Mutagenetix > Incidental Mutation

Incidental Mutation 'R0894:Ercc6'

83702

Institutional Source

Beutler Lab

Gene Symbol

Ercc6

Ensembl Gene

ENSMUSG00000054051

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 6

Synonyms

CS group B correcting gene, C130058G22Rik, CSB

MMRRC Submission

039057-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.422) question?

Stock #

R0894 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32235478-32302947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32238985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 24 (N24K)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066807]

AlphaFold

F8VPZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000066807
AA Change: N24K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: N24K

Domain	Start	End	E-Value	Type
PDB:4CVO\|A	82	160	1e-36	PDB
low complexity region	286	299	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	460	469	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
DEXDc	499	699	8.34e-33	SMART
Blast:DEXDc	720	821	7e-56	BLAST
HELICc	865	948	1.41e-21	SMART
low complexity region	1364	1377	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228017

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

97% (102/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,726 (GRCm39)	S1044G	probably benign	Het
Aanat	A	G	11: 116,487,730 (GRCm39)	H143R	probably benign	Het
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcb1a	G	T	5: 8,724,856 (GRCm39)		probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Alk	T	C	17: 72,202,930 (GRCm39)	Y1135C	probably damaging	Het
Atad2b	C	T	12: 5,015,915 (GRCm39)	T547I	probably damaging	Het
Brd10	T	C	19: 29,697,974 (GRCm39)		probably benign	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Cfap95	T	C	19: 23,630,062 (GRCm39)	E10G	unknown	Het
Cfap96	A	G	8: 46,409,497 (GRCm39)	F274S	probably damaging	Het
Clec4f	T	A	6: 83,629,979 (GRCm39)	N193I	probably damaging	Het
Col4a4	A	T	1: 82,507,377 (GRCm39)		probably null	Het
Cplx4	T	G	18: 66,090,116 (GRCm39)	D101A	possibly damaging	Het
Cpne8	A	T	15: 90,533,474 (GRCm39)	D50E	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Ctdp1	A	G	18: 80,512,736 (GRCm39)	V9A	probably benign	Het
Ctnnd2	A	T	15: 30,332,301 (GRCm39)		probably benign	Het
Cyp7b1	C	T	3: 18,151,674 (GRCm39)	A180T	probably benign	Het
Dcun1d5	C	T	9: 7,203,379 (GRCm39)		probably benign	Het
Dgat1	G	T	15: 76,387,199 (GRCm39)	L363I	possibly damaging	Het
Dipk2b	T	A	X: 18,289,791 (GRCm39)	I224F	possibly damaging	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dnah6	T	C	6: 73,101,740 (GRCm39)	N1928S	probably benign	Het
Dnai4	T	C	4: 102,906,583 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,041,734 (GRCm39)		probably benign	Het
Ednra	T	G	8: 78,446,649 (GRCm39)		probably benign	Het
Efcab6	A	T	15: 83,802,493 (GRCm39)	C845S	probably benign	Het
Egln1	A	T	8: 125,642,435 (GRCm39)	C303S	probably damaging	Het
Eomes	T	C	9: 118,311,368 (GRCm39)		probably null	Het
Epha1	A	G	6: 42,340,756 (GRCm39)	V568A	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Fbxo46	T	C	7: 18,869,654 (GRCm39)	V91A	probably damaging	Het
Fryl	A	T	5: 73,198,675 (GRCm39)		probably benign	Het
Gab3	A	C	X: 74,077,024 (GRCm39)	D43E	probably damaging	Het
Gltpd2	T	A	11: 70,410,535 (GRCm39)		probably benign	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm7353	T	C	7: 3,160,570 (GRCm39)		noncoding transcript	Het
Grik4	T	C	9: 42,599,405 (GRCm39)		probably benign	Het
Gtpbp2	G	T	17: 46,476,895 (GRCm39)	A358S	possibly damaging	Het
Hyls1	C	T	9: 35,472,528 (GRCm39)	C296Y	probably damaging	Het
Igf2r	C	T	17: 12,910,988 (GRCm39)	M1943I	probably benign	Het
Iqca1l	T	C	5: 24,755,731 (GRCm39)		probably null	Het
Ireb2	T	A	9: 54,803,861 (GRCm39)	N517K	probably damaging	Het
Itga10	A	G	3: 96,560,976 (GRCm39)	S614G	possibly damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif17	T	C	4: 138,025,542 (GRCm39)	M948T	possibly damaging	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Llph	T	A	10: 120,064,086 (GRCm39)	C67*	probably null	Het
Lrrn3	T	C	12: 41,504,033 (GRCm39)	T95A	probably damaging	Het
Map3k12	C	A	15: 102,410,613 (GRCm39)	A455S	probably damaging	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Myo7b	A	G	18: 32,133,123 (GRCm39)	W409R	probably damaging	Het
Nbea	A	G	3: 55,916,761 (GRCm39)	M833T	possibly damaging	Het
Ncapg	A	G	5: 45,837,236 (GRCm39)	T436A	probably null	Het
Nkx1-2	C	A	7: 132,201,042 (GRCm39)	D72Y	probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2d3b	T	A	7: 106,514,317 (GRCm39)	I304K	probably benign	Het
Or6c217	T	A	10: 129,737,751 (GRCm39)	N276I	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcnx2	A	G	8: 126,613,665 (GRCm39)		probably benign	Het
Pcsk1	G	A	13: 75,246,096 (GRCm39)	G158D	probably damaging	Het
Phkb	A	T	8: 86,744,070 (GRCm39)	D573V	probably damaging	Het
Pik3r4	A	G	9: 105,544,970 (GRCm39)	K150E	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Ppp4r4	C	T	12: 103,566,754 (GRCm39)	A67V	probably damaging	Het
Prex2	A	G	1: 11,252,122 (GRCm39)	T1056A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Psd	T	C	19: 46,301,880 (GRCm39)	E903G	probably damaging	Het
Psg19	T	C	7: 18,527,987 (GRCm39)	E252G	probably benign	Het
Psg20	T	A	7: 18,414,969 (GRCm39)	K306*	probably null	Het
Pygl	T	G	12: 70,241,148 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,130,890 (GRCm39)	S724P	probably damaging	Het
Reck	C	A	4: 43,922,967 (GRCm39)	A414D	probably damaging	Het
Scn10a	C	A	9: 119,459,213 (GRCm39)	V1150L	probably damaging	Het
Shc2	A	T	10: 79,465,751 (GRCm39)	I187N	probably damaging	Het
Sipa1l3	T	A	7: 29,086,716 (GRCm39)	K625*	probably null	Het
Slc44a4	T	C	17: 35,147,466 (GRCm39)	L583P	possibly damaging	Het
Slc5a11	G	C	7: 122,857,643 (GRCm39)	R244P	possibly damaging	Het
Slfn8	T	A	11: 82,894,407 (GRCm39)	Q744L	probably benign	Het
Snx2	G	T	18: 53,309,488 (GRCm39)	V13L	probably benign	Het
Spmip5	A	T	19: 58,776,015 (GRCm39)	L138Q	probably damaging	Het
Spsb1	C	T	4: 149,990,872 (GRCm39)		probably null	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Svil	G	T	18: 5,097,494 (GRCm39)	R1659L	probably damaging	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tmem9	A	T	1: 135,961,926 (GRCm39)	T174S	possibly damaging	Het
Tnks2	T	C	19: 36,867,450 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ttf2	A	G	3: 100,876,865 (GRCm39)		probably benign	Het
Ubr7	C	A	12: 102,735,450 (GRCm39)	T303N	probably damaging	Het
Ushbp1	A	T	8: 71,842,868 (GRCm39)		probably null	Het
Vmn1r177	C	A	7: 23,565,475 (GRCm39)	V134F	probably benign	Het
Vmn2r12	A	G	5: 109,235,716 (GRCm39)		probably null	Het
Vmn2r53	T	G	7: 12,335,141 (GRCm39)	H173P	probably benign	Het
Yars1	A	T	4: 129,090,948 (GRCm39)	M119L	probably damaging	Het
Zcrb1	A	T	15: 93,295,038 (GRCm39)		probably benign	Het
Zfp267	T	A	3: 36,218,935 (GRCm39)	Y319*	probably null	Het
Zfp319	C	A	8: 96,056,250 (GRCm39)		probably benign	Het
Zfp783	C	G	6: 47,920,320 (GRCm39)		noncoding transcript	Het
Zfyve26	A	G	12: 79,320,372 (GRCm39)	I1024T	possibly damaging	Het

Other mutations in Ercc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ercc6	APN	14	32,290,029 (GRCm39)	missense	probably damaging	1.00
IGL00796:Ercc6	APN	14	32,291,959 (GRCm39)	missense	probably benign	0.01
IGL00916:Ercc6	APN	14	32,284,612 (GRCm39)	intron	probably benign
IGL01743:Ercc6	APN	14	32,274,561 (GRCm39)	missense	probably damaging	1.00
IGL01802:Ercc6	APN	14	32,284,531 (GRCm39)	missense	probably damaging	0.99
IGL01886:Ercc6	APN	14	32,291,537 (GRCm39)	missense	possibly damaging	0.90
IGL02100:Ercc6	APN	14	32,239,052 (GRCm39)	missense	probably benign	0.00
IGL02115:Ercc6	APN	14	32,298,950 (GRCm39)	missense	probably damaging	1.00
IGL02755:Ercc6	APN	14	32,297,705 (GRCm39)	splice site	probably benign
IGL02964:Ercc6	APN	14	32,292,060 (GRCm39)	missense	probably benign	0.00
IGL02998:Ercc6	APN	14	32,279,814 (GRCm39)	missense	probably benign	0.05
IGL03150:Ercc6	APN	14	32,280,531 (GRCm39)	missense	probably damaging	0.96
R0152:Ercc6	UTSW	14	32,268,862 (GRCm39)	critical splice donor site	probably benign
R0519:Ercc6	UTSW	14	32,248,799 (GRCm39)	missense	probably damaging	1.00
R0591:Ercc6	UTSW	14	32,279,973 (GRCm39)	splice site	probably benign
R0946:Ercc6	UTSW	14	32,274,578 (GRCm39)	missense	probably benign	0.08
R1313:Ercc6	UTSW	14	32,274,677 (GRCm39)	splice site	probably benign
R1506:Ercc6	UTSW	14	32,291,821 (GRCm39)	missense	probably benign	0.01
R1528:Ercc6	UTSW	14	32,240,979 (GRCm39)	missense	probably damaging	0.98
R1711:Ercc6	UTSW	14	32,248,133 (GRCm39)	missense	probably damaging	1.00
R1753:Ercc6	UTSW	14	32,298,956 (GRCm39)	missense	probably benign
R1795:Ercc6	UTSW	14	32,238,985 (GRCm39)	missense	probably benign	0.05
R1843:Ercc6	UTSW	14	32,268,777 (GRCm39)	missense	probably damaging	0.99
R1853:Ercc6	UTSW	14	32,298,773 (GRCm39)	missense	possibly damaging	0.86
R1859:Ercc6	UTSW	14	32,248,735 (GRCm39)	missense	probably damaging	1.00
R1912:Ercc6	UTSW	14	32,298,760 (GRCm39)	missense	probably damaging	1.00
R2308:Ercc6	UTSW	14	32,288,366 (GRCm39)	missense	possibly damaging	0.70
R2322:Ercc6	UTSW	14	32,248,274 (GRCm39)	missense	probably damaging	1.00
R2386:Ercc6	UTSW	14	32,263,316 (GRCm39)	splice site	probably null
R4170:Ercc6	UTSW	14	32,288,754 (GRCm39)	missense	probably damaging	1.00
R4369:Ercc6	UTSW	14	32,239,164 (GRCm39)	missense	probably damaging	0.96
R4389:Ercc6	UTSW	14	32,296,865 (GRCm39)	nonsense	probably null
R4747:Ercc6	UTSW	14	32,291,864 (GRCm39)	missense	probably benign	0.00
R4811:Ercc6	UTSW	14	32,296,886 (GRCm39)	missense	probably benign	0.20
R4840:Ercc6	UTSW	14	32,263,253 (GRCm39)	missense	probably damaging	1.00
R4973:Ercc6	UTSW	14	32,296,859 (GRCm39)	missense	probably damaging	1.00
R5068:Ercc6	UTSW	14	32,292,020 (GRCm39)	missense	probably benign	0.01
R5069:Ercc6	UTSW	14	32,292,020 (GRCm39)	missense	probably benign	0.01
R5070:Ercc6	UTSW	14	32,292,020 (GRCm39)	missense	probably benign	0.01
R5093:Ercc6	UTSW	14	32,289,479 (GRCm39)	missense	probably damaging	1.00
R5265:Ercc6	UTSW	14	32,291,580 (GRCm39)	missense	probably benign	0.01
R5272:Ercc6	UTSW	14	32,240,985 (GRCm39)	nonsense	probably null
R5499:Ercc6	UTSW	14	32,238,916 (GRCm39)	start codon destroyed	probably null	0.98
R5795:Ercc6	UTSW	14	32,248,309 (GRCm39)	missense	probably damaging	0.98
R6258:Ercc6	UTSW	14	32,279,813 (GRCm39)	missense	probably benign	0.00
R6260:Ercc6	UTSW	14	32,279,813 (GRCm39)	missense	probably benign	0.00
R6267:Ercc6	UTSW	14	32,248,360 (GRCm39)	nonsense	probably null
R6291:Ercc6	UTSW	14	32,291,943 (GRCm39)	missense	probably benign	0.01
R6296:Ercc6	UTSW	14	32,248,360 (GRCm39)	nonsense	probably null
R6361:Ercc6	UTSW	14	32,239,067 (GRCm39)	missense	probably benign	0.00
R6500:Ercc6	UTSW	14	32,248,780 (GRCm39)	missense	probably damaging	0.96
R6555:Ercc6	UTSW	14	32,239,064 (GRCm39)	missense	probably benign	0.15
R6724:Ercc6	UTSW	14	32,288,288 (GRCm39)	missense	probably benign	0.01
R6925:Ercc6	UTSW	14	32,284,565 (GRCm39)	missense	probably damaging	0.99
R7143:Ercc6	UTSW	14	32,292,262 (GRCm39)	missense	probably damaging	1.00
R7327:Ercc6	UTSW	14	32,248,361 (GRCm39)	missense	probably benign	0.19
R7396:Ercc6	UTSW	14	32,291,762 (GRCm39)	missense	probably benign	0.00
R7529:Ercc6	UTSW	14	32,282,686 (GRCm39)	nonsense	probably null
R7609:Ercc6	UTSW	14	32,288,318 (GRCm39)	missense	probably benign	0.11
R7802:Ercc6	UTSW	14	32,239,260 (GRCm39)	missense	probably damaging	1.00
R7854:Ercc6	UTSW	14	32,288,249 (GRCm39)	missense	probably damaging	1.00
R7995:Ercc6	UTSW	14	32,284,526 (GRCm39)	missense	probably damaging	0.99
R8181:Ercc6	UTSW	14	32,279,905 (GRCm39)	missense	probably damaging	1.00
R8320:Ercc6	UTSW	14	32,242,972 (GRCm39)	missense	probably benign	0.01
R8388:Ercc6	UTSW	14	32,292,297 (GRCm39)	utr 3 prime	probably benign
R8479:Ercc6	UTSW	14	32,248,363 (GRCm39)	missense	probably benign	0.00
R8831:Ercc6	UTSW	14	32,282,784 (GRCm39)	critical splice donor site	probably null
R8849:Ercc6	UTSW	14	32,291,565 (GRCm39)	missense	probably damaging	1.00
R8912:Ercc6	UTSW	14	32,248,211 (GRCm39)	missense	probably benign	0.40
R9210:Ercc6	UTSW	14	32,291,822 (GRCm39)	missense	probably benign	0.00
R9309:Ercc6	UTSW	14	32,240,904 (GRCm39)	missense	probably damaging	1.00
R9499:Ercc6	UTSW	14	32,284,525 (GRCm39)	missense	probably damaging	1.00
R9552:Ercc6	UTSW	14	32,284,525 (GRCm39)	missense	probably damaging	1.00
R9562:Ercc6	UTSW	14	32,296,924 (GRCm39)	missense	probably damaging	1.00
R9688:Ercc6	UTSW	14	32,297,755 (GRCm39)	missense	probably benign
R9699:Ercc6	UTSW	14	32,282,703 (GRCm39)	missense	probably damaging	1.00
R9743:Ercc6	UTSW	14	32,298,943 (GRCm39)	missense	probably benign	0.01
Z1176:Ercc6	UTSW	14	32,248,444 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- AAGACAGCAGCCAGGTCAGTTTAC -3'
(R):5'- TGCCGATCAATGTGTAGCAGGG -3'

Sequencing Primer
(F):5'- AGAACATTCTGAGGCTGCTGTC -3'
(R):5'- CAAGCTTCAGCAGATGTGGA -3'

Posted On

2013-11-08