Mutagenetix > Incidental Mutation

Incidental Mutation 'R1912:Ercc6'

210442

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

039930-MU

Accession Numbers

Essential gene?

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

Stock #

R1912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32235478-32302947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32298760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1383 (R1383G)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

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

AlphaFold

F8VPZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000066807
AA Change: R1383G

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

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: R1383G

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

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,582 (GRCm39)	M132V	probably benign	Het
4921524L21Rik	T	A	18: 6,620,205 (GRCm39)	I45N	possibly damaging	Het
Abcb6	A	G	1: 75,156,599 (GRCm39)	V55A	probably benign	Het
Adam28	A	T	14: 68,881,780 (GRCm39)	D105E	probably benign	Het
Ahnak	T	C	19: 8,995,245 (GRCm39)	S5510P	probably damaging	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Alx1	A	G	10: 102,861,222 (GRCm39)	L102P	probably damaging	Het
Ankrd50	C	T	3: 38,510,925 (GRCm39)	V481I	probably benign	Het
Aox4	G	T	1: 58,303,561 (GRCm39)	G1200W	probably damaging	Het
Arhgap45	A	C	10: 79,856,524 (GRCm39)	D24A	probably benign	Het
Arhgef16	A	T	4: 154,364,780 (GRCm39)		probably null	Het
Asic4	A	T	1: 75,445,876 (GRCm39)	Y235F	possibly damaging	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Atg4d	A	G	9: 21,183,935 (GRCm39)	D350G	probably damaging	Het
Auts2	T	C	5: 131,472,412 (GRCm39)	T347A	probably damaging	Het
Bsnd	A	T	4: 106,345,227 (GRCm39)	L73*	probably null	Het
Cachd1	A	T	4: 100,810,366 (GRCm39)	S323C	probably damaging	Het
Cacna1e	A	G	1: 154,312,195 (GRCm39)	I1290T	probably damaging	Het
Cdh8	T	A	8: 99,825,502 (GRCm39)	N498Y	probably damaging	Het
Cdkn3	A	G	14: 47,007,291 (GRCm39)		probably null	Het
Celf2	A	T	2: 6,620,564 (GRCm39)	M40K	probably damaging	Het
Cfap57	A	C	4: 118,472,207 (GRCm39)	S57R	probably damaging	Het
Cfh	A	G	1: 140,063,879 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,754,745 (GRCm39)	S252G	probably benign	Het
Col8a1	T	A	16: 57,448,287 (GRCm39)	I408F	unknown	Het
Corin	C	T	5: 72,515,746 (GRCm39)	C303Y	probably damaging	Het
Crlf2	C	T	5: 109,705,007 (GRCm39)	C66Y	possibly damaging	Het
Csmd1	C	T	8: 16,284,012 (GRCm39)		probably null	Het
Cyp4f16	T	C	17: 32,764,018 (GRCm39)	V270A	probably damaging	Het
Defa29	T	A	8: 21,816,028 (GRCm39)	H113L	possibly damaging	Het
Dhx35	A	T	2: 158,684,227 (GRCm39)	N501Y	probably damaging	Het
Dipk1b	A	G	2: 26,522,716 (GRCm39)	E55G	probably damaging	Het
Dst	A	G	1: 34,330,931 (GRCm39)	R4690G	probably damaging	Het
Elac2	T	A	11: 64,885,089 (GRCm39)	D439E	probably benign	Het
Fat3	T	A	9: 15,881,284 (GRCm39)	Y3196F	probably damaging	Het
Fbxw13	A	T	9: 109,010,611 (GRCm39)	D342E	probably benign	Het
Fmod	A	G	1: 133,968,458 (GRCm39)	N166S	possibly damaging	Het
Folh1	A	G	7: 86,412,175 (GRCm39)	S199P	possibly damaging	Het
Fv1	A	G	4: 147,954,235 (GRCm39)	N267S	possibly damaging	Het
Fyn	T	C	10: 39,402,828 (GRCm39)	V200A	possibly damaging	Het
Gfus	A	T	15: 75,797,498 (GRCm39)	D278E	possibly damaging	Het
Ggnbp2	T	C	11: 84,753,122 (GRCm39)	N39S	probably benign	Het
Gm10509	A	T	17: 21,909,831 (GRCm39)	I53F	possibly damaging	Het
Gpr139	A	T	7: 118,744,102 (GRCm39)	I161N	possibly damaging	Het
Grhl2	C	T	15: 37,358,651 (GRCm39)	T148I	probably damaging	Het
Hmcn1	C	A	1: 150,480,633 (GRCm39)	M4514I	probably benign	Het
Igsf10	T	G	3: 59,236,993 (GRCm39)	T1063P	probably benign	Het
Itgav	A	G	2: 83,625,830 (GRCm39)	Y792C	possibly damaging	Het
Itgb2l	T	C	16: 96,228,135 (GRCm39)	Q456R	probably benign	Het
Jph4	G	A	14: 55,345,818 (GRCm39)	A613V	probably benign	Het
Kcna2	A	G	3: 107,012,717 (GRCm39)	T433A	probably benign	Het
Kmt2e	A	G	5: 23,697,393 (GRCm39)	K97R	probably benign	Het
Krba1	C	A	6: 48,392,699 (GRCm39)	A871E	probably benign	Het
Loxhd1	T	C	18: 77,427,833 (GRCm39)	F468L	probably benign	Het
Lpin1	A	G	12: 16,596,728 (GRCm39)	V713A	probably damaging	Het
Ltbp2	T	A	12: 84,832,637 (GRCm39)	I67F	probably damaging	Het
Mdc1	G	A	17: 36,155,430 (GRCm39)	R35H	probably benign	Het
Mdc1	A	G	17: 36,161,703 (GRCm39)	D872G	probably benign	Het
Mgam	C	T	6: 40,741,119 (GRCm39)	Q959*	probably null	Het
Mttp	T	A	3: 137,821,788 (GRCm39)	T260S	probably benign	Het
Naalad2	A	T	9: 18,287,831 (GRCm39)	D266E	probably benign	Het
Nans	T	A	4: 46,500,162 (GRCm39)	L182H	probably damaging	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nfix	A	T	8: 85,448,306 (GRCm39)	V407E	probably damaging	Het
Nktr	T	A	9: 121,579,306 (GRCm39)		probably benign	Het
Nlrp10	G	A	7: 108,524,602 (GRCm39)	R293*	probably null	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or11h4	G	A	14: 50,974,235 (GRCm39)	P128L	probably damaging	Het
Or12e7	T	C	2: 87,287,727 (GRCm39)	S73P	probably damaging	Het
Or1e21	A	T	11: 73,344,820 (GRCm39)	F73I	probably damaging	Het
Or2f2	T	C	6: 42,767,411 (GRCm39)	I146T	probably benign	Het
Or3a1c	T	C	11: 74,046,711 (GRCm39)	C244R	probably damaging	Het
Or5ak24	T	A	2: 85,260,604 (GRCm39)	N190Y	probably damaging	Het
Or5p68	A	G	7: 107,946,014 (GRCm39)	L58P	probably damaging	Het
Or6d12	A	G	6: 116,492,950 (GRCm39)	T71A	probably benign	Het
Oxld1	A	G	11: 120,347,732 (GRCm39)	V155A	probably damaging	Het
Pamr1	T	A	2: 102,472,645 (GRCm39)	F648Y	probably damaging	Het
Parg	T	C	14: 31,932,497 (GRCm39)	W446R	probably damaging	Het
Pate13	A	T	9: 35,819,915 (GRCm39)	T23S	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Phf7	T	C	14: 30,962,281 (GRCm39)	I175V	possibly damaging	Het
Pibf1	G	A	14: 99,425,245 (GRCm39)		probably null	Het
Plcxd1	A	G	5: 110,251,308 (GRCm39)	I295V	probably benign	Het
Pole2	A	C	12: 69,256,764 (GRCm39)	Y254D	probably damaging	Het
Ppm1e	T	A	11: 87,135,196 (GRCm39)	I225F	probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Resf1	T	A	6: 149,230,342 (GRCm39)	D1129E	possibly damaging	Het
Rnase2b	T	G	14: 51,400,357 (GRCm39)	V146G	probably damaging	Het
Rnf169	G	A	7: 99,575,461 (GRCm39)	T378I	probably damaging	Het
Rpf2	A	G	10: 40,112,197 (GRCm39)	F80L	probably benign	Het
Sec11c	T	A	18: 65,947,945 (GRCm39)	D128E	probably damaging	Het
Septin12	A	G	16: 4,806,417 (GRCm39)	V248A	probably damaging	Het
Serinc1	T	C	10: 57,401,547 (GRCm39)	N82S	probably benign	Het
Serpina9	A	C	12: 103,967,508 (GRCm39)	W296G	probably damaging	Het
Sgo2b	A	C	8: 64,384,503 (GRCm39)	D164E	probably damaging	Het
Slc15a3	A	G	19: 10,825,977 (GRCm39)	N223D	probably damaging	Het
Slc44a3	A	G	3: 121,325,815 (GRCm39)	Y12H	probably benign	Het
Slco3a1	A	G	7: 74,154,359 (GRCm39)	F42S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,993,246 (GRCm39)	D259E	probably damaging	Het
Stpg2	G	A	3: 139,228,742 (GRCm39)		probably null	Het
Strn	T	A	17: 78,991,824 (GRCm39)	Y165F	probably damaging	Het
Sval2	T	A	6: 41,841,254 (GRCm39)	*106R	probably null	Het
Tcaf3	A	G	6: 42,573,622 (GRCm39)	S197P	possibly damaging	Het
Tespa1	C	A	10: 130,190,592 (GRCm39)	T73N	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Thoc5	C	A	11: 4,865,561 (GRCm39)	T380K	probably benign	Het
Tmprss7	T	A	16: 45,476,911 (GRCm39)	R784*	probably null	Het
Trank1	A	T	9: 111,219,777 (GRCm39)	L2171F	probably benign	Het
Trpm2	T	G	10: 77,781,710 (GRCm39)	K303T	probably benign	Het
Unc80	G	A	1: 66,549,784 (GRCm39)	V681M	probably damaging	Het
Usp40	A	G	1: 87,874,368 (GRCm39)	F1131L	probably benign	Het
Vmn1r215	A	T	13: 23,260,673 (GRCm39)	I238F	possibly damaging	Het
Vwa3a	A	T	7: 120,394,850 (GRCm39)	Y890F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,171 (GRCm39)	L234P	probably damaging	Het
Zfp109	A	G	7: 23,927,676 (GRCm39)	S578P	probably damaging	Het
Zfp704	T	C	3: 9,674,418 (GRCm39)	D121G	unknown	Het
Zgrf1	G	T	3: 127,356,786 (GRCm39)	V671L	probably benign	Het
Zkscan8	A	T	13: 21,704,927 (GRCm39)	C265*	probably null	Het
Zscan26	T	C	13: 21,629,310 (GRCm39)	I398V	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
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
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'- AGTTATCCTGAGGGTCCTCAC -3'
(R):5'- CGGACAGCTTGGACTCAAAC -3'

Sequencing Primer
(F):5'- CTCACAGCCTTTGGGGAAGTAG -3'
(R):5'- TTGGACTCAAACTCCTGCAGG -3'

Posted On

2014-06-30