Incidental Mutation 'R4075:Ercc4'
| ID |
316535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ercc4
|
| Ensembl Gene |
ENSMUSG00000022545 |
| Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 4 |
| Synonyms |
Xpf |
| MMRRC Submission |
040974-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12948549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 499
(V499I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
[ENSMUST00000141024]
|
| AlphaFold |
Q9QZD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023206
AA Change: V589I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: V589I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
8 |
187 |
1e-5 |
BLAST |
|
ERCC4
|
684 |
764 |
1.11e-26 |
SMART |
|
low complexity region
|
789 |
802 |
N/A |
INTRINSIC |
|
PDB:2AQ0|B
|
835 |
917 |
6e-37 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129049
AA Change: V499I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156393
|
| Meta Mutation Damage Score |
0.2922 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 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.] The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,969,730 (GRCm39) |
V70E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
| Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
| Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
| Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
| Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
| Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
| Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Ptpn1 |
T |
A |
2: 167,818,433 (GRCm39) |
|
probably null |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,238 (GRCm39) |
E223G |
probably benign |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
Het |
|
| Other mutations in Ercc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Ercc4
|
APN |
16 |
12,943,233 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00805:Ercc4
|
APN |
16 |
12,939,868 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01348:Ercc4
|
APN |
16 |
12,950,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Ercc4
|
APN |
16 |
12,941,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Ercc4
|
APN |
16 |
12,945,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rapscallion
|
UTSW |
16 |
12,944,331 (GRCm39) |
missense |
probably benign |
|
|
Rascal
|
UTSW |
16 |
12,950,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Ercc4
|
UTSW |
16 |
12,962,311 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0212:Ercc4
|
UTSW |
16 |
12,941,196 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0505:Ercc4
|
UTSW |
16 |
12,944,331 (GRCm39) |
missense |
probably benign |
|
|
R0962:Ercc4
|
UTSW |
16 |
12,948,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1078:Ercc4
|
UTSW |
16 |
12,948,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1356:Ercc4
|
UTSW |
16 |
12,943,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1420:Ercc4
|
UTSW |
16 |
12,948,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1554:Ercc4
|
UTSW |
16 |
12,965,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Ercc4
|
UTSW |
16 |
12,965,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Ercc4
|
UTSW |
16 |
12,965,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2214:Ercc4
|
UTSW |
16 |
12,927,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3757:Ercc4
|
UTSW |
16 |
12,962,360 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4072:Ercc4
|
UTSW |
16 |
12,948,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Ercc4
|
UTSW |
16 |
12,948,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4076:Ercc4
|
UTSW |
16 |
12,948,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Ercc4
|
UTSW |
16 |
12,965,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Ercc4
|
UTSW |
16 |
12,965,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Ercc4
|
UTSW |
16 |
12,941,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Ercc4
|
UTSW |
16 |
12,939,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Ercc4
|
UTSW |
16 |
12,941,445 (GRCm39) |
intron |
probably benign |
|
|
R5013:Ercc4
|
UTSW |
16 |
12,941,445 (GRCm39) |
intron |
probably benign |
|
|
R5301:Ercc4
|
UTSW |
16 |
12,948,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Ercc4
|
UTSW |
16 |
12,948,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Ercc4
|
UTSW |
16 |
12,948,465 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6083:Ercc4
|
UTSW |
16 |
12,927,903 (GRCm39) |
nonsense |
probably null |
|
|
R6092:Ercc4
|
UTSW |
16 |
12,943,125 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6815:Ercc4
|
UTSW |
16 |
12,941,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6953:Ercc4
|
UTSW |
16 |
12,948,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Ercc4
|
UTSW |
16 |
12,950,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Ercc4
|
UTSW |
16 |
12,965,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Ercc4
|
UTSW |
16 |
12,939,977 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7858:Ercc4
|
UTSW |
16 |
12,943,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7948:Ercc4
|
UTSW |
16 |
12,948,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8245:Ercc4
|
UTSW |
16 |
12,948,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8408:Ercc4
|
UTSW |
16 |
12,948,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8409:Ercc4
|
UTSW |
16 |
12,948,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9173:Ercc4
|
UTSW |
16 |
12,939,973 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9445:Ercc4
|
UTSW |
16 |
12,945,474 (GRCm39) |
missense |
probably benign |
|
|
R9696:Ercc4
|
UTSW |
16 |
12,950,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Ercc4
|
UTSW |
16 |
12,941,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGACAGACCAGTAGTAGCC -3'
(R):5'- TCCATCTGGAACGTTCTATCG -3'
Sequencing Primer
(F):5'- GGTAGAGATTAAGCGTGAATCATTTG -3'
(R):5'- GTTCTATCGTTCACCAGAAAGCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation