Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02485:Ercc2'

295394

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

XPD, Ercc-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02485

Quality Score

Status

Chromosome

Chromosomal Location

19382010-19395694 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19394045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 433 (A433T)

Ref Sequence

ENSEMBL: ENSMUSP00000104101 (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

possibly damaging
Transcript: ENSMUST00000062831
AA Change: A685T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: A685T

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

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

possibly damaging
Transcript: ENSMUST00000108460
AA Change: A664T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: A664T

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

possibly damaging
Transcript: ENSMUST00000108461
AA Change: A433T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400
AA Change: A433T

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

noncoding transcript
Transcript: ENSMUST00000125246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128167

Predicted Effect

unknown
Transcript: ENSMUST00000129249
AA Change: A608T

SMART Domains

Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: A608T

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: ENSMUST00000129291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180691

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,228,325 (GRCm38)	V94E	probably damaging	Het
Agl	A	G	3: 116,779,080 (GRCm38)	S841P	probably benign	Het
BC003331	A	G	1: 150,363,489 (GRCm38)		probably null	Het
Cd59b	A	C	2: 104,081,104 (GRCm38)		probably benign	Het
Dopey2	T	C	16: 93,770,822 (GRCm38)	L1379P	probably damaging	Het
Gm17175	T	C	14: 51,569,611 (GRCm38)		probably benign	Het
Gm5150	A	T	3: 15,990,752 (GRCm38)	I103N	probably damaging	Het
Igf1	A	G	10: 87,864,746 (GRCm38)	M11V	probably benign	Het
Incenp	T	C	19: 9,893,368 (GRCm38)	N299S	unknown	Het
Maneal	A	T	4: 124,856,770 (GRCm38)	S398T	probably damaging	Het
Map1a	A	G	2: 121,299,288 (GRCm38)	N195S	probably damaging	Het
Mars2	T	C	1: 55,237,591 (GRCm38)	F118L	possibly damaging	Het
Mast4	A	G	13: 102,735,496 (GRCm38)	S2263P	probably benign	Het
Mrgprb1	C	A	7: 48,447,717 (GRCm38)	R149L	possibly damaging	Het
Myo1d	T	C	11: 80,666,581 (GRCm38)	D511G	probably damaging	Het
Ntan1	T	C	16: 13,834,676 (GRCm38)		probably benign	Het
Nxf2	A	G	X: 134,956,467 (GRCm38)	F158L	probably damaging	Het
Olfr1513	T	A	14: 52,350,044 (GRCm38)	M1L	possibly damaging	Het
Trpm1	C	T	7: 64,269,114 (GRCm38)	A734V	possibly damaging	Het
Upf2	G	A	2: 6,027,291 (GRCm38)	E883K	unknown	Het
Ush1c	T	C	7: 46,229,250 (GRCm38)	I83V	probably damaging	Het
Vmn2r60	C	A	7: 42,195,466 (GRCm38)	T751N	possibly damaging	Het
Zfp146	A	G	7: 30,162,590 (GRCm38)	I9T	probably benign	Het
Zfp592	G	A	7: 81,037,970 (GRCm38)		probably benign	Het
Zswim8	C	T	14: 20,711,887 (GRCm38)	L243F	probably damaging	Het

Other mutations in Ercc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Ercc2	APN	7	19,390,417 (GRCm38)	missense	probably benign	0.03
IGL01767:Ercc2	APN	7	19,390,421 (GRCm38)	missense	probably damaging	1.00
IGL01810:Ercc2	APN	7	19,393,449 (GRCm38)	missense	probably damaging	1.00
IGL02891:Ercc2	APN	7	19,393,286 (GRCm38)	missense	probably damaging	1.00
IGL03010:Ercc2	APN	7	19,391,566 (GRCm38)	missense	possibly damaging	0.89
R0304:Ercc2	UTSW	7	19,386,708 (GRCm38)	missense	possibly damaging	0.75
R0512:Ercc2	UTSW	7	19,393,887 (GRCm38)	missense	probably damaging	0.99
R1467:Ercc2	UTSW	7	19,385,886 (GRCm38)	missense	probably benign	0.05
R1467:Ercc2	UTSW	7	19,385,886 (GRCm38)	missense	probably benign	0.05
R1600:Ercc2	UTSW	7	19,385,941 (GRCm38)	missense	probably benign	0.00
R1636:Ercc2	UTSW	7	19,387,124 (GRCm38)	missense	possibly damaging	0.94
R2156:Ercc2	UTSW	7	19,386,792 (GRCm38)	missense	possibly damaging	0.95
R2446:Ercc2	UTSW	7	19,386,944 (GRCm38)	missense	probably damaging	0.97
R4458:Ercc2	UTSW	7	19,393,846 (GRCm38)	missense	probably damaging	1.00
R4869:Ercc2	UTSW	7	19,386,807 (GRCm38)	missense	probably damaging	1.00
R5861:Ercc2	UTSW	7	19,394,141 (GRCm38)	missense	possibly damaging	0.91
R6960:Ercc2	UTSW	7	19,393,690 (GRCm38)	missense	probably damaging	0.98
R7301:Ercc2	UTSW	7	19,394,135 (GRCm38)	missense	probably benign	0.09
R7354:Ercc2	UTSW	7	19,393,654 (GRCm38)	missense	possibly damaging	0.91
R8485:Ercc2	UTSW	7	19,388,240 (GRCm38)	missense	possibly damaging	0.89
R9521:Ercc2	UTSW	7	19,391,974 (GRCm38)	missense	probably damaging	0.99
R9574:Ercc2	UTSW	7	19,390,135 (GRCm38)	missense	probably benign	0.02
Z1176:Ercc2	UTSW	7	19,385,668 (GRCm38)	missense	probably benign	0.01

Posted On

2015-04-16