Mutagenetix > Incidental Mutation

Incidental Mutation 'R9026:Ercc8'

686767

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

068855-MU

Accession Numbers

Essential gene?

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

Stock #

R9026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108295265-108331898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108320389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 325 (E325G)

Ref Sequence

ENSEMBL: ENSMUSP00000059211 (fasta)

Gene Model

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

AlphaFold

Q8CFD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054835
AA Change: E325G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059211
Gene: ENSMUSG00000021694
AA Change: E325G

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,770,909 (GRCm39)	Q33K	possibly damaging	Het
Acap2	A	G	16: 30,925,906 (GRCm39)	L550P	probably damaging	Het
Acsm3	A	T	7: 119,373,845 (GRCm39)	S244C	probably benign	Het
Adam28	T	A	14: 68,846,593 (GRCm39)	D740V	probably benign	Het
Adcy4	C	A	14: 56,016,426 (GRCm39)	V342L	probably damaging	Het
Adcyap1r1	A	G	6: 55,458,107 (GRCm39)	T303A	probably benign	Het
Agr2	T	C	12: 36,046,091 (GRCm39)	V74A	probably benign	Het
Akp3	A	T	1: 87,054,786 (GRCm39)	T374S	possibly damaging	Het
Ankrd36	A	T	11: 5,610,696 (GRCm39)	I1181L	probably benign	Het
Arhgap11a	A	T	2: 113,664,411 (GRCm39)	V624E	probably benign	Het
Arhgap30	A	T	1: 171,228,258 (GRCm39)	D112V	probably damaging	Het
Atp8b4	A	G	2: 126,184,883 (GRCm39)	F927L	probably benign	Het
Bend4	C	A	5: 67,584,475 (GRCm39)	G150C	unknown	Het
Cd300lg	T	A	11: 101,944,998 (GRCm39)	S403T	probably damaging	Het
Cep57l1	T	A	10: 41,607,086 (GRCm39)	Q159L	probably damaging	Het
Cipc	C	T	12: 86,999,634 (GRCm39)	T57M	probably damaging	Het
Def8	T	C	8: 124,186,391 (GRCm39)	C377R	probably damaging	Het
Dock1	A	G	7: 134,720,746 (GRCm39)	D1285G	probably damaging	Het
Efcab10	A	G	12: 33,448,398 (GRCm39)	D77G	probably damaging	Het
Eml4	C	T	17: 83,764,479 (GRCm39)	T663M	probably damaging	Het
Ermap	C	A	4: 119,035,240 (GRCm39)	A583S	probably damaging	Het
F13a1	C	T	13: 37,102,506 (GRCm39)	G406S	probably null	Het
Faap20	T	A	4: 155,335,426 (GRCm39)	C141S	probably benign	Het
Fam193a	A	G	5: 34,616,536 (GRCm39)	T904A	possibly damaging	Het
Garin2	T	C	12: 78,757,097 (GRCm39)	F18S	probably benign	Het
Gas8	A	G	8: 124,260,134 (GRCm39)	D455G	probably benign	Het
Gm21863	T	C	12: 20,004,521 (GRCm39)	S6P	probably damaging	Het
Gm4841	A	T	18: 60,403,988 (GRCm39)	I35N	probably damaging	Het
Grk4	T	A	5: 34,877,084 (GRCm39)	C260S	probably damaging	Het
Huwe1	G	A	X: 150,716,084 (GRCm39)	R4331Q	unknown	Het
Ighv5-6	A	G	12: 113,589,247 (GRCm39)	Y78H	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	T	A	5: 150,876,491 (GRCm39)	S104T	probably benign	Het
Lyve1	C	A	7: 110,453,182 (GRCm39)	C138F	probably damaging	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Mical3	A	T	6: 120,986,848 (GRCm39)		probably benign	Het
Mrgpra4	C	A	7: 47,631,208 (GRCm39)	R131L	possibly damaging	Het
Myf5	T	C	10: 107,321,308 (GRCm39)	N162S	probably benign	Het
Myh15	G	A	16: 49,007,433 (GRCm39)	E1835K	probably damaging	Het
Myo9a	T	A	9: 59,716,757 (GRCm39)	Y486N	probably damaging	Het
Ncapg	T	A	5: 45,853,115 (GRCm39)	N860K	probably benign	Het
Nr4a3	T	C	4: 48,052,194 (GRCm39)	F316S	possibly damaging	Het
Nsd3	T	A	8: 26,172,576 (GRCm39)	S778R	probably benign	Het
Or2r2	A	G	6: 42,463,795 (GRCm39)	F111L	probably damaging	Het
Or4c119	A	T	2: 88,986,988 (GRCm39)	V177E	probably benign	Het
Or4c31	A	G	2: 88,292,196 (GRCm39)	I190V	probably damaging	Het
Or5p6	A	G	7: 107,631,286 (GRCm39)	F88S	probably damaging	Het
Or7e173	T	C	9: 19,938,344 (GRCm39)	N297D		Het
Or8b37	T	A	9: 37,958,885 (GRCm39)	Y122*	probably null	Het
Or8w1	A	T	2: 87,465,369 (GRCm39)	C241S	probably damaging	Het
Or9m2	A	G	2: 87,820,568 (GRCm39)	T38A	probably damaging	Het
Pdlim4	C	T	11: 53,946,280 (GRCm39)	G231S	probably benign	Het
Pknox2	C	T	9: 36,821,044 (GRCm39)	V273I	possibly damaging	Het
Pm20d1	A	G	1: 131,739,822 (GRCm39)	H390R	probably benign	Het
Prkg2	A	T	5: 99,114,386 (GRCm39)	D587E	probably benign	Het
Prps1l1	T	A	12: 35,035,546 (GRCm39)	D220E	possibly damaging	Het
Prss3l	A	G	6: 41,422,990 (GRCm39)	F4L	probably benign	Het
Ptchd3	T	C	11: 121,721,682 (GRCm39)	V185A	possibly damaging	Het
Rag2	A	T	2: 101,460,494 (GRCm39)	N268I	possibly damaging	Het
Rarres2	A	G	6: 48,549,020 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,860,223 (GRCm39)	H1000R	probably benign	Het
S100a2	A	T	3: 90,498,811 (GRCm39)	Y104F	unknown	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpinb6d	A	T	13: 33,851,656 (GRCm39)	T138S	possibly damaging	Het
Slamf7	T	A	1: 171,466,312 (GRCm39)	I228F	probably benign	Het
Slc11a1	G	A	1: 74,416,325 (GRCm39)	V92M	probably damaging	Het
Spi1	A	G	2: 90,912,862 (GRCm39)	N5S	unknown	Het
Stard9	G	T	2: 120,536,283 (GRCm39)	D4151Y	probably damaging	Het
Stmnd1	A	G	13: 46,452,983 (GRCm39)	T220A	probably benign	Het
Tacc2	G	T	7: 130,225,266 (GRCm39)	W650C	probably damaging	Het
Tmc5	A	G	7: 118,241,594 (GRCm39)	N429S	possibly damaging	Het
Tmem201	A	C	4: 149,812,627 (GRCm39)	L230V	probably benign	Het
Tmem222	T	C	4: 132,997,119 (GRCm39)	E94G	possibly damaging	Het
Trappc4	A	G	9: 44,315,655 (GRCm39)	F186S	probably damaging	Het
Trim17	A	G	11: 58,862,273 (GRCm39)	N435S	probably benign	Het
Trim68	A	T	7: 102,329,447 (GRCm39)	L227Q	probably damaging	Het
Tuba3b	T	G	6: 145,563,996 (GRCm39)	V14G	possibly damaging	Het
Ubr2	G	T	17: 47,245,041 (GRCm39)	H1662N	probably damaging	Het
Vps13c	T	A	9: 67,861,863 (GRCm39)	V2915E	probably damaging	Het
Vsig10	C	T	5: 117,476,323 (GRCm39)	T259I	probably benign	Het
Zfp267	A	G	3: 36,219,066 (GRCm39)	Y363C	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
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
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'- TGTTGCCGTTATAGCTCAGGC -3'
(R):5'- CAAAGGTGGATTGACGGTATCATAC -3'

Sequencing Primer
(F):5'- CTCAGGCTTTAGTGGTGAGTAAC -3'
(R):5'- GGATTGACGGTATCATACATACTTC -3'

Posted On

2021-11-19