Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Ercc3'

345749

Institutional Source

Beutler Lab

Gene Symbol

Ercc3

Ensembl Gene

ENSMUSG00000024382

Gene Name

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

Synonyms

XPB

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32373357-32403206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32378624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 202 (A202T)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

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

AlphaFold

P49135

Predicted Effect

probably benign
Transcript: ENSMUST00000025241
AA Change: A202T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: A202T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,189 (GRCm39)	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankmy1	A	T	1: 92,816,372 (GRCm39)	N247K	probably benign	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
Atp1a4	A	C	1: 172,067,332 (GRCm39)	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727 (GRCm39)	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,405,906 (GRCm39)	V215A	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clec14a	C	T	12: 58,314,767 (GRCm39)	R285H	probably benign	Het
Ctnna1	T	G	18: 35,312,880 (GRCm39)	I244R	possibly damaging	Het
Dcxr	T	A	11: 120,617,130 (GRCm39)	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Faf1	A	G	4: 109,584,625 (GRCm39)	D67G	probably benign	Het
Fancm	G	A	12: 65,171,718 (GRCm39)	R1786H	probably benign	Het
Fnbp1	A	G	2: 30,926,552 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,209,546 (GRCm39)	E164G	probably benign	Het
Gm4922	A	T	10: 18,660,007 (GRCm39)	Y238*	probably null	Het
Gm8257	A	G	14: 44,893,774 (GRCm39)	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,755,739 (GRCm39)	F525S	probably damaging	Het
Hjv	T	G	3: 96,434,869 (GRCm39)	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,210,984 (GRCm39)		probably null	Het
Ighv1-23	T	A	12: 114,728,179 (GRCm39)	Q81L	probably benign	Het
Inpp4b	T	C	8: 82,696,164 (GRCm39)	V366A	probably damaging	Het
Jak1	G	T	4: 101,036,791 (GRCm39)	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,748,140 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mettl17	T	C	14: 52,126,246 (GRCm39)	V218A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nfat5	C	T	8: 108,093,855 (GRCm39)	Q699*	probably null	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e174	C	A	9: 20,012,540 (GRCm39)	H162N	probably benign	Het
Osbpl7	C	A	11: 96,947,095 (GRCm39)	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,430,046 (GRCm39)	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,705,866 (GRCm39)	L478Q	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Phactr1	A	T	13: 43,248,441 (GRCm39)	E463D	probably benign	Het
Phaf1	C	A	8: 105,973,520 (GRCm39)	N282K	possibly damaging	Het
Samd9l	A	T	6: 3,373,935 (GRCm39)	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgk2	G	A	2: 162,836,674 (GRCm39)		probably null	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Spaca6	C	T	17: 18,051,387 (GRCm39)	A21V	probably damaging	Het
Sphkap	G	T	1: 83,256,782 (GRCm39)	Y322*	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Syt9	A	T	7: 107,035,594 (GRCm39)	K204*	probably null	Het
Taf3	A	G	2: 9,957,468 (GRCm39)	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,637,285 (GRCm39)		probably null	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubac1	A	T	2: 25,888,989 (GRCm39)	I402N	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
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
R5253:Ercc3	UTSW	18	32,402,917 (GRCm39)	missense	probably damaging	0.97
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'- CAGCCTGTTAGAGCTTTGCC -3'
(R):5'- GTAGGAATCCAGACTCTGCAC -3'

Sequencing Primer
(F):5'- CGAGGCTGTAATTTTCAGATCACC -3'
(R):5'- CCTTGTTACCAACCATGAACTG -3'

Posted On

2015-09-25