Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01294:Ercc2'

73009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ercc2

Ensembl Gene

ENSMUSG00000030400

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 2

Synonyms

RCO015, Ercc-2, Mhdarco15, XPD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01294

Quality Score

Status

Chromosome

Chromosomal Location

19115942-19129619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19124342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 445 (I445V)

Ref Sequence

ENSEMBL: ENSMUSP00000104100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047170] [ENSMUST00000062831] [ENSMUST00000108457] [ENSMUST00000108458] [ENSMUST00000108459] [ENSMUST00000108460] [ENSMUST00000108461]

AlphaFold

O08811

Predicted Effect

probably benign
Transcript: ENSMUST00000047170

SMART Domains

Protein: ENSMUSP00000038091
Gene: ENSMUSG00000040714

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.1e-56	PFAM
Pfam:TPR_10	206	247	1.7e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062831
AA Change: I466V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: I466V

Domain	Start	End	E-Value	Type
DEXDc	8	280	1.62e-144	SMART
Blast:DEXDc2	340	369	3e-10	BLAST
Blast:DEXDc	412	467	9e-27	BLAST
HELICc	542	686	1.32e-76	SMART
low complexity region	733	751	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102360

Predicted Effect

probably benign
Transcript: ENSMUST00000108457

SMART Domains

Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.7e-57	PFAM
Pfam:TPR_10	206	247	3.2e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108458

SMART Domains

Protein: ENSMUSP00000104098
Gene: ENSMUSG00000040714

Domain	Start	End	E-Value	Type
Pfam:Rab5-bind	79	248	1.1e-56	PFAM
Pfam:TPR_10	206	247	1.7e-6	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108459

SMART Domains

Protein: ENSMUSP00000104099
Gene: ENSMUSG00000040714

Domain	Start	End	E-Value	Type
coiled coil region	88	150	N/A	INTRINSIC
low complexity region	157	173	N/A	INTRINSIC
low complexity region	181	202	N/A	INTRINSIC
Pfam:TPR_10	206	247	5.6e-7	PFAM
TPR	249	282	1.66e-1	SMART
TPR	291	324	1.89e-5	SMART
TPR	333	366	1.66e-1	SMART
TPR	375	408	2.55e-2	SMART
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108460
AA Change: I445V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: I445V

Domain	Start	End	E-Value	Type
DEXDc	8	259	1.7e-120	SMART
Blast:DEXDc2	319	348	3e-10	BLAST
Blast:DEXDc	391	446	8e-27	BLAST
HELICc	521	665	1.32e-76	SMART
low complexity region	712	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108461
AA Change: I214V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400
AA Change: I214V

Domain	Start	End	E-Value	Type
Pfam:DUF1227	16	161	4.5e-60	PFAM
Blast:HELICc2	193	262	1e-40	BLAST
HELICc	290	434	1.32e-76	SMART
low complexity region	481	499	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000129249
AA Change: I389V

SMART Domains

Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: I389V

Domain	Start	End	E-Value	Type
DEXDc	10	204	1.14e-71	SMART
Blast:DEXDc2	264	293	2e-10	BLAST
Blast:DEXDc	336	391	5e-27	BLAST
HELICc	466	610	1.32e-76	SMART
low complexity region	657	675	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154419

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,291 (GRCm39)	S101T	probably benign	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arglu1	G	T	8: 8,733,739 (GRCm39)		probably benign	Het
Cacna2d2	T	G	9: 107,391,280 (GRCm39)	Y436D	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cpne8	G	A	15: 90,385,648 (GRCm39)	S460L	probably damaging	Het
Crat	G	A	2: 30,295,199 (GRCm39)	A436V	probably damaging	Het
Dmd	T	C	X: 83,475,604 (GRCm39)		probably null	Het
Emilin2	G	T	17: 71,581,589 (GRCm39)	A379E	probably benign	Het
Evc2	T	C	5: 37,504,854 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,392,711 (GRCm39)	K1100*	probably null	Het
Gm4353	T	A	7: 115,683,077 (GRCm39)	D168V	possibly damaging	Het
Hsf4	G	T	8: 106,002,289 (GRCm39)	*417L	probably null	Het
Kmt2a	A	G	9: 44,731,594 (GRCm39)		probably benign	Het
Macroh2a1	A	T	13: 56,222,113 (GRCm39)	V346E	probably damaging	Het
Mpzl1	A	G	1: 165,421,177 (GRCm39)	S261P	probably damaging	Het
Mre11a	T	C	9: 14,742,211 (GRCm39)	S621P	probably damaging	Het
Muc6	T	C	7: 141,232,926 (GRCm39)	Y934C	probably damaging	Het
Naip5	A	G	13: 100,353,588 (GRCm39)	S1224P	probably damaging	Het
Nwd1	A	T	8: 73,438,373 (GRCm39)	N1474Y	probably damaging	Het
Or2ag20	T	C	7: 106,464,970 (GRCm39)	L261S	probably damaging	Het
Ptbp2	A	G	3: 119,541,461 (GRCm39)	V192A	probably damaging	Het
Rfx2	T	C	17: 57,090,657 (GRCm39)	Y421C	probably damaging	Het
Sfmbt2	T	A	2: 10,595,232 (GRCm39)		probably benign	Het
Slc4a10	A	C	2: 62,083,653 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,987,506 (GRCm39)	M734V	probably benign	Het
Tap1	T	C	17: 34,413,019 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,067,114 (GRCm39)		probably benign	Het
Uba6	T	A	5: 86,297,907 (GRCm39)	I256L	possibly damaging	Het
Wnt3	A	T	11: 103,699,140 (GRCm39)	H82L	possibly damaging	Het

Other mutations in Ercc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Ercc2	APN	7	19,124,346 (GRCm39)	missense	probably damaging	1.00
IGL01810:Ercc2	APN	7	19,127,374 (GRCm39)	missense	probably damaging	1.00
IGL02485:Ercc2	APN	7	19,127,970 (GRCm39)	missense	possibly damaging	0.83
IGL02891:Ercc2	APN	7	19,127,211 (GRCm39)	missense	probably damaging	1.00
IGL03010:Ercc2	APN	7	19,125,491 (GRCm39)	missense	possibly damaging	0.89
R0304:Ercc2	UTSW	7	19,120,633 (GRCm39)	missense	possibly damaging	0.75
R0512:Ercc2	UTSW	7	19,127,812 (GRCm39)	missense	probably damaging	0.99
R1467:Ercc2	UTSW	7	19,119,811 (GRCm39)	missense	probably benign	0.05
R1467:Ercc2	UTSW	7	19,119,811 (GRCm39)	missense	probably benign	0.05
R1600:Ercc2	UTSW	7	19,119,866 (GRCm39)	missense	probably benign	0.00
R1636:Ercc2	UTSW	7	19,121,049 (GRCm39)	missense	possibly damaging	0.94
R2156:Ercc2	UTSW	7	19,120,717 (GRCm39)	missense	possibly damaging	0.95
R2446:Ercc2	UTSW	7	19,120,869 (GRCm39)	missense	probably damaging	0.97
R4458:Ercc2	UTSW	7	19,127,771 (GRCm39)	missense	probably damaging	1.00
R4869:Ercc2	UTSW	7	19,120,732 (GRCm39)	missense	probably damaging	1.00
R5861:Ercc2	UTSW	7	19,128,066 (GRCm39)	missense	possibly damaging	0.91
R6960:Ercc2	UTSW	7	19,127,615 (GRCm39)	missense	probably damaging	0.98
R7301:Ercc2	UTSW	7	19,128,060 (GRCm39)	missense	probably benign	0.09
R7354:Ercc2	UTSW	7	19,127,579 (GRCm39)	missense	possibly damaging	0.91
R8485:Ercc2	UTSW	7	19,122,165 (GRCm39)	missense	possibly damaging	0.89
R9521:Ercc2	UTSW	7	19,125,899 (GRCm39)	missense	probably damaging	0.99
R9574:Ercc2	UTSW	7	19,124,060 (GRCm39)	missense	probably benign	0.02
Z1176:Ercc2	UTSW	7	19,119,593 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07