Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:Ercc8'

554152

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

045253-MU

Accession Numbers

Essential gene?

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

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108295265-108331898 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 108323816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059211 (fasta)

Gene Model

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

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 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: 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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,630,618 (GRCm39)	Q52L	unknown	Het
Acsl1	A	G	8: 46,966,634 (GRCm39)	D202G	probably damaging	Het
Adam3	A	T	8: 25,185,271 (GRCm39)	C476S	probably damaging	Het
Adam34	T	A	8: 44,104,499 (GRCm39)	E382V	probably benign	Het
Akap5	G	A	12: 76,375,023 (GRCm39)	V152I	probably benign	Het
Aldh5a1	C	T	13: 25,121,382 (GRCm39)	W57*	probably null	Het
Angptl2	C	T	2: 33,133,922 (GRCm39)	Q415*	probably null	Het
Bnc1	G	T	7: 81,623,055 (GRCm39)	T724N	possibly damaging	Het
Brca2	T	C	5: 150,464,901 (GRCm39)	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,643,483 (GRCm39)	D322V	probably damaging	Het
Chsy3	T	A	18: 59,542,357 (GRCm39)	D498E	possibly damaging	Het
Ddx24	T	C	12: 103,390,347 (GRCm39)	T215A	probably benign	Het
Dhx57	A	T	17: 80,580,476 (GRCm39)	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,359,234 (GRCm39)	R3523Q	probably benign	Het
Dock3	T	A	9: 106,841,916 (GRCm39)	D971V	possibly damaging	Het
Erich5	T	A	15: 34,471,095 (GRCm39)	L108Q	probably damaging	Het
F5	A	T	1: 164,029,230 (GRCm39)	Y1743F	probably damaging	Het
Gale	T	C	4: 135,694,503 (GRCm39)	V243A	probably damaging	Het
Gspt1	T	A	16: 11,071,692 (GRCm39)	Q57L	probably benign	Het
Gtf3a	C	A	5: 146,888,085 (GRCm39)	Q129K	probably benign	Het
Heyl	T	C	4: 123,140,254 (GRCm39)	V271A	probably benign	Het
Hsd17b4	T	C	18: 50,261,437 (GRCm39)	F7L	probably damaging	Het
Hspa12a	T	C	19: 58,810,594 (GRCm39)	T150A	probably benign	Het
Ift140	T	A	17: 25,274,699 (GRCm39)	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,260,917 (GRCm39)	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,530,878 (GRCm39)	Y405H	probably damaging	Het
Insyn2a	A	C	7: 134,520,374 (GRCm39)	I52S	probably damaging	Het
Irf2bpl	G	T	12: 86,930,127 (GRCm39)	P182Q	probably benign	Het
Itm2b	C	A	14: 73,605,829 (GRCm39)		probably benign	Het
Kcnc2	T	C	10: 112,294,414 (GRCm39)	V106A	possibly damaging	Het
Krt87	C	A	15: 101,387,529 (GRCm39)	D170Y	probably damaging	Het
Lca5	T	A	9: 83,280,693 (GRCm39)	Y369F	probably benign	Het
Mgat5	T	A	1: 127,373,999 (GRCm39)	D466E	probably damaging	Het
Mier3	C	T	13: 111,851,302 (GRCm39)	P428L	probably benign	Het
Myo6	T	C	9: 80,152,418 (GRCm39)	Y167H	unknown	Het
Neu2	A	G	1: 87,524,297 (GRCm39)	E94G	probably benign	Het
Nlrp9a	A	T	7: 26,256,672 (GRCm39)	K97*	probably null	Het
Npdc1	A	G	2: 25,299,120 (GRCm39)	M306V	probably damaging	Het
Odf2l	A	T	3: 144,832,827 (GRCm39)	N95I	probably benign	Het
Or10j3	A	G	1: 173,031,633 (GRCm39)	K237E	probably damaging	Het
Or13d1	G	T	4: 52,970,665 (GRCm39)	V15L	probably benign	Het
Or5t16	A	G	2: 86,819,385 (GRCm39)	V45A	probably benign	Het
Or7g21	A	G	9: 19,033,037 (GRCm39)	Y259C	possibly damaging	Het
P2ry12	A	G	3: 59,125,127 (GRCm39)	F183L	probably benign	Het
Proser3	A	G	7: 30,239,749 (GRCm39)	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 100,987,511 (GRCm39)	Y117*	probably null	Het
Rab3gap2	G	T	1: 184,980,250 (GRCm39)	V360F	probably benign	Het
Rp1l1	A	T	14: 64,266,475 (GRCm39)	D687V	possibly damaging	Het
Rxfp2	T	G	5: 149,966,572 (GRCm39)	N103K	probably benign	Het
Scfd2	T	A	5: 74,558,326 (GRCm39)	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,517,109 (GRCm39)	A582T	probably damaging	Het
Serpinb6e	T	C	13: 34,021,818 (GRCm39)	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,533,527 (GRCm39)	V194E	probably damaging	Het
Sgcz	T	A	8: 38,006,833 (GRCm39)	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,159,775 (GRCm39)	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,301,420 (GRCm39)	P315S	probably damaging	Het
Spdef	T	A	17: 27,939,134 (GRCm39)	S71C	possibly damaging	Het
Spta1	T	A	1: 174,025,317 (GRCm39)	H727Q	probably damaging	Het
Srsf1	C	T	11: 87,940,084 (GRCm39)	Q199*	probably null	Het
Stard9	A	T	2: 120,526,623 (GRCm39)	D960V	probably benign	Het
Tcp10c	A	T	17: 13,576,166 (GRCm39)	I49F	possibly damaging	Het
Tgm2	T	C	2: 157,971,315 (GRCm39)	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,498,660 (GRCm39)	D812G	probably benign	Het
Tph1	A	T	7: 46,311,541 (GRCm39)	V67D	possibly damaging	Het
Trps1	C	T	15: 50,685,793 (GRCm39)	R794H	possibly damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,387,005 (GRCm39)	T115S	probably benign	Het
Wdr11	A	G	7: 129,208,376 (GRCm39)	D377G	probably damaging	Het
Wdr55	G	T	18: 36,895,989 (GRCm39)	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfp109	A	T	7: 23,929,231 (GRCm39)	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271 (GRCm39)	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,102,119 (GRCm39)	H534R	possibly damaging	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
R0620:Ercc8	UTSW	13	108,310,595 (GRCm39)	critical splice donor site	probably null
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
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'- GAAAGTGAAGGCCATCATACTTTG -3'
(R):5'- TAGCATGTCAATGAGAGAAGACTC -3'

Sequencing Primer
(F):5'- GAAGGCCATCATACTTTGTTTAATG -3'
(R):5'- GCCTTCACCAATTAAAATTGAAAACG -3'

Posted On

2019-05-15