Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03334:Ercc3'

416984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ercc3

Ensembl Gene

ENSMUSG00000024382

Gene Name

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

Synonyms

XPB

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03334

Quality Score

Status

Chromosome

Chromosomal Location

32240300-32270151 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 32240837 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025241] [ENSMUST00000096575]

AlphaFold

P49135

Predicted Effect

probably null
Transcript: ENSMUST00000025241

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382

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

probably benign
Transcript: ENSMUST00000096575

SMART Domains

Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383

Domain	Start	End	E-Value	Type
PB1	43	122	6.96e-20	SMART
low complexity region	203	219	N/A	INTRINSIC
low complexity region	300	315	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
S_TKc	356	616	2.86e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142213

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,947,475	F762L	probably benign	Het
A430078G23Rik	A	T	8: 3,388,023	I286F	probably benign	Het
Angpt1	T	A	15: 42,496,412	E208V	possibly damaging	Het
Arhgef5	T	C	6: 43,274,000	S562P	possibly damaging	Het
Asb6	T	C	2: 30,824,484	T205A	probably benign	Het
B4galnt4	G	A	7: 141,067,441		probably null	Het
Clca4a	A	T	3: 144,953,866	M743K	probably benign	Het
Col14a1	T	C	15: 55,448,821		probably benign	Het
Col27a1	A	T	4: 63,314,722	Y359F	probably damaging	Het
Dhcr7	T	A	7: 143,840,497	V125D	possibly damaging	Het
Fnbp1l	A	G	3: 122,557,949	V315A	probably benign	Het
Gm17174	T	A	14: 51,591,963	R48*	probably null	Het
Golga4	C	T	9: 118,537,233		probably benign	Het
Grin1	C	T	2: 25,298,393		probably null	Het
Ifi203	T	A	1: 173,937,835	K58*	probably null	Het
Ighv2-9-1	A	G	12: 113,769,923	S93P	probably benign	Het
Il27ra	A	G	8: 84,031,122	V594A	probably benign	Het
Krr1	T	G	10: 111,980,054	S275R	probably benign	Het
Lars	T	C	18: 42,221,506	D792G	probably benign	Het
Myo1f	G	A	17: 33,598,194	R737H	probably damaging	Het
Nebl	T	A	2: 17,413,711	H292L	probably damaging	Het
Nell1	C	A	7: 50,062,611		probably null	Het
Nktr	T	C	9: 121,748,176	F412L	probably benign	Het
Nlrp3	T	A	11: 59,549,016	I473N	probably damaging	Het
Olfr338	T	C	2: 36,377,051	Y92H	possibly damaging	Het
Phf3	A	G	1: 30,805,729	V1383A	probably damaging	Het
Prss48	T	C	3: 85,997,318	E191G	probably damaging	Het
Psg25	T	A	7: 18,529,774	L41F	probably benign	Het
Sema3b	A	G	9: 107,604,077	L78P	probably damaging	Het
Spen	G	T	4: 141,469,969	N3496K	probably damaging	Het
Tbk1	A	T	10: 121,584,199	H28Q	possibly damaging	Het
Trpv3	T	A	11: 73,281,665		probably benign	Het
Vmn1r218	T	C	13: 23,136,618	L45P	probably damaging	Het
Vmn2r35	T	A	7: 7,786,494	Y748F	probably damaging	Het
Vps18	C	T	2: 119,297,482	R929W	probably damaging	Het
Xpnpep1	T	C	19: 53,010,146	K224E	probably damaging	Het
Zbed5	T	A	5: 129,902,355	F382I	possibly damaging	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
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
R4796:Ercc3	UTSW	18	32248310	missense	probably damaging	1.00
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

Posted On

2016-08-02