Incidental Mutation 'R4076:Ercc4'
ID |
316578 |
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 |
040975-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R4076 (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: 95.9%
|
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: 38 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 |
Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
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 |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,796,713 (GRCm39) |
T270A |
probably damaging |
Het |
Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
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 |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
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 |
R4075: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'- ACAGACCAGTAGTAGCCCAG -3'
(R):5'- TCCATCTGGAACGTTCTATCG -3'
Sequencing Primer
(F):5'- GGTAGAGATTAAGCGTGAATCATTTG -3'
(R):5'- GTTCTATCGTTCACCAGAAAGCAG -3'
|
Posted On |
2015-05-15 |