Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:Ercc4'

316360

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

040854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R4072 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13109684-13150617 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13130685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 499 (V499I)

Ref Sequence

ENSEMBL: ENSMUSP00000114639 (fasta)

Gene Model

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

AlphaFold

Q9QZD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023206
AA Change: V589I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: V589I

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 damaging
Transcript: ENSMUST00000129049
AA Change: V499I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156393

Meta Mutation Damage Score

0.2922

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,945,361		probably null	Het
Abcc5	A	G	16: 20,333,695	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Acss3	C	T	10: 107,123,585		probably benign	Het
Ankar	G	T	1: 72,688,592	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atp4a	T	C	7: 30,715,332	I182T	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Baz1a	A	G	12: 54,941,560	I268T	probably benign	Het
Baz2b	A	T	2: 59,912,573		probably null	Het
C2cd4d	C	A	3: 94,363,878	C150*	probably null	Het
Crtac1	T	C	19: 42,304,707	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,106,492	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,298	R2284*	probably null	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Galntl5	A	T	5: 25,198,480	K150*	probably null	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm19965	A	G	1: 116,821,071	T161A	probably benign	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hydin	G	A	8: 110,505,256	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Obscn	A	G	11: 58,997,183	I7652T	unknown	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr52	T	A	2: 86,181,647	M155L	probably benign	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde7a	G	A	3: 19,256,853	R70C	probably damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pms2	T	C	5: 143,929,001	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Rp1l1	A	T	14: 64,028,132	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,338,907	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,946,680	D374G	probably damaging	Het
Slco2a1	T	A	9: 103,068,002	I192N	probably damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396	T45A	probably damaging	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Vwc2	T	A	11: 11,116,446	L178Q	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,998,064	T617I	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
R0212:Ercc4	UTSW	16	13123332	critical splice acceptor site	probably null
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
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'- AGACAGACCAGTAGTAGCCC -3'
(R):5'- TCCATCTGGAACGTTCTATCG -3'

Sequencing Primer
(F):5'- GGTAGAGATTAAGCGTGAATCATTTG -3'
(R):5'- GTTCTATCGTTCACCAGAAAGCAG -3'

Posted On

2015-05-15