Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Ercc3'

381683

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

042554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32240300-32270151 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32243117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 130 (G130W)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

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

AlphaFold

P49135

Predicted Effect

probably damaging
Transcript: ENSMUST00000025241
AA Change: G130W

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

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: G130W

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: ENSMUST00000142213

Meta Mutation Damage Score

0.9421

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110 (GRCm38)		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119 (GRCm38)		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120 (GRCm38)		probably benign	Het
6820408C15Rik	T	A	2: 152,444,093 (GRCm38)	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,532,361 (GRCm38)	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,606,810 (GRCm38)	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,558,291 (GRCm38)	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,364,868 (GRCm38)		probably benign	Het
Cd74	A	G	18: 60,809,037 (GRCm38)	N113D	probably benign	Het
Cdc25b	T	C	2: 131,193,605 (GRCm38)	V341A	possibly damaging	Het
Clptm1l	T	C	13: 73,612,428 (GRCm38)	I310T	probably damaging	Het
Clptm1l	T	A	13: 73,611,196 (GRCm38)	I245N	possibly damaging	Het
Creb5	A	T	6: 53,693,922 (GRCm38)		probably null	Het
Crebbp	T	C	16: 4,117,367 (GRCm38)	Q460R	probably benign	Het
Dnah17	A	T	11: 118,074,298 (GRCm38)	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,658,126 (GRCm38)	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,431,923 (GRCm38)	H215L	probably damaging	Het
Enkd1	A	G	8: 105,704,489 (GRCm38)	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892 (GRCm38)	A407V	probably damaging	Het
Fbxl8	A	G	8: 105,268,195 (GRCm38)	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099 (GRCm38)	N339K	probably damaging	Het
Frrs1	G	A	3: 116,885,248 (GRCm38)	D240N	probably benign	Het
Gemin2	A	G	12: 59,017,168 (GRCm38)	S105G	probably benign	Het
Glra1	T	A	11: 55,527,398 (GRCm38)	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,710,521 (GRCm38)	P354S	probably damaging	Het
Gpr15	G	T	16: 58,718,174 (GRCm38)	A184E	probably damaging	Het
Grm7	G	A	6: 111,358,863 (GRCm38)	G745E	probably damaging	Het
H2-T10	T	A	17: 36,117,416 (GRCm38)		probably benign	Het
Hdac5	C	A	11: 102,205,256 (GRCm38)		probably benign	Het
Ift22	G	A	5: 136,908,216 (GRCm38)		probably benign	Het
Ighg3	T	C	12: 113,361,130 (GRCm38)	E34G	unknown	Het
Itga11	A	T	9: 62,767,648 (GRCm38)	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,872 (GRCm38)	V282A	possibly damaging	Het
Maml2	A	G	9: 13,620,276 (GRCm38)	K262R	probably damaging	Het
Mme	T	A	3: 63,343,489 (GRCm38)		probably benign	Het
Mnat1	A	G	12: 73,123,878 (GRCm38)	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,135 (GRCm38)	T34S	possibly damaging	Het
Ncaph	T	C	2: 127,121,257 (GRCm38)	D352G	possibly damaging	Het
Or2t43	A	G	11: 58,566,518 (GRCm38)	Y276H	probably damaging	Het
Or4f17-ps1	C	A	2: 111,528,224 (GRCm38)	N321K	probably benign	Het
Or5m9b	T	A	2: 86,075,510 (GRCm38)	Y257N	probably damaging	Het
Or9g8	T	C	2: 85,777,115 (GRCm38)	F177S	probably damaging	Het
Pcdhb13	T	A	18: 37,444,784 (GRCm38)	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,300,499 (GRCm38)	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,775,145 (GRCm38)	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,195 (GRCm38)	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,851,272 (GRCm38)	T772I	probably benign	Het
Ryr2	T	C	13: 11,785,080 (GRCm38)	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,525,634 (GRCm38)	E634G	probably benign	Het
Scart1	T	C	7: 140,228,522 (GRCm38)	V782A	probably damaging	Het
Skic3	T	G	13: 76,185,113 (GRCm38)		probably null	Het
Slc39a14	A	T	14: 70,315,811 (GRCm38)	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,544,831 (GRCm38)	T176S	probably benign	Het
Srsf10	T	C	4: 135,856,230 (GRCm38)	S2P	probably damaging	Het
Tcam1	T	A	11: 106,282,879 (GRCm38)	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,931,432 (GRCm38)		probably null	Het
Tdrd3	T	A	14: 87,505,787 (GRCm38)	H390Q	probably benign	Het
Tlk2	T	C	11: 105,253,359 (GRCm38)		probably null	Het
Tnc	G	C	4: 63,976,556 (GRCm38)	P1531R	probably damaging	Het
Tnfrsf1b	T	G	4: 145,246,758 (GRCm38)	Q15P	possibly damaging	Het
Tnfrsf1b	C	A	4: 145,246,757 (GRCm38)	Q15H	probably damaging	Het
Tssk4	A	T	14: 55,651,809 (GRCm38)	E264V	probably damaging	Het
Ugt3a2	G	A	15: 9,365,188 (GRCm38)	V296I	probably benign	Het
Usp5	C	G	6: 124,822,630 (GRCm38)	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,799,263 (GRCm38)	E541A	probably benign	Het
Ybx1	A	T	4: 119,278,938 (GRCm38)		probably benign	Het
Zfp39	T	A	11: 58,891,231 (GRCm38)	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,626,943 (GRCm38)	K32*	probably null	Het
Zpbp2	T	A	11: 98,551,324 (GRCm38)		probably null	Het

Other mutations in Ercc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Ercc3	APN	18	32,264,545 (GRCm38)	splice site	probably benign
IGL01108:Ercc3	APN	18	32,264,585 (GRCm38)	missense	probably damaging	0.99
IGL01131:Ercc3	APN	18	32,269,889 (GRCm38)	makesense	probably null
IGL01541:Ercc3	APN	18	32,248,319 (GRCm38)	missense	possibly damaging	0.87
IGL01959:Ercc3	APN	18	32,257,358 (GRCm38)	missense	probably damaging	1.00
IGL02862:Ercc3	APN	18	32,243,202 (GRCm38)	critical splice donor site	probably null
IGL03107:Ercc3	APN	18	32,248,307 (GRCm38)	missense	possibly damaging	0.95
IGL03334:Ercc3	APN	18	32,240,837 (GRCm38)	critical splice donor site	probably null
PIT4651001:Ercc3	UTSW	18	32,240,312 (GRCm38)	unclassified	probably benign
R0545:Ercc3	UTSW	18	32,245,902 (GRCm38)	missense	probably damaging	1.00
R0561:Ercc3	UTSW	18	32,245,539 (GRCm38)	missense	possibly damaging	0.85
R1159:Ercc3	UTSW	18	32,264,558 (GRCm38)	missense	possibly damaging	0.86
R1496:Ercc3	UTSW	18	32,261,297 (GRCm38)	splice site	probably benign
R1733:Ercc3	UTSW	18	32,267,165 (GRCm38)	missense	possibly damaging	0.60
R1943:Ercc3	UTSW	18	32,246,610 (GRCm38)	missense	probably damaging	1.00
R2013:Ercc3	UTSW	18	32,248,429 (GRCm38)	missense	probably benign
R2015:Ercc3	UTSW	18	32,248,429 (GRCm38)	missense	probably benign
R2303:Ercc3	UTSW	18	32,245,547 (GRCm38)	missense	probably benign	0.08
R4393:Ercc3	UTSW	18	32,265,621 (GRCm38)	missense	probably benign	0.00
R4600:Ercc3	UTSW	18	32,245,571 (GRCm38)	missense	probably benign	0.00
R4601:Ercc3	UTSW	18	32,245,571 (GRCm38)	missense	probably benign	0.00
R4602:Ercc3	UTSW	18	32,245,571 (GRCm38)	missense	probably benign	0.00
R4603:Ercc3	UTSW	18	32,245,571 (GRCm38)	missense	probably benign	0.00
R4796:Ercc3	UTSW	18	32,248,310 (GRCm38)	missense	probably damaging	1.00
R5253:Ercc3	UTSW	18	32,269,864 (GRCm38)	missense	probably damaging	0.97
R5265:Ercc3	UTSW	18	32,254,243 (GRCm38)	missense	probably damaging	0.99
R5342:Ercc3	UTSW	18	32,245,595 (GRCm38)	missense	probably benign	0.01
R5455:Ercc3	UTSW	18	32,267,209 (GRCm38)	missense	possibly damaging	0.89
R5639:Ercc3	UTSW	18	32,265,714 (GRCm38)	missense	probably damaging	0.99
R5702:Ercc3	UTSW	18	32,254,153 (GRCm38)	missense	probably damaging	0.99
R6026:Ercc3	UTSW	18	32,245,921 (GRCm38)	critical splice donor site	probably null
R6053:Ercc3	UTSW	18	32,246,754 (GRCm38)	missense	probably damaging	1.00
R6650:Ercc3	UTSW	18	32,261,336 (GRCm38)	missense	probably damaging	1.00
R7150:Ercc3	UTSW	18	32,257,272 (GRCm38)	missense	probably damaging	1.00
R7783:Ercc3	UTSW	18	32,248,243 (GRCm38)	missense	probably damaging	1.00
R8331:Ercc3	UTSW	18	32,240,818 (GRCm38)	missense	probably damaging	0.97
R8905:Ercc3	UTSW	18	32,265,718 (GRCm38)	missense	possibly damaging	0.94
Z1177:Ercc3	UTSW	18	32,254,161 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCTCATTGATATTCTTGCC -3'
(R):5'- GTGGACCTGAACTTCTACTCCC -3'

Sequencing Primer
(F):5'- AGCTCATTGATATTCTTGCCTGTTG -3'
(R):5'- CTAGGCACGAAGCTATTTTGC -3'

Posted On

2016-04-27