Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00805:Ercc4'

10525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ercc4

Ensembl Gene

ENSMUSG00000022545

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 4

Synonyms

Xpf

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL00805

Quality Score

Status

Chromosome

Chromosomal Location

12927548-12968481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12939868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 43 (V43L)

Ref Sequence

ENSEMBL: ENSMUSP00000114639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023206] [ENSMUST00000129049] [ENSMUST00000141024]

AlphaFold

Q9QZD4

Predicted Effect

probably benign
Transcript: ENSMUST00000023206
AA Change: V133L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: V133L

Domain	Start	End	E-Value	Type
Blast:DEXDc	8	187	1e-5	BLAST
ERCC4	684	764	1.11e-26	SMART
low complexity region	789	802	N/A	INTRINSIC
PDB:2AQ0\|B	835	917	6e-37	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129049
AA Change: V43L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138527

Predicted Effect

probably benign
Transcript: ENSMUST00000141024
AA Change: V113L

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,422 (GRCm39)	V93E	probably damaging	Het
Ampd3	A	G	7: 110,409,072 (GRCm39)	I704V	possibly damaging	Het
Apcdd1	T	A	18: 63,066,936 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,772,521 (GRCm39)	Y3737C	probably benign	Het
Jam2	T	C	16: 84,612,054 (GRCm39)		probably benign	Het
Mrpl3	T	A	9: 104,941,305 (GRCm39)	V204E	probably damaging	Het
Ptpn13	T	A	5: 103,702,595 (GRCm39)	M1187K	probably benign	Het
Sis	C	A	3: 72,841,532 (GRCm39)	R761I	probably benign	Het
Sos1	A	G	17: 80,705,953 (GRCm39)	V1206A	possibly damaging	Het
Stxbp3	A	T	3: 108,723,667 (GRCm39)	D189E	probably benign	Het
T	T	A	17: 8,655,997 (GRCm39)	D86E	probably benign	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	probably damaging	Het

Other mutations in Ercc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Ercc4	APN	16	12,943,233 (GRCm39)	missense	possibly damaging	0.91
IGL01348:Ercc4	APN	16	12,950,798 (GRCm39)	missense	probably damaging	1.00
IGL02406:Ercc4	APN	16	12,941,400 (GRCm39)	missense	probably damaging	1.00
IGL03248:Ercc4	APN	16	12,945,457 (GRCm39)	missense	probably damaging	1.00
Rapscallion	UTSW	16	12,944,331 (GRCm39)	missense	probably benign
Rascal	UTSW	16	12,950,811 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Ercc4	UTSW	16	12,962,311 (GRCm39)	missense	probably benign	0.29
R0212:Ercc4	UTSW	16	12,941,196 (GRCm39)	critical splice acceptor site	probably null
R0505:Ercc4	UTSW	16	12,944,331 (GRCm39)	missense	probably benign
R0962:Ercc4	UTSW	16	12,948,010 (GRCm39)	missense	probably damaging	0.99
R1078:Ercc4	UTSW	16	12,948,061 (GRCm39)	missense	probably benign	0.00
R1356:Ercc4	UTSW	16	12,943,146 (GRCm39)	missense	probably damaging	0.99
R1420:Ercc4	UTSW	16	12,948,073 (GRCm39)	missense	probably benign	0.01
R1554:Ercc4	UTSW	16	12,965,486 (GRCm39)	missense	probably damaging	1.00
R1899:Ercc4	UTSW	16	12,965,651 (GRCm39)	missense	probably damaging	1.00
R2128:Ercc4	UTSW	16	12,965,798 (GRCm39)	missense	probably damaging	0.99
R2214:Ercc4	UTSW	16	12,927,888 (GRCm39)	missense	probably damaging	1.00
R3757:Ercc4	UTSW	16	12,962,360 (GRCm39)	missense	probably benign	0.28
R4072:Ercc4	UTSW	16	12,948,549 (GRCm39)	missense	probably damaging	1.00
R4073:Ercc4	UTSW	16	12,948,549 (GRCm39)	missense	probably damaging	1.00
R4075:Ercc4	UTSW	16	12,948,549 (GRCm39)	missense	probably damaging	1.00
R4076:Ercc4	UTSW	16	12,948,549 (GRCm39)	missense	probably damaging	1.00
R4646:Ercc4	UTSW	16	12,965,438 (GRCm39)	missense	probably damaging	1.00
R4731:Ercc4	UTSW	16	12,965,471 (GRCm39)	missense	probably damaging	1.00
R4756:Ercc4	UTSW	16	12,941,287 (GRCm39)	missense	probably damaging	1.00
R4767:Ercc4	UTSW	16	12,939,959 (GRCm39)	missense	probably damaging	1.00
R5011:Ercc4	UTSW	16	12,941,445 (GRCm39)	intron	probably benign
R5013:Ercc4	UTSW	16	12,941,445 (GRCm39)	intron	probably benign
R5301:Ercc4	UTSW	16	12,948,550 (GRCm39)	missense	probably damaging	1.00
R5308:Ercc4	UTSW	16	12,948,028 (GRCm39)	missense	probably damaging	1.00
R5684:Ercc4	UTSW	16	12,948,465 (GRCm39)	missense	probably benign	0.35
R6083:Ercc4	UTSW	16	12,927,903 (GRCm39)	nonsense	probably null
R6092:Ercc4	UTSW	16	12,943,125 (GRCm39)	missense	probably benign	0.04
R6815:Ercc4	UTSW	16	12,941,299 (GRCm39)	missense	probably damaging	0.99
R6953:Ercc4	UTSW	16	12,948,550 (GRCm39)	missense	probably damaging	1.00
R7062:Ercc4	UTSW	16	12,950,811 (GRCm39)	missense	probably damaging	1.00
R7199:Ercc4	UTSW	16	12,965,657 (GRCm39)	missense	probably damaging	1.00
R7317:Ercc4	UTSW	16	12,939,977 (GRCm39)	missense	probably benign	0.12
R7858:Ercc4	UTSW	16	12,943,169 (GRCm39)	missense	probably damaging	0.98
R7948:Ercc4	UTSW	16	12,948,049 (GRCm39)	missense	probably benign	0.00
R8245:Ercc4	UTSW	16	12,948,001 (GRCm39)	missense	probably benign	0.00
R8408:Ercc4	UTSW	16	12,948,001 (GRCm39)	missense	probably benign	0.00
R8409:Ercc4	UTSW	16	12,948,001 (GRCm39)	missense	probably benign	0.00
R9173:Ercc4	UTSW	16	12,939,973 (GRCm39)	missense	possibly damaging	0.82
R9445:Ercc4	UTSW	16	12,945,474 (GRCm39)	missense	probably benign
R9696:Ercc4	UTSW	16	12,950,810 (GRCm39)	missense	probably damaging	1.00
RF007:Ercc4	UTSW	16	12,941,371 (GRCm39)	missense	possibly damaging	0.67

Posted On

2012-12-06