Mutagenetix > Incidental Mutation

Incidental Mutation 'R2967:Ercc8'

263300

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

040523-MU

Accession Numbers

Essential gene?

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

Stock #

R2967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108295265-108331898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108297248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 53 (P53T)

Ref Sequence

ENSEMBL: ENSMUSP00000122802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054835] [ENSMUST00000120672] [ENSMUST00000123182] [ENSMUST00000123657] [ENSMUST00000129117] [ENSMUST00000133957] [ENSMUST00000142931] [ENSMUST00000152634] [ENSMUST00000163558] [ENSMUST00000223734] [ENSMUST00000225702]

AlphaFold

Q8CFD5

Predicted Effect

probably benign
Transcript: ENSMUST00000054835
AA Change: P53T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059211
Gene: ENSMUSG00000021694
AA Change: P53T

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: ENSMUST00000120672
AA Change: P53T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112746
Gene: ENSMUSG00000021694
AA Change: P53T

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

unknown
Transcript: ENSMUST00000123138
AA Change: P49T

SMART Domains

Protein: ENSMUSP00000119212
Gene: ENSMUSG00000021694
AA Change: P49T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123182
AA Change: P53T

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

SMART Domains

Protein: ENSMUSP00000121777
Gene: ENSMUSG00000021694
AA Change: P53T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000123657
AA Change: P53T

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

SMART Domains

Protein: ENSMUSP00000117492
Gene: ENSMUSG00000021694
AA Change: P53T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129117
AA Change: P53T

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

SMART Domains

Protein: ENSMUSP00000116507
Gene: ENSMUSG00000021694
AA Change: P53T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133957
AA Change: P50T

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

SMART Domains

Protein: ENSMUSP00000116226
Gene: ENSMUSG00000021694
AA Change: P50T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137425

Predicted Effect

probably benign
Transcript: ENSMUST00000142931
AA Change: P53T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118154
Gene: ENSMUSG00000021694
AA Change: P53T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152634
AA Change: P53T

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

SMART Domains

Protein: ENSMUSP00000122802
Gene: ENSMUSG00000021694
AA Change: P53T

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: ENSMUST00000163558

SMART Domains

Protein: ENSMUSP00000130532
Gene: ENSMUSG00000068184

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:NDUFA12	20	135	3.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223734

Predicted Effect

probably benign
Transcript: ENSMUST00000225830

Predicted Effect

probably benign
Transcript: ENSMUST00000225702

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,304,131 (GRCm39)	S185G	possibly damaging	Het
Adgra1	G	A	7: 139,455,601 (GRCm39)	E410K	possibly damaging	Het
Aox1	A	T	1: 58,361,993 (GRCm39)	N733I	probably damaging	Het
Bola3	T	A	6: 83,326,280 (GRCm39)	Y24N	probably benign	Het
Cntn6	G	A	6: 104,703,198 (GRCm39)	V135I	probably benign	Het
Eif2s3y	A	T	Y: 1,020,030 (GRCm39)	M353L	probably benign	Het
Gan	A	G	8: 117,910,265 (GRCm39)	K65E	probably damaging	Het
Gm1110	T	C	9: 26,792,339 (GRCm39)	E597G	probably benign	Het
Gsdmc4	T	A	15: 63,773,909 (GRCm39)	H81L	probably benign	Het
Hs2st1	T	A	3: 144,170,899 (GRCm39)	N91I	probably damaging	Het
Or1e31	A	G	11: 73,689,933 (GRCm39)	S217P	possibly damaging	Het
Or7a41	A	T	10: 78,870,887 (GRCm39)	I86F	probably damaging	Het
Pgr	T	C	9: 8,901,819 (GRCm39)	S451P	possibly damaging	Het
Pira13	T	A	7: 3,825,686 (GRCm39)	R394S	probably damaging	Het
Pwp2	A	G	10: 78,018,532 (GRCm39)	L84S	possibly damaging	Het
Rab1a	T	A	11: 20,173,068 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,824,915 (GRCm39)	S388P	probably benign	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Sybu	T	C	15: 44,609,752 (GRCm39)	K172R	probably damaging	Het
Topbp1	C	T	9: 103,219,339 (GRCm39)	A1197V	probably benign	Het
Ttf1	T	A	2: 28,955,395 (GRCm39)	V253D	possibly damaging	Het
Ugt2a2	A	T	5: 87,622,488 (GRCm39)	V160E	probably damaging	Het
Vmn1r81	G	T	7: 11,993,964 (GRCm39)	Q215K	probably damaging	Het
Zfp653	A	G	9: 21,977,026 (GRCm39)	L147P	probably 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
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'- AGCCTTGCAGAATTTGTGGTAATC -3'
(R):5'- GGCATCAACATAAATCCCTGGC -3'

Sequencing Primer
(F):5'- ATTTGTGGTAATCTTGGGGAAATAAG -3'
(R):5'- CCCTGGCTTATTGATTTAACATGAAC -3'

Posted On

2015-02-05