Incidental Mutation 'R6483:Ercc8'
| ID |
517224 |
| 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 |
044615-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.282)
|
| Stock # |
R6483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108295265-108331898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108320344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 310
(V310D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054835]
[ENSMUST00000123657]
[ENSMUST00000133957]
[ENSMUST00000142931]
[ENSMUST00000152634]
|
| AlphaFold |
Q8CFD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054835
AA Change: V310D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059211
Gene: ENSMUSG00000021694
AA Change: V310D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,700,538 (GRCm39) |
L39R |
possibly damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,771 (GRCm39) |
S337P |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,344,226 (GRCm39) |
I12K |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,657,618 (GRCm39) |
V624A |
possibly damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,208 (GRCm39) |
L215Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,425 (GRCm39) |
V963A |
probably benign |
Het |
| Bpifa6 |
T |
C |
2: 153,832,354 (GRCm39) |
L287S |
probably benign |
Het |
| Bsnd |
A |
T |
4: 106,345,212 (GRCm39) |
L78Q |
probably damaging |
Het |
| C1qtnf3 |
T |
C |
15: 10,958,156 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
T |
G |
4: 45,921,950 (GRCm39) |
V1008G |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,068,860 (GRCm39) |
D59A |
possibly damaging |
Het |
| Cfap58 |
T |
C |
19: 47,971,891 (GRCm39) |
I607T |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cntnap4 |
C |
T |
8: 113,484,105 (GRCm39) |
P386L |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,833,444 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,003 (GRCm39) |
D798E |
probably damaging |
Het |
| Eml6 |
T |
G |
11: 29,699,875 (GRCm39) |
I1754L |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,187,171 (GRCm39) |
T1225I |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,910 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm43302 |
T |
A |
5: 105,423,726 (GRCm39) |
M416L |
probably benign |
Het |
| Grxcr2 |
A |
T |
18: 42,124,955 (GRCm39) |
V151E |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,240,066 (GRCm39) |
N296S |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,355,811 (GRCm39) |
I2354N |
possibly damaging |
Het |
| Inhbc |
G |
A |
10: 127,193,309 (GRCm39) |
R236* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,013,975 (GRCm39) |
D2607G |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,676,118 (GRCm39) |
D298V |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Mrgpra2a |
C |
G |
7: 47,076,437 (GRCm39) |
E274Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,356,591 (GRCm39) |
F1059L |
probably benign |
Het |
| Naglu |
T |
C |
11: 100,962,007 (GRCm39) |
I160T |
probably damaging |
Het |
| Nasp |
A |
T |
4: 116,476,145 (GRCm39) |
L47Q |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,447,525 (GRCm39) |
T873I |
possibly damaging |
Het |
| Or10a3n |
C |
T |
7: 108,493,318 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,500 (GRCm39) |
T17A |
probably benign |
Het |
| Or8u10 |
C |
A |
2: 85,915,784 (GRCm39) |
M112I |
probably benign |
Het |
| Pttg1 |
A |
G |
11: 43,315,671 (GRCm39) |
F48L |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,909,218 (GRCm39) |
F85L |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,432 (GRCm39) |
V316A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,026,089 (GRCm39) |
I243T |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,634,029 (GRCm39) |
T183M |
possibly damaging |
Het |
| Tbc1d22a |
A |
G |
15: 86,185,768 (GRCm39) |
M286V |
possibly damaging |
Het |
| Trim69 |
G |
T |
2: 121,998,081 (GRCm39) |
E18* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,772,394 (GRCm39) |
T2503A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp654 |
T |
A |
16: 64,612,310 (GRCm39) |
N192I |
possibly damaging |
Het |
| Zfp809 |
G |
A |
9: 22,147,540 (GRCm39) |
R58H |
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 |
|
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 |
|
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'- AAGGCCCTCTCTATTGAATGCC -3'
(R):5'- ACGAGAGAATAGAACAACTTCCTG -3'
Sequencing Primer
(F):5'- GCCATAATAAATGAAGGAAGTGTTTG -3'
(R):5'- TTTTACACTCTGAGAGTCTGGCAATC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation