Mutagenetix > Incidental Mutation

Incidental Mutation 'R0212:Ercc4'

33575

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

038463-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0212 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

13109684-13150617 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 13123332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023206 (fasta)

Gene Model

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

AlphaFold

Q9QZD4

Predicted Effect

probably null
Transcript: ENSMUST00000023206

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545

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 null
Transcript: ENSMUST00000023206

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545

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 null
Transcript: ENSMUST00000023206

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545

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

probably benign
Transcript: ENSMUST00000129049

Predicted Effect

probably benign
Transcript: ENSMUST00000129049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138527

Predicted Effect

probably benign
Transcript: ENSMUST00000141024

Predicted Effect

probably benign
Transcript: ENSMUST00000141024

Predicted Effect

probably benign
Transcript: ENSMUST00000141024

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,848,910		probably null	Het
Adat1	T	A	8: 111,987,208	D113V	possibly damaging	Het
Arhgap40	T	G	2: 158,550,575	L656V	probably damaging	Het
Atg2a	T	C	19: 6,246,554	I330T	probably damaging	Het
Cad	A	G	5: 31,078,110	D2137G	probably damaging	Het
Cd8a	G	A	6: 71,373,649	E33K	probably benign	Het
Cemip	C	A	7: 83,973,190	G594C	probably damaging	Het
Chd6	T	A	2: 161,052,847	D31V	probably damaging	Het
Cmpk1	A	T	4: 114,965,019	M111K	possibly damaging	Het
Crispld2	T	G	8: 120,010,631	H40Q	probably benign	Het
Depdc5	A	G	5: 32,912,242	T441A	probably benign	Het
Dpm1	T	C	2: 168,227,494	N5S	probably benign	Het
Fam83f	A	T	15: 80,690,578	M229L	probably benign	Het
Fgd5	A	T	6: 91,988,208	D474V	probably damaging	Het
Fgf21	G	T	7: 45,614,102	P184Q	probably benign	Het
Fry	A	T	5: 150,496,397	D1008V	probably damaging	Het
Gjd2	T	C	2: 114,011,472	T175A	probably benign	Het
Gphn	C	T	12: 78,637,552	T577I	probably damaging	Het
Ifi207	A	T	1: 173,736,398	N18K	possibly damaging	Het
Ifne	T	C	4: 88,879,735	R149G	possibly damaging	Het
Ift80	A	T	3: 68,940,173	L330H	probably benign	Het
Inpp4b	A	T	8: 81,770,917	H122L	probably benign	Het
Inpp5e	T	C	2: 26,408,340		probably null	Het
Ism1	T	C	2: 139,740,257	L163S	probably benign	Het
Itga11	T	A	9: 62,745,969	V375E	probably benign	Het
Itpr3	T	G	17: 27,089,319	F306V	probably damaging	Het
Kif19a	A	T	11: 114,784,910	I403F	possibly damaging	Het
Klf12	A	T	14: 100,022,862	S144T	probably benign	Het
Lyst	C	T	13: 13,635,985	H747Y	possibly damaging	Het
Mccc2	A	G	13: 99,954,655	Y445H	probably benign	Het
Mei1	G	A	15: 82,095,931		probably null	Het
Metap2	T	A	10: 93,861,380	K479N	probably damaging	Het
Mief2	A	T	11: 60,730,667	D62V	probably damaging	Het
Mtrf1	A	G	14: 79,419,279	D407G	probably benign	Het
Myo3a	A	G	2: 22,291,848	R210G	probably damaging	Het
Nkx2-2	T	C	2: 147,184,170	H216R	probably damaging	Het
Nos1	A	G	5: 117,910,212	E694G	possibly damaging	Het
Nptn	A	T	9: 58,627,881	Y103F	probably benign	Het
Nrxn1	A	G	17: 90,362,758		probably benign	Het
Numbl	T	C	7: 27,280,759	S389P	probably damaging	Het
Olfr1155	A	G	2: 87,943,091	F179S	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr152	C	T	2: 87,783,482	P314L	unknown	Het
Olfr357	A	T	2: 36,997,323	D171V	probably damaging	Het
Olfr357	T	A	2: 36,997,632	V274E	possibly damaging	Het
Olfr44	C	A	9: 39,485,088	S55I	probably damaging	Het
Olfr975	A	G	9: 39,949,940	V277A	probably benign	Het
Osm	T	G	11: 4,238,465	S31A	probably benign	Het
Paqr4	T	C	17: 23,738,320	M70V	probably benign	Het
Pikfyve	T	A	1: 65,262,905	Y1607N	probably benign	Het
Plec	A	C	15: 76,191,305	Y402*	probably null	Het
Polq	A	G	16: 37,066,854	K1631E	probably damaging	Het
Pou6f1	A	G	15: 100,580,815	V129A	possibly damaging	Het
Prm2	A	G	16: 10,791,599		probably benign	Het
Prtn3	A	G	10: 79,881,137	Y112C	probably damaging	Het
Qrfp	T	A	2: 31,808,785	H45L	probably benign	Het
Rps6ka5	A	T	12: 100,553,169		probably null	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Slc10a1	A	C	12: 80,967,712	L78R	possibly damaging	Het
Slc26a5	A	T	5: 21,823,549	Y340*	probably null	Het
Sptbn2	T	C	19: 4,746,942		probably null	Het
St3gal6	C	A	16: 58,473,453	A238S	probably damaging	Het
St3gal6	G	T	16: 58,473,455	A237E	probably damaging	Het
Tmem131l	A	T	3: 83,913,268	S1226T	probably benign	Het
Togaram2	C	T	17: 71,724,983	L866F	probably damaging	Het
Txndc17	A	G	11: 72,207,732	T37A	probably benign	Het
Vmn2r105	C	A	17: 20,208,565	V750F	possibly damaging	Het
Vmn2r54	T	A	7: 12,632,497	Y170F	probably benign	Het
Wrnip1	T	C	13: 32,821,906	V577A	probably benign	Het
Zc3h7b	A	G	15: 81,776,328	T226A	probably benign	Het
Zfp948	T	C	17: 21,588,160	I538T	probably benign	Het
Zzef1	A	G	11: 72,873,910	E1401G	possibly damaging	Het

Other mutations in Ercc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Ercc4	APN	16	13125369	missense	possibly damaging	0.91
IGL00805:Ercc4	APN	16	13122004	missense	possibly damaging	0.77
IGL01348:Ercc4	APN	16	13132934	missense	probably damaging	1.00
IGL02406:Ercc4	APN	16	13123536	missense	probably damaging	1.00
IGL03248:Ercc4	APN	16	13127593	missense	probably damaging	1.00
Rapscallion	UTSW	16	13126467	missense	probably benign
Rascal	UTSW	16	13132947	missense	probably damaging	1.00
PIT4812001:Ercc4	UTSW	16	13144447	missense	probably benign	0.29
R0505:Ercc4	UTSW	16	13126467	missense	probably benign
R0962:Ercc4	UTSW	16	13130146	missense	probably damaging	0.99
R1078:Ercc4	UTSW	16	13130197	missense	probably benign	0.00
R1356:Ercc4	UTSW	16	13125282	missense	probably damaging	0.99
R1420:Ercc4	UTSW	16	13130209	missense	probably benign	0.01
R1554:Ercc4	UTSW	16	13147622	missense	probably damaging	1.00
R1899:Ercc4	UTSW	16	13147787	missense	probably damaging	1.00
R2128:Ercc4	UTSW	16	13147934	missense	probably damaging	0.99
R2214:Ercc4	UTSW	16	13110024	missense	probably damaging	1.00
R3757:Ercc4	UTSW	16	13144496	missense	probably benign	0.28
R4072:Ercc4	UTSW	16	13130685	missense	probably damaging	1.00
R4073:Ercc4	UTSW	16	13130685	missense	probably damaging	1.00
R4075:Ercc4	UTSW	16	13130685	missense	probably damaging	1.00
R4076:Ercc4	UTSW	16	13130685	missense	probably damaging	1.00
R4646:Ercc4	UTSW	16	13147574	missense	probably damaging	1.00
R4731:Ercc4	UTSW	16	13147607	missense	probably damaging	1.00
R4756:Ercc4	UTSW	16	13123423	missense	probably damaging	1.00
R4767:Ercc4	UTSW	16	13122095	missense	probably damaging	1.00
R5011:Ercc4	UTSW	16	13123581	intron	probably benign
R5013:Ercc4	UTSW	16	13123581	intron	probably benign
R5301:Ercc4	UTSW	16	13130686	missense	probably damaging	1.00
R5308:Ercc4	UTSW	16	13130164	missense	probably damaging	1.00
R5684:Ercc4	UTSW	16	13130601	missense	probably benign	0.35
R6083:Ercc4	UTSW	16	13110039	nonsense	probably null
R6092:Ercc4	UTSW	16	13125261	missense	probably benign	0.04
R6815:Ercc4	UTSW	16	13123435	missense	probably damaging	0.99
R6953:Ercc4	UTSW	16	13130686	missense	probably damaging	1.00
R7062:Ercc4	UTSW	16	13132947	missense	probably damaging	1.00
R7199:Ercc4	UTSW	16	13147793	missense	probably damaging	1.00
R7317:Ercc4	UTSW	16	13122113	missense	probably benign	0.12
R7858:Ercc4	UTSW	16	13125305	missense	probably damaging	0.98
R7948:Ercc4	UTSW	16	13130185	missense	probably benign	0.00
R8245:Ercc4	UTSW	16	13130137	missense	probably benign	0.00
R8408:Ercc4	UTSW	16	13130137	missense	probably benign	0.00
R8409:Ercc4	UTSW	16	13130137	missense	probably benign	0.00
R9173:Ercc4	UTSW	16	13122109	missense	possibly damaging	0.82
R9445:Ercc4	UTSW	16	13127610	missense	probably benign
R9696:Ercc4	UTSW	16	13132946	missense	probably damaging	1.00
RF007:Ercc4	UTSW	16	13123507	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TGGCATGGGCACACCAAATGAG -3'
(R):5'- TTGTCGAATGGCTTCCCAAGAGCG -3'

Sequencing Primer
(F):5'- cacacCAAATGAGTGTCATGGG -3'
(R):5'- GAGCGTTTTCTAGTGACAAATCTTC -3'

Posted On

2013-05-09