Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02998:Ercc6'

407212

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02998

Quality Score

Status

Chromosome

Chromosomal Location

32235478-32302947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32279814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 610 (I610V)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

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

AlphaFold

F8VPZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000066807
AA Change: I610V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: I610V

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: ENSMUST00000227434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228035

Predicted Effect

probably benign
Transcript: ENSMUST00000228549

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,912,862 (GRCm39)	A1329V	probably benign	Het
Bhlha9	G	A	11: 76,563,570 (GRCm39)	A66T	probably damaging	Het
Dock10	G	A	1: 80,551,259 (GRCm39)	R681W	probably damaging	Het
Dst	T	C	1: 34,307,356 (GRCm39)	L1433P	probably damaging	Het
Fras1	T	C	5: 96,850,040 (GRCm39)	F1859S	possibly damaging	Het
Gad1	A	G	2: 70,420,163 (GRCm39)	Y349C	probably damaging	Het
Galnt1	T	A	18: 24,397,469 (GRCm39)	I190N	probably damaging	Het
Gm28042	G	A	2: 119,870,635 (GRCm39)	V768I	possibly damaging	Het
Gm8220	T	C	14: 44,525,765 (GRCm39)		probably null	Het
Higd1a	A	G	9: 121,678,690 (GRCm39)		probably benign	Het
Itga4	T	A	2: 79,108,165 (GRCm39)	Y206N	possibly damaging	Het
Itpk1	A	G	12: 102,545,398 (GRCm39)	V235A	probably damaging	Het
Itpka	A	G	2: 119,581,242 (GRCm39)	Q425R	possibly damaging	Het
Kpna6	T	A	4: 129,549,297 (GRCm39)	I162F	probably benign	Het
Msantd1	A	G	5: 35,078,768 (GRCm39)	D101G	probably damaging	Het
Ntrk3	T	C	7: 78,227,405 (GRCm39)	I43V	probably damaging	Het
Pias3	G	A	3: 96,609,495 (GRCm39)	E271K	probably damaging	Het
Pparg	A	G	6: 115,440,049 (GRCm39)	I178V	probably benign	Het
Rxfp3	A	T	15: 11,037,054 (GRCm39)	M106K	probably damaging	Het
Scn3b	G	A	9: 40,199,713 (GRCm39)	V210M	possibly damaging	Het
Shisa3	A	G	5: 67,765,848 (GRCm39)	D33G	possibly damaging	Het
Suz12	T	A	11: 79,920,149 (GRCm39)	W570R	probably damaging	Het
Vmn2r107	A	T	17: 20,578,017 (GRCm39)	K442M	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
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
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

Posted On

2016-08-02