Mutagenetix > Incidental Mutation

Incidental Mutation 'R7062:Ercc4'

548369

Institutional Source

Beutler Lab

Gene Symbol

Ercc4

Ensembl Gene

ENSMUSG00000022545

Gene Name

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

Synonyms

Xpf

MMRRC Submission

045158-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R7062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12927548-12968481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12950811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 635 (I635K)

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: I635K

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

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: I635K

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

Meta Mutation Damage Score

0.4504

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,544,872 (GRCm39)	D1370V	probably damaging	Het
Ackr1	A	T	1: 173,159,682 (GRCm39)	I279N	possibly damaging	Het
Adcy10	A	G	1: 165,366,091 (GRCm39)	H536R	probably benign	Het
Adgrb3	T	C	1: 25,865,166 (GRCm39)	T226A	possibly damaging	Het
Apol10b	T	A	15: 77,469,473 (GRCm39)	M235L	probably benign	Het
Arhgap44	T	C	11: 64,902,758 (GRCm39)	T570A	probably benign	Het
Astn1	A	G	1: 158,516,081 (GRCm39)		probably null	Het
Camsap3	A	G	8: 3,657,834 (GRCm39)		probably benign	Het
Ccdc73	C	T	2: 104,782,223 (GRCm39)	A193V	probably damaging	Het
Ccl20	G	A	1: 83,095,535 (GRCm39)	C32Y	probably damaging	Het
Cdk11b	A	G	4: 155,711,268 (GRCm39)	E16G	probably damaging	Het
Celsr2	T	A	3: 108,309,826 (GRCm39)	N1591I	possibly damaging	Het
Col5a2	T	C	1: 45,456,785 (GRCm39)	E306G	probably benign	Het
Cpa1	C	T	6: 30,640,676 (GRCm39)	A106V	probably benign	Het
Ctdspl	G	A	9: 118,866,538 (GRCm39)	R199H	probably damaging	Het
Cyfip2	G	A	11: 46,151,659 (GRCm39)	P547S	probably damaging	Het
Cyp2c37	A	T	19: 39,983,990 (GRCm39)		probably null	Het
Dnajc16	A	G	4: 141,494,001 (GRCm39)	F549L	probably damaging	Het
Dnm3	T	A	1: 161,962,060 (GRCm39)	K50*	probably null	Het
Eci1	C	T	17: 24,645,714 (GRCm39)		probably benign	Het
Eif2b4	C	T	5: 31,350,175 (GRCm39)	C49Y	probably benign	Het
Emc3	A	T	6: 113,499,757 (GRCm39)	I56N	probably damaging	Het
Enthd1	A	G	15: 80,336,745 (GRCm39)	L563P	probably damaging	Het
Espl1	A	C	15: 102,207,331 (GRCm39)	N265T	probably benign	Het
Fads2	T	C	19: 10,042,962 (GRCm39)		probably null	Het
Fam186a	G	A	15: 99,831,521 (GRCm39)		probably benign	Het
Fastkd1	A	T	2: 69,534,666 (GRCm39)	I368K	possibly damaging	Het
Fat1	G	A	8: 45,403,253 (GRCm39)	M1I	probably null	Het
Foxj1	T	C	11: 116,222,819 (GRCm39)	E328G	probably benign	Het
Gfod2	T	C	8: 106,449,508 (GRCm39)		probably benign	Het
Gm6525	C	T	3: 84,082,198 (GRCm39)	R40C	probably benign	Het
Gna12	G	A	5: 140,771,240 (GRCm39)	T144I	probably benign	Het
Ighv9-3	T	C	12: 114,104,712 (GRCm39)	M11V	probably benign	Het
Kcnj14	T	C	7: 45,467,314 (GRCm39)	Y344C	probably damaging	Het
Lrrc63	A	T	14: 75,323,737 (GRCm39)	S496T	probably benign	Het
Ltn1	T	C	16: 87,224,491 (GRCm39)	T78A	probably damaging	Het
Matr3	T	A	18: 35,712,072 (GRCm39)		probably null	Het
Mcpt4	A	G	14: 56,298,125 (GRCm39)	M142T	probably benign	Het
Mroh7	A	G	4: 106,541,177 (GRCm39)	F1154S	probably damaging	Het
Mrpl1	G	T	5: 96,361,650 (GRCm39)	L12F	probably benign	Het
Myo3b	G	A	2: 70,047,501 (GRCm39)	V308I	probably benign	Het
Nfasc	A	G	1: 132,529,707 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,167,807 (GRCm39)	M995L	probably benign	Het
Nvl	A	G	1: 180,939,899 (GRCm39)	I617T	probably benign	Het
Oas1h	C	A	5: 120,999,528 (GRCm39)		probably benign	Het
Oasl2	T	A	5: 115,049,152 (GRCm39)	Y197*	probably null	Het
Or4k1	A	G	14: 50,377,907 (GRCm39)	L63P	probably damaging	Het
Or52ab7	T	C	7: 102,978,293 (GRCm39)	V200A	probably benign	Het
Or5an1c	T	C	19: 12,218,089 (GRCm39)	N312S	probably benign	Het
Or5l13	T	C	2: 87,780,568 (GRCm39)	E3G	probably benign	Het
Or5p70	C	T	7: 107,995,037 (GRCm39)	R237*	probably null	Het
Or8g35	A	T	9: 39,381,353 (GRCm39)	I223N	probably benign	Het
Orc6	T	C	8: 86,029,537 (GRCm39)	V27A	probably damaging	Het
Parp4	A	T	14: 56,852,216 (GRCm39)	R799S	possibly damaging	Het
Pcdhga1	C	A	18: 37,958,130 (GRCm39)	S826R	probably damaging	Het
Phldb1	T	C	9: 44,607,432 (GRCm39)	R1258G	probably damaging	Het
Ppfia1	T	C	7: 144,106,210 (GRCm39)	S21G	probably benign	Het
Ppp1r18	C	A	17: 36,179,103 (GRCm39)	T326K	probably damaging	Het
Psg26	A	G	7: 18,216,521 (GRCm39)	L106P	probably damaging	Het
Rabgap1l	A	T	1: 160,054,220 (GRCm39)	D265E	probably benign	Het
Rasgrp4	T	C	7: 28,849,619 (GRCm39)	L554P	possibly damaging	Het
Rnf17	G	T	14: 56,703,111 (GRCm39)	V621L	probably benign	Het
Sart3	T	C	5: 113,883,663 (GRCm39)	K783R	possibly damaging	Het
Slc23a2	T	A	2: 131,933,189 (GRCm39)	I90F	probably damaging	Het
Slc5a2	A	T	7: 127,869,212 (GRCm39)	M331L	probably damaging	Het
Slc5a7	C	G	17: 54,600,029 (GRCm39)	G128A	probably damaging	Het
Smcr8	A	T	11: 60,671,180 (GRCm39)	Q776L	probably damaging	Het
Smpd4	T	A	16: 17,458,835 (GRCm39)	D519E	probably damaging	Het
Smurf1	A	T	5: 144,830,356 (GRCm39)		probably null	Het
Spata18	T	A	5: 73,816,636 (GRCm39)	N125K	probably benign	Het
Spice1	T	A	16: 44,178,259 (GRCm39)	M94K	probably damaging	Het
Stard4	T	C	18: 33,338,587 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,140,442 (GRCm39)	D49G	probably benign	Het
Tbce	T	C	13: 14,194,380 (GRCm39)	D93G	possibly damaging	Het
Tbx21	T	A	11: 96,989,719 (GRCm39)	D491V	probably damaging	Het
Tmbim4	G	T	10: 120,044,731 (GRCm39)		probably benign	Het
Tmem209	C	T	6: 30,502,016 (GRCm39)	R62H	probably damaging	Het
Tmem237	A	T	1: 59,158,771 (GRCm39)		probably null	Het
Tmprss9	T	C	10: 80,730,883 (GRCm39)	I803T	probably benign	Het
Trip4	C	T	9: 65,792,292 (GRCm39)	A7T	probably benign	Het
Unc13a	T	C	8: 72,115,881 (GRCm39)	D107G	probably benign	Het
Uso1	C	A	5: 92,340,599 (GRCm39)	Q672K	possibly damaging	Het
Washc2	T	A	6: 116,196,949 (GRCm39)	N239K	possibly damaging	Het
Zfp661	A	G	2: 127,419,040 (GRCm39)	C367R	probably damaging	Het
Znrf3	T	A	11: 5,231,550 (GRCm39)	E558D	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
IGL00805:Ercc4	APN	16	12,939,868 (GRCm39)	missense	possibly damaging	0.77
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGAGGCTTGCTCTTCCTC -3'
(R):5'- TTCTACTCATTAAACCCACAGTGAG -3'

Sequencing Primer
(F):5'- GTCTGTGACTTGAGCCTCCAG -3'
(R):5'- GTGAGCAACTGCACGGG -3'

Posted On

2019-05-13