Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Ercc6'

365501

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: 0.422) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

32235478-32302947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32292060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1141 (S1141R)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

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

AlphaFold

F8VPZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000066807
AA Change: S1141R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: S1141R

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,242,636 (GRCm39)	I1364V	possibly damaging	Het
Adamts19	T	A	18: 59,122,037 (GRCm39)	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,342,594 (GRCm39)	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,658,303 (GRCm39)	T536S	probably damaging	Het
Capg	T	A	6: 72,539,827 (GRCm39)	I340N	probably damaging	Het
Casc3	T	A	11: 98,719,749 (GRCm39)	M567K	probably damaging	Het
Chmp1a	T	C	8: 123,934,806 (GRCm39)	E50G	probably damaging	Het
Cryba1	T	C	11: 77,610,207 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,965,735 (GRCm39)	Y2356N	probably damaging	Het
Exd2	T	A	12: 80,527,302 (GRCm39)	V165D	probably damaging	Het
Fbln1	A	T	15: 85,115,663 (GRCm39)	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,143,163 (GRCm39)	K384E	probably damaging	Het
Ggt5	A	G	10: 75,439,962 (GRCm39)	I188V	probably benign	Het
Gm42742	A	T	7: 126,616,018 (GRCm39)	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542 (GRCm39)	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,499,188 (GRCm39)	S239N	possibly damaging	Het
Klf11	C	T	12: 24,705,626 (GRCm39)	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,672,098 (GRCm39)		probably benign	Het
Magea8	A	T	X: 153,769,678 (GRCm39)	C144S	probably damaging	Het
Med4	A	G	14: 73,755,361 (GRCm39)	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,555,232 (GRCm39)	F153L	probably damaging	Het
Nav3	C	A	10: 109,572,814 (GRCm39)	R1615L	probably damaging	Het
Nisch	A	G	14: 30,902,769 (GRCm39)		probably benign	Het
Nr1i3	A	T	1: 171,041,964 (GRCm39)	Y16F	probably benign	Het
Or5w1	C	A	2: 87,487,058 (GRCm39)	C69F	probably damaging	Het
Or7e169	G	A	9: 19,757,550 (GRCm39)	R122*	probably null	Het
Or7g16	A	G	9: 18,727,024 (GRCm39)	C189R	probably damaging	Het
Or8g34	A	G	9: 39,373,077 (GRCm39)	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,383,479 (GRCm39)	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,143,378 (GRCm39)	P175L	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbm20	C	A	19: 53,802,133 (GRCm39)	L214I	probably benign	Het
Rhox2f	T	C	X: 36,753,334 (GRCm39)	V24A	probably benign	Het
Scnm1	T	C	3: 95,040,348 (GRCm39)	K96E	probably benign	Het
Sec16a	A	C	2: 26,309,735 (GRCm39)	D2090E	probably benign	Het
Smg6	T	C	11: 74,821,576 (GRCm39)		probably null	Het
Snx2	T	C	18: 53,327,630 (GRCm39)	S119P	probably benign	Het
Stam	A	G	2: 14,120,779 (GRCm39)		probably benign	Het
Sult2b1	T	A	7: 45,384,698 (GRCm39)	E126V	probably benign	Het
Tor1aip1	T	C	1: 155,911,590 (GRCm39)	E131G	probably damaging	Het
Ttn	C	T	2: 76,619,040 (GRCm39)	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,135,131 (GRCm39)	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,529,922 (GRCm39)	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,718,741 (GRCm39)	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,675,474 (GRCm39)	L18Q	possibly damaging	Het
Zfp747	T	C	7: 126,973,666 (GRCm39)	E168G	probably benign	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
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
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

2015-12-18