Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01348:Ercc4'

75175

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 #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

12927548-12968481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12950798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 631 (F631L)

Ref Sequence

ENSEMBL: ENSMUSP00000023206 (fasta)

Gene Model

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

AlphaFold

Q9QZD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023206
AA Change: F631L

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

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: F631L

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

probably benign
Transcript: ENSMUST00000129049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156393

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,213 (GRCm39)	E140G	probably null	Het
Adgrl3	A	G	5: 81,874,570 (GRCm39)	T956A	probably damaging	Het
Aff4	G	A	11: 53,293,327 (GRCm39)	S772N	probably benign	Het
Ark2n	A	G	18: 77,761,613 (GRCm39)	I233T	possibly damaging	Het
Atad5	A	G	11: 79,986,390 (GRCm39)	I492M	probably benign	Het
Atf4	T	C	15: 80,140,728 (GRCm39)		probably benign	Het
Atrip	A	G	9: 108,898,363 (GRCm39)	S219P	probably damaging	Het
Axl	G	A	7: 25,462,734 (GRCm39)	R656W	probably damaging	Het
B3gnt3	T	A	8: 72,145,648 (GRCm39)	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,764,031 (GRCm39)	V915A	possibly damaging	Het
Cacna1s	T	C	1: 136,002,890 (GRCm39)	V329A	possibly damaging	Het
Celf3	C	A	3: 94,395,535 (GRCm39)	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,328,591 (GRCm39)	S292P	probably damaging	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Clec18a	G	A	8: 111,798,245 (GRCm39)	A423V	probably damaging	Het
Clnk	T	C	5: 38,870,550 (GRCm39)	D336G	probably damaging	Het
Csmd1	T	G	8: 15,960,596 (GRCm39)	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,805,817 (GRCm39)	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,160,679 (GRCm39)	I87T	probably damaging	Het
Ell3	A	G	2: 121,272,277 (GRCm39)	S66P	probably damaging	Het
Etl4	T	A	2: 20,811,784 (GRCm39)	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,543,606 (GRCm39)		probably benign	Het
Gm4553	C	T	7: 141,718,909 (GRCm39)	C173Y	unknown	Het
Gvin-ps5	T	A	7: 105,929,042 (GRCm39)	H285L	unknown	Het
Gykl1	A	T	18: 52,827,808 (GRCm39)	I339F	possibly damaging	Het
H60b	A	C	10: 22,162,078 (GRCm39)	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,427,986 (GRCm39)	T407I	probably damaging	Het
Itga11	A	G	9: 62,651,861 (GRCm39)	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,783 (GRCm39)	C430S	probably damaging	Het
Mfsd4a	T	C	1: 131,995,564 (GRCm39)	S1G	probably null	Het
Mybpc2	C	A	7: 44,165,352 (GRCm39)	M372I	probably benign	Het
Myh10	A	T	11: 68,702,629 (GRCm39)	T1768S	probably benign	Het
Myh8	A	G	11: 67,188,606 (GRCm39)	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,794,862 (GRCm39)	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,458,214 (GRCm39)	N2119T	probably damaging	Het
Nek11	C	T	9: 105,270,112 (GRCm39)	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,177,974 (GRCm39)	N479D	probably damaging	Het
Nup160	A	G	2: 90,530,772 (GRCm39)	T477A	probably benign	Het
Or10al5	A	T	17: 38,063,177 (GRCm39)	H144L	probably benign	Het
Or5h18	T	A	16: 58,848,157 (GRCm39)	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,581,066 (GRCm39)	V259A	probably benign	Het
Pmm1	A	G	15: 81,836,219 (GRCm39)	V131A	probably damaging	Het
Polr3a	A	T	14: 24,511,831 (GRCm39)	D908E	probably damaging	Het
Psg29	A	C	7: 16,944,598 (GRCm39)	R369S	probably benign	Het
Ptprq	T	A	10: 107,547,765 (GRCm39)	D211V	probably damaging	Het
Rdh9	A	G	10: 127,612,661 (GRCm39)	N103S	probably benign	Het
Riok3	T	C	18: 12,286,020 (GRCm39)		probably benign	Het
Serpinb1b	A	T	13: 33,275,398 (GRCm39)	Q174H	probably benign	Het
Sgip1	G	T	4: 102,772,353 (GRCm39)		probably null	Het
Sgpp1	A	T	12: 75,781,767 (GRCm39)	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,036,051 (GRCm39)	N641S	probably damaging	Het
Slc5a4b	T	C	10: 75,906,422 (GRCm39)	N399S	probably damaging	Het
Snx16	C	T	3: 10,484,219 (GRCm39)	A335T	probably damaging	Het
Sos2	C	T	12: 69,664,866 (GRCm39)	R355H	probably damaging	Het
Szt2	A	G	4: 118,250,821 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,387,902 (GRCm39)	D344E	probably benign	Het
Tek	C	A	4: 94,747,895 (GRCm39)	Q988K	probably damaging	Het
Tgm6	A	G	2: 129,979,299 (GRCm39)	D143G	probably damaging	Het
Tpx2	A	G	2: 152,735,511 (GRCm39)	K713R	probably damaging	Het
Trappc9	T	A	15: 72,808,858 (GRCm39)	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,855,015 (GRCm39)	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,129,078 (GRCm39)		probably null	Het
Usp37	T	C	1: 74,500,861 (GRCm39)	S567G	probably damaging	Het
Zfp773	A	T	7: 7,138,314 (GRCm39)	V107D	possibly 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
IGL00805:Ercc4	APN	16	12,939,868 (GRCm39)	missense	possibly damaging	0.77
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

2013-10-07