Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Ercc3'

399278

Institutional Source

Beutler Lab

Gene Symbol

Ercc3

Ensembl Gene

ENSMUSG00000024382

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 3

Synonyms

XPB

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32373357-32403206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32402917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 776 (P776Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025241]

AlphaFold

P49135

Predicted Effect

probably damaging
Transcript: ENSMUST00000025241
AA Change: P776Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: P776Q

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
Pfam:Helicase_C_3	76	203	1.2e-46	PFAM
DEXDc	313	493	2.52e-18	SMART
HELICc	570	648	4.32e-8	SMART
low complexity region	707	716	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142213

Meta Mutation Damage Score

0.2066

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 39,962,746 (GRCm39)		noncoding transcript	Het
Actrt2	A	C	4: 154,752,026 (GRCm39)	S37A	possibly damaging	Het
Adcy7	T	C	8: 89,040,742 (GRCm39)	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,364,061 (GRCm39)		probably benign	Het
Arap1	A	C	7: 101,037,851 (GRCm39)	I237L	probably benign	Het
Arhgap17	A	T	7: 122,902,971 (GRCm39)	Y359N	probably benign	Het
Atad1	A	G	19: 32,651,702 (GRCm39)	M343T	probably benign	Het
Cacna1b	A	T	2: 24,609,964 (GRCm39)	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,574,930 (GRCm39)	S1914P	probably benign	Het
Cd300a	G	T	11: 114,785,577 (GRCm39)	R174L	probably benign	Het
Dip2a	G	A	10: 76,135,831 (GRCm39)	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,405,436 (GRCm39)	L283P	probably damaging	Het
Dusp1	T	C	17: 26,727,191 (GRCm39)	N36S	probably benign	Het
Dync2i2	T	A	2: 29,922,375 (GRCm39)		probably benign	Het
Etv1	A	G	12: 38,902,248 (GRCm39)	R260G	possibly damaging	Het
Fa2h	C	G	8: 112,075,869 (GRCm39)	M251I	probably benign	Het
Fcsk	T	C	8: 111,610,499 (GRCm39)	E968G	possibly damaging	Het
Flg2	A	G	3: 93,108,119 (GRCm39)	D49G	probably damaging	Het
Fras1	A	G	5: 96,888,884 (GRCm39)	E2810G	probably damaging	Het
Gabbr1	T	C	17: 37,366,805 (GRCm39)	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,667,264 (GRCm39)	T329A	probably benign	Het
Hcn4	T	A	9: 58,731,558 (GRCm39)	I255N	unknown	Het
Hk3	T	G	13: 55,158,824 (GRCm39)	D485A	probably damaging	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Kcp	C	T	6: 29,498,519 (GRCm39)		probably benign	Het
Kifc2	G	T	15: 76,550,481 (GRCm39)	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,756,584 (GRCm39)	Y142C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,596,126 (GRCm39)	I72L	probably benign	Het
Lep	T	A	6: 29,070,862 (GRCm39)	F62Y	probably damaging	Het
Lrtm1	A	G	14: 28,743,801 (GRCm39)	T90A	probably benign	Het
Mug1	A	T	6: 121,865,872 (GRCm39)	D1472V	probably benign	Het
Ncor2	G	T	5: 125,103,994 (GRCm39)	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,149,917 (GRCm39)	S508L	probably benign	Het
Obp2b	T	A	2: 25,627,155 (GRCm39)	D29E	probably benign	Het
Or10ag2	G	A	2: 87,249,012 (GRCm39)	V207M	possibly damaging	Het
Or4c109	A	G	2: 88,818,444 (GRCm39)	L34P	possibly damaging	Het
Or4c119	A	T	2: 88,986,801 (GRCm39)	C239*	probably null	Het
Or4k15b	T	C	14: 50,272,745 (GRCm39)	I38M	possibly damaging	Het
Or6c3b	A	G	10: 129,527,601 (GRCm39)	I103T	probably damaging	Het
Otof	A	G	5: 30,527,483 (GRCm39)	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,216,886 (GRCm39)	V165E	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,150 (GRCm39)	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,292,487 (GRCm39)	G211C	probably damaging	Het
Phox2a	A	G	7: 101,471,312 (GRCm39)	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,841,983 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,125,156 (GRCm39)	M360K	probably benign	Het
Rbm6	C	T	9: 107,729,856 (GRCm39)	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc45a1	T	C	4: 150,722,727 (GRCm39)	T386A	probably damaging	Het
Smad2	A	G	18: 76,421,124 (GRCm39)	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,800,110 (GRCm39)	G2188D	probably benign	Het
Sugt1	G	A	14: 79,840,341 (GRCm39)		probably null	Het
Tctn3	T	C	19: 40,595,685 (GRCm39)	S367G	probably benign	Het
Tead1	G	T	7: 112,460,752 (GRCm39)	D219Y	probably damaging	Het
Tenm2	G	T	11: 35,938,028 (GRCm39)	Y1548*	probably null	Het
Tenm3	T	A	8: 48,682,233 (GRCm39)	I2466F	possibly damaging	Het
Tent4b	C	A	8: 88,926,651 (GRCm39)	H20Q	possibly damaging	Het
Tgm2	G	A	2: 157,971,358 (GRCm39)	P294S	probably damaging	Het
Tns2	T	C	15: 102,019,888 (GRCm39)	S585P	probably damaging	Het
Ttc41	A	G	10: 86,566,806 (GRCm39)	K491E	probably benign	Het
Ttn	G	A	2: 76,621,895 (GRCm39)	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,461,183 (GRCm39)	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,083,820 (GRCm39)	M65V	probably benign	Het
Zcchc14	T	C	8: 122,345,433 (GRCm39)		probably benign	Het

Other mutations in Ercc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Ercc3	APN	18	32,397,598 (GRCm39)	splice site	probably benign
IGL01108:Ercc3	APN	18	32,397,638 (GRCm39)	missense	probably damaging	0.99
IGL01131:Ercc3	APN	18	32,402,942 (GRCm39)	makesense	probably null
IGL01541:Ercc3	APN	18	32,381,372 (GRCm39)	missense	possibly damaging	0.87
IGL01959:Ercc3	APN	18	32,390,411 (GRCm39)	missense	probably damaging	1.00
IGL02862:Ercc3	APN	18	32,376,255 (GRCm39)	critical splice donor site	probably null
IGL03107:Ercc3	APN	18	32,381,360 (GRCm39)	missense	possibly damaging	0.95
IGL03334:Ercc3	APN	18	32,373,890 (GRCm39)	critical splice donor site	probably null
PIT4651001:Ercc3	UTSW	18	32,373,365 (GRCm39)	unclassified	probably benign
R0545:Ercc3	UTSW	18	32,378,955 (GRCm39)	missense	probably damaging	1.00
R0561:Ercc3	UTSW	18	32,378,592 (GRCm39)	missense	possibly damaging	0.85
R1159:Ercc3	UTSW	18	32,397,611 (GRCm39)	missense	possibly damaging	0.86
R1496:Ercc3	UTSW	18	32,394,350 (GRCm39)	splice site	probably benign
R1733:Ercc3	UTSW	18	32,400,218 (GRCm39)	missense	possibly damaging	0.60
R1943:Ercc3	UTSW	18	32,379,663 (GRCm39)	missense	probably damaging	1.00
R2013:Ercc3	UTSW	18	32,381,482 (GRCm39)	missense	probably benign
R2015:Ercc3	UTSW	18	32,381,482 (GRCm39)	missense	probably benign
R2303:Ercc3	UTSW	18	32,378,600 (GRCm39)	missense	probably benign	0.08
R4393:Ercc3	UTSW	18	32,398,674 (GRCm39)	missense	probably benign	0.00
R4600:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4601:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4602:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4603:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4796:Ercc3	UTSW	18	32,381,363 (GRCm39)	missense	probably damaging	1.00
R4957:Ercc3	UTSW	18	32,376,170 (GRCm39)	missense	probably damaging	1.00
R5265:Ercc3	UTSW	18	32,387,296 (GRCm39)	missense	probably damaging	0.99
R5342:Ercc3	UTSW	18	32,378,648 (GRCm39)	missense	probably benign	0.01
R5455:Ercc3	UTSW	18	32,400,262 (GRCm39)	missense	possibly damaging	0.89
R5639:Ercc3	UTSW	18	32,398,767 (GRCm39)	missense	probably damaging	0.99
R5702:Ercc3	UTSW	18	32,387,206 (GRCm39)	missense	probably damaging	0.99
R6026:Ercc3	UTSW	18	32,378,974 (GRCm39)	critical splice donor site	probably null
R6053:Ercc3	UTSW	18	32,379,807 (GRCm39)	missense	probably damaging	1.00
R6650:Ercc3	UTSW	18	32,394,389 (GRCm39)	missense	probably damaging	1.00
R7150:Ercc3	UTSW	18	32,390,325 (GRCm39)	missense	probably damaging	1.00
R7783:Ercc3	UTSW	18	32,381,296 (GRCm39)	missense	probably damaging	1.00
R8331:Ercc3	UTSW	18	32,373,871 (GRCm39)	missense	probably damaging	0.97
R8905:Ercc3	UTSW	18	32,398,771 (GRCm39)	missense	possibly damaging	0.94
Z1177:Ercc3	UTSW	18	32,387,214 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACGGTGTATCTCCCGTATATC -3'
(R):5'- TAAGGCCTCACACTGACTGG -3'

Sequencing Primer
(F):5'- GCAAGACACTGGGTTCAATC -3'
(R):5'- CTGGTTTTCAGCAGTCAGTCAATAG -3'

Posted On

2016-07-06