Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:Ercc8'

58625

Institutional Source

Beutler Lab

Gene Symbol

Ercc8

Ensembl Gene

ENSMUSG00000021694

Gene Name

excision repaiross-complementing rodent repair deficiency, complementation group 8

Synonyms

B130065P18Rik, 2810431L23Rik, 4631412O06Rik, 2410022P04Rik, Ckn1, Csa

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R0620 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

108295265-108331898 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 108310595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054835] [ENSMUST00000120672] [ENSMUST00000123182] [ENSMUST00000123657] [ENSMUST00000129117] [ENSMUST00000133957] [ENSMUST00000152634] [ENSMUST00000142931]

AlphaFold

Q8CFD5

Predicted Effect

probably null
Transcript: ENSMUST00000054835

SMART Domains

Protein: ENSMUSP00000059211
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
WD40	35	72	3.21e-1	SMART
WD40	81	128	9.75e-3	SMART
WD40	175	215	2.71e-10	SMART
WD40	234	273	9.24e-4	SMART
WD40	323	362	7.5e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120672
AA Change: G184D

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

SMART Domains

Protein: ENSMUSP00000112746
Gene: ENSMUSG00000021694
AA Change: G184D

Domain	Start	End	E-Value	Type
WD40	35	72	3.21e-1	SMART
WD40	81	128	9.75e-3	SMART
Blast:WD40	137	172	6e-6	BLAST
low complexity region	186	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123138

SMART Domains

Protein: ENSMUSP00000119212
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	2	54	4e-29	PDB
Blast:WD40	28	54	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123182

SMART Domains

Protein: ENSMUSP00000121777
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123657

SMART Domains

Protein: ENSMUSP00000117492
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129117

SMART Domains

Protein: ENSMUSP00000116507
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000133957

SMART Domains

Protein: ENSMUSP00000116226
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	54	3e-30	PDB
Blast:WD40	28	54	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000152634

SMART Domains

Protein: ENSMUSP00000122802
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
PDB:4A11\|B	1	57	9e-32	PDB
Blast:WD40	31	57	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142931

SMART Domains

Protein: ENSMUSP00000118154
Gene: ENSMUSG00000021694

Domain	Start	End	E-Value	Type
WD40	35	72	3.21e-1	SMART
WD40	81	128	9.75e-3	SMART

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
B3galt2	A	G	1: 143,521,878 (GRCm39)	R5G	probably damaging	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ect2	C	T	3: 27,193,801 (GRCm39)	A226T	probably damaging	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Fank1	A	G	7: 133,478,494 (GRCm39)	Y185C	probably damaging	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Mtss2	C	T	8: 111,464,580 (GRCm39)	P322S	probably damaging	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,099,864 (GRCm39)	D170V	probably benign	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn1r184	C	A	7: 25,966,602 (GRCm39)	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	Het

Other mutations in Ercc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Ercc8	APN	13	108,305,993 (GRCm39)	missense	probably damaging	1.00
IGL02074:Ercc8	APN	13	108,295,318 (GRCm39)	unclassified	probably benign
B5639:Ercc8	UTSW	13	108,297,257 (GRCm39)	missense	probably damaging	0.96
R1909:Ercc8	UTSW	13	108,312,100 (GRCm39)	nonsense	probably null
R2509:Ercc8	UTSW	13	108,320,251 (GRCm39)	splice site	probably benign
R2967:Ercc8	UTSW	13	108,297,248 (GRCm39)	missense	probably damaging	1.00
R3857:Ercc8	UTSW	13	108,330,648 (GRCm39)	missense	possibly damaging	0.82
R4941:Ercc8	UTSW	13	108,297,301 (GRCm39)	unclassified	probably benign
R5585:Ercc8	UTSW	13	108,312,123 (GRCm39)	missense	probably damaging	0.99
R6023:Ercc8	UTSW	13	108,315,111 (GRCm39)	missense	probably damaging	1.00
R6363:Ercc8	UTSW	13	108,320,404 (GRCm39)	missense	probably damaging	1.00
R6483:Ercc8	UTSW	13	108,320,344 (GRCm39)	missense	probably damaging	0.99
R6825:Ercc8	UTSW	13	108,295,343 (GRCm39)	missense	probably damaging	0.97
R7151:Ercc8	UTSW	13	108,323,816 (GRCm39)	critical splice donor site	probably null
R7166:Ercc8	UTSW	13	108,305,967 (GRCm39)	missense	possibly damaging	0.94
R7710:Ercc8	UTSW	13	108,320,397 (GRCm39)	missense	probably benign
R8395:Ercc8	UTSW	13	108,323,788 (GRCm39)	nonsense	probably null
R8678:Ercc8	UTSW	13	108,306,027 (GRCm39)	critical splice donor site	probably null
R8744:Ercc8	UTSW	13	108,320,307 (GRCm39)	missense	probably benign
R9026:Ercc8	UTSW	13	108,320,389 (GRCm39)	missense	possibly damaging	0.51
R9191:Ercc8	UTSW	13	108,305,914 (GRCm39)	missense	probably benign	0.05
R9281:Ercc8	UTSW	13	108,320,364 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGTGCAGACACAGGTCCATGTCTC -3'
(R):5'- TGGTTTTCATGTAGAAACAGCCGGG -3'

Sequencing Primer
(F):5'- TCTCGGCCATAGCCAGTAGAG -3'
(R):5'- AGTCTCAACAGCGCAGTTTTAC -3'

Posted On

2013-07-11