Mutagenetix > Incidental Mutation

Incidental Mutation 'R5272:Ercc6'

400436

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

042836-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R5272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32235478-32302947 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 32240985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 170 (K170*)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

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

AlphaFold

F8VPZ5

Predicted Effect

probably null
Transcript: ENSMUST00000066807
AA Change: K170*

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: K170*

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	G	3: 32,772,759 (GRCm39)	E245G	probably damaging	Het
Arsb	A	T	13: 93,930,670 (GRCm39)	T213S	possibly damaging	Het
Cep152	G	A	2: 125,452,950 (GRCm39)	T374I	probably benign	Het
Crx	C	T	7: 15,602,210 (GRCm39)	C156Y	probably damaging	Het
Csmd1	T	A	8: 16,249,958 (GRCm39)	T1007S	probably damaging	Het
Cyp19a1	A	T	9: 54,083,898 (GRCm39)	C164S	probably benign	Het
Ddx55	A	T	5: 124,696,092 (GRCm39)	I137F	possibly damaging	Het
Dgkg	C	A	16: 22,407,044 (GRCm39)		probably null	Het
Dicer1	A	G	12: 104,670,499 (GRCm39)	I1022T	probably damaging	Het
Dis3l2	T	C	1: 86,901,126 (GRCm39)	V439A	possibly damaging	Het
Dnah5	T	C	15: 28,350,811 (GRCm39)	V2611A	probably benign	Het
Dnah6	A	G	6: 73,104,844 (GRCm39)		probably null	Het
Fibcd1	A	T	2: 31,706,635 (GRCm39)	C399S	probably damaging	Het
Fibcd1	G	T	2: 31,706,636 (GRCm39)	N398K	probably damaging	Het
Fnbp4	G	A	2: 90,583,459 (GRCm39)	M327I	probably benign	Het
Fryl	A	T	5: 73,222,479 (GRCm39)	L256*	probably null	Het
Galr1	T	A	18: 82,423,761 (GRCm39)	Y172F	probably benign	Het
Gpi1	T	C	7: 33,920,115 (GRCm39)	N186S	probably damaging	Het
Kcnh8	A	G	17: 53,212,043 (GRCm39)	I614V	probably damaging	Het
Krt23	A	T	11: 99,369,099 (GRCm39)	I398N	probably damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Mup6	G	C	4: 60,005,922 (GRCm39)	G138A	probably damaging	Het
Nectin3	A	G	16: 46,268,839 (GRCm39)	V521A	possibly damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nphs1	A	G	7: 30,181,067 (GRCm39)	E1096G	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Panx1	C	T	9: 14,956,152 (GRCm39)		probably null	Het
Pcdhb4	A	G	18: 37,440,819 (GRCm39)	Y43C	probably benign	Het
Plbd1	A	G	6: 136,617,156 (GRCm39)	Y62H	probably damaging	Het
Rab40b	A	G	11: 121,248,134 (GRCm39)	V190A	probably damaging	Het
Ryr3	T	C	2: 112,483,558 (GRCm39)	E4063G	probably damaging	Het
Smlr1	T	C	10: 25,411,925 (GRCm39)	I21V	probably benign	Het
Tenm4	T	A	7: 96,523,410 (GRCm39)	Y1614N	probably damaging	Het
Tesmin	C	A	19: 3,456,992 (GRCm39)	A257E	probably damaging	Het
Tgif1	A	G	17: 71,153,249 (GRCm39)	L34P	probably damaging	Het
Ticrr	C	A	7: 79,319,353 (GRCm39)	T446K	probably benign	Het
Tmc7	A	G	7: 118,160,276 (GRCm39)	I187T	probably benign	Het
Tpst2	T	A	5: 112,455,818 (GRCm39)	V119E	probably damaging	Het
Trf	A	T	9: 103,105,177 (GRCm39)	M45K	probably damaging	Het
Trim45	T	C	3: 100,837,235 (GRCm39)	C524R	probably damaging	Het
Ttc27	G	A	17: 75,049,972 (GRCm39)	V293I	probably damaging	Het
Ugt1a6b	C	T	1: 88,034,949 (GRCm39)	R96C	possibly damaging	Het
Vit	A	G	17: 78,894,264 (GRCm39)	Q222R	probably benign	Het
Zfp148	T	A	16: 33,316,594 (GRCm39)	V380D	probably 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
R0894:Ercc6	UTSW	14	32,238,985 (GRCm39)	missense	probably benign	0.05
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
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'- TTGCAAATATTCATGGGCTGG -3'
(R):5'- AACTGCCCCTGAGTATGGATG -3'

Sequencing Primer
(F):5'- GTTTAAACCACCTGAGAAGACAG -3'
(R):5'- CACATGGTGGCTGACAACTATCTG -3'

Posted On

2016-07-06