Incidental Mutation 'R3757:Ercc4'
ID |
271498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ercc4
|
Ensembl Gene |
ENSMUSG00000022545 |
Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 4 |
Synonyms |
Xpf |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R3757 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12962360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 668
(T668M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
|
AlphaFold |
Q9QZD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023206
AA Change: T668M
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023206 Gene: ENSMUSG00000022545 AA Change: T668M
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 benign
Transcript: ENSMUST00000129049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156393
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
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 |
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 |
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'- ACCCTCCAGTCATGTATCAGAG -3'
(R):5'- CCTTGCCTGATTCATGGTTTTAAGAG -3'
Sequencing Primer
(F):5'- GTCATGTATCAGAGACAATCCTCCTG -3'
(R):5'- TCTACATAGTGAGTTCCCGGATAGC -3'
|
Posted On |
2015-03-18 |