Mutagenetix > Incidental Mutation

Incidental Mutation 'R4796:Ercc3'

369102

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 #

R4796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32240300-32270151 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32248310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 393 (F393S)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

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

AlphaFold

P49135

Predicted Effect

probably damaging
Transcript: ENSMUST00000025241
AA Change: F393S

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

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: F393S

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	A	G	2: 148,850,738	F48S	probably damaging	Het
9930021J03Rik	G	A	19: 29,753,618	H665Y	probably benign	Het
Adgrv1	C	T	13: 81,155,231	W132*	probably null	Het
Atp8b3	A	G	10: 80,524,354	V961A	probably damaging	Het
Bglap	A	C	3: 88,384,405	I4S	unknown	Het
Bmp1	T	C	14: 70,492,073		probably null	Het
Btaf1	T	C	19: 36,956,428	L152P	possibly damaging	Het
Cacna1b	T	A	2: 24,637,487	T1621S	possibly damaging	Het
Capn3	A	T	2: 120,502,998	N621I	probably damaging	Het
Ccdc59	T	C	10: 105,841,568	S23P	probably benign	Het
Cd22	A	T	7: 30,872,956		probably null	Het
Cdh20	A	G	1: 104,941,264	D160G	probably damaging	Het
Cep112	T	C	11: 108,486,992		probably null	Het
Clock	T	C	5: 76,265,916	K44R	probably damaging	Het
Coq10b	A	G	1: 55,071,798	T242A	probably damaging	Het
Ctnnd1	G	T	2: 84,619,926	R317S	probably damaging	Het
Dlg5	G	A	14: 24,144,383	H1674Y	probably damaging	Het
Drc3	C	A	11: 60,363,528	N75K	probably damaging	Het
Efna4	T	C	3: 89,335,248	E113G	probably damaging	Het
Egr3	C	A	14: 70,077,575	A44D	probably benign	Het
Evi2	T	A	11: 79,515,447		probably benign	Het
Fam78b	T	C	1: 167,078,647	V125A	probably benign	Het
Fars2	A	T	13: 36,537,426	E448V	probably damaging	Het
Farsb	A	T	1: 78,425,196	*590R	probably null	Het
Fat3	A	G	9: 15,999,732	M1658T	probably benign	Het
Fhod3	G	T	18: 24,985,301	V232F	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Fzd3	A	G	14: 65,235,158	V387A	possibly damaging	Het
Gm14085	T	A	2: 122,514,459	I182N	probably damaging	Het
Gm1527	A	G	3: 28,920,663	I542V	possibly damaging	Het
Gm6583	A	G	5: 112,355,299	S180P	possibly damaging	Het
Gm7964	A	G	7: 83,755,901		probably null	Het
Hbs1l	G	T	10: 21,342,506	G301C	probably damaging	Het
Hipk4	A	G	7: 27,528,570	H247R	probably benign	Het
Hmcn1	A	G	1: 150,753,611	V965A	probably benign	Het
Hoxa5	C	T	6: 52,203,963	A130T	probably benign	Het
Igf2r	C	T	17: 12,684,126	V2346I	possibly damaging	Het
Igsf8	T	C	1: 172,316,322	V14A	probably benign	Het
Impg1	G	A	9: 80,394,095	P183L	probably damaging	Het
Isl1	T	C	13: 116,305,430	N89S	probably benign	Het
Itga1	C	A	13: 115,035,385	W61C	probably damaging	Het
Itga5	T	C	15: 103,347,760	R922G	probably benign	Het
Itgb5	T	C	16: 33,885,021	V227A	possibly damaging	Het
Jph4	G	T	14: 55,109,708	P461T	probably damaging	Het
Kcnab1	T	A	3: 65,304,165		probably null	Het
Klrc1	T	A	6: 129,677,762		probably null	Het
Lonrf2	A	T	1: 38,816,038	L92Q	probably benign	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Mapk13	T	C	17: 28,775,554	Y140H	probably damaging	Het
Mgat4d	A	G	8: 83,358,120	E164G	probably damaging	Het
Mkl1	C	T	15: 81,017,033	S419N	probably damaging	Het
Mthfs	A	T	9: 89,240,025	H188L	probably benign	Het
Muc5b	T	A	7: 141,864,246	M3643K	possibly damaging	Het
Mylk3	T	C	8: 85,350,385	Y474C	probably damaging	Het
Myo5b	A	G	18: 74,744,630	T1567A	possibly damaging	Het
Ncaph2	T	G	15: 89,370,807	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967	R247G	possibly damaging	Het
Nedd9	T	C	13: 41,317,900	K208E	probably benign	Het
Nxph2	C	T	2: 23,399,858	T74M	probably benign	Het
Ogdh	T	A	11: 6,340,570	M385K	probably benign	Het
Olfr1239	T	C	2: 89,417,891	H174R	probably damaging	Het
Olfr2	C	T	7: 107,001,335	G175D	probably damaging	Het
Olfr402	A	T	11: 74,155,591	I146F	probably benign	Het
Olfr713	A	T	7: 107,036,914	Y253F	probably benign	Het
Olfr830	T	C	9: 18,876,179	V284A	probably damaging	Het
Olfr921	T	A	9: 38,775,374	F40I	probably benign	Het
Pcsk2	A	C	2: 143,813,425	I510L	probably benign	Het
Pdgfra	A	G	5: 75,189,311	N952S	probably benign	Het
Pex26	T	C	6: 121,193,557	F287S	probably damaging	Het
Pick1	G	C	15: 79,255,610		probably benign	Het
Plxnb1	G	T	9: 109,114,595	V1917L	probably damaging	Het
Polk	T	C	13: 96,489,256	T347A	probably benign	Het
Ppp1r10	T	G	17: 35,924,087	I61R	probably damaging	Het
Prex1	A	T	2: 166,592,291	L503Q	probably damaging	Het
Ptp4a1	A	C	1: 30,943,938	I133R	probably damaging	Het
Rassf10	G	T	7: 112,954,528	R112L	probably damaging	Het
Ripor3	T	A	2: 167,981,340	I884F	probably damaging	Het
Rnft2	A	G	5: 118,201,246	Y369H	probably damaging	Het
Rtp3	A	T	9: 110,986,454	V281E	probably benign	Het
Runx1t1	T	A	4: 13,837,767	N51K	probably damaging	Het
Selp	A	G	1: 164,144,906	T705A	probably benign	Het
Sgca	A	T	11: 94,970,727		probably null	Het
Slc22a3	T	C	17: 12,423,788	E514G	probably damaging	Het
Slc2a1	G	A	4: 119,132,445	R61Q	probably damaging	Het
Smarcal1	G	A	1: 72,597,440	V425I	probably benign	Het
Soga1	A	G	2: 157,020,252	S1586P	probably benign	Het
Ssx2ip	T	C	3: 146,418,359	V43A	probably benign	Het
Synpo	A	G	18: 60,604,314	S187P	probably damaging	Het
Thnsl1	T	A	2: 21,212,045	C203*	probably null	Het
Tldc1	A	T	8: 119,768,354	S222T	probably benign	Het
Ttyh3	A	T	5: 140,634,786	I232N	probably damaging	Het
Upk1b	T	C	16: 38,787,242	H41R	probably benign	Het
Vmn2r76	T	C	7: 86,230,444	D216G	possibly damaging	Het
Zan	A	T	5: 137,380,850	C5329*	probably null	Het
Zbtb40	C	T	4: 136,998,642	M535I	probably benign	Het
Zfp383	A	C	7: 29,914,838	T173P	possibly damaging	Het
Zfp7	T	A	15: 76,891,346	C529*	probably null	Het

Other mutations in Ercc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Ercc3	APN	18	32264545	splice site	probably benign
IGL01108:Ercc3	APN	18	32264585	missense	probably damaging	0.99
IGL01131:Ercc3	APN	18	32269889	makesense	probably null
IGL01541:Ercc3	APN	18	32248319	missense	possibly damaging	0.87
IGL01959:Ercc3	APN	18	32257358	missense	probably damaging	1.00
IGL02862:Ercc3	APN	18	32243202	critical splice donor site	probably null
IGL03107:Ercc3	APN	18	32248307	missense	possibly damaging	0.95
IGL03334:Ercc3	APN	18	32240837	critical splice donor site	probably null
PIT4651001:Ercc3	UTSW	18	32240312	unclassified	probably benign
R0545:Ercc3	UTSW	18	32245902	missense	probably damaging	1.00
R0561:Ercc3	UTSW	18	32245539	missense	possibly damaging	0.85
R1159:Ercc3	UTSW	18	32264558	missense	possibly damaging	0.86
R1496:Ercc3	UTSW	18	32261297	splice site	probably benign
R1733:Ercc3	UTSW	18	32267165	missense	possibly damaging	0.60
R1943:Ercc3	UTSW	18	32246610	missense	probably damaging	1.00
R2013:Ercc3	UTSW	18	32248429	missense	probably benign
R2015:Ercc3	UTSW	18	32248429	missense	probably benign
R2303:Ercc3	UTSW	18	32245547	missense	probably benign	0.08
R4393:Ercc3	UTSW	18	32265621	missense	probably benign	0.00
R4600:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4601:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4602:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4603:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4957:Ercc3	UTSW	18	32243117	missense	probably damaging	1.00
R5253:Ercc3	UTSW	18	32269864	missense	probably damaging	0.97
R5265:Ercc3	UTSW	18	32254243	missense	probably damaging	0.99
R5342:Ercc3	UTSW	18	32245595	missense	probably benign	0.01
R5455:Ercc3	UTSW	18	32267209	missense	possibly damaging	0.89
R5639:Ercc3	UTSW	18	32265714	missense	probably damaging	0.99
R5702:Ercc3	UTSW	18	32254153	missense	probably damaging	0.99
R6026:Ercc3	UTSW	18	32245921	critical splice donor site	probably null
R6053:Ercc3	UTSW	18	32246754	missense	probably damaging	1.00
R6650:Ercc3	UTSW	18	32261336	missense	probably damaging	1.00
R7150:Ercc3	UTSW	18	32257272	missense	probably damaging	1.00
R7783:Ercc3	UTSW	18	32248243	missense	probably damaging	1.00
R8331:Ercc3	UTSW	18	32240818	missense	probably damaging	0.97
R8905:Ercc3	UTSW	18	32265718	missense	possibly damaging	0.94
Z1177:Ercc3	UTSW	18	32254161	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAGTTGAGCCATTCTGTAC -3'
(R):5'- CCTTACCTGGAATGGTGTGC -3'

Sequencing Primer
(F):5'- GAGCCATTCTGTACATCCCTAAG -3'
(R):5'- TTGAGCCACTCCATGACT -3'

Posted On

2016-02-04