	S8053F	unknown	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp24	T	A	4: 106,377,565	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Zfp560	C	T	9: 20,349,599	M129I	probably benign	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
IGL01656:Xpc	APN	6	91505467	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- GCTCAGGCTGCATGAATATCTAC -3'
(R):5'- GTCTCTGCAGCATCACTTACAAC -3'

Sequencing Primer
(F):5'- AATATGACCCTGATCGGCTG -3'
(R):5'- TTACAACAGTCTCCCGAGGG -3'

Posted On

2021-10-11