Incidental Mutation 'R0962:Ercc4'
| ID |
81318 |
| 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 |
039091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R0962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12948010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 319
(I319T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
[ENSMUST00000141024]
|
| AlphaFold |
Q9QZD4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023206
AA Change: I409T
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: I409T
| 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: I319T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156393
|
| Meta Mutation Damage Score |
0.5821 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.9%
- 20x: 96.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
A |
11: 84,202,129 (GRCm39) |
A196T |
probably damaging |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,798 (GRCm39) |
R97* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,553,465 (GRCm39) |
I5470V |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,538,497 (GRCm39) |
T754A |
possibly damaging |
Het |
| Agfg1 |
T |
C |
1: 82,864,117 (GRCm39) |
F395S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,212 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
T |
C |
5: 114,262,014 (GRCm39) |
K239E |
possibly damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,827,290 (GRCm39) |
C87* |
probably null |
Het |
| Apob |
A |
G |
12: 8,039,191 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,034,121 (GRCm39) |
P188S |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,605,870 (GRCm39) |
E64K |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,416,192 (GRCm39) |
H647Q |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,498 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,720,039 (GRCm39) |
V429D |
possibly damaging |
Het |
| Cfap299 |
T |
C |
5: 98,714,420 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,128,266 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,353,696 (GRCm39) |
N757K |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,833,432 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,826,932 (GRCm39) |
T111A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,363 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,198,716 (GRCm39) |
W809* |
probably null |
Het |
| Hhipl1 |
A |
G |
12: 108,293,980 (GRCm39) |
K629E |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,223 (GRCm39) |
S126T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,580,832 (GRCm39) |
N24S |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,825,700 (GRCm39) |
I185F |
probably damaging |
Het |
| Impg1 |
C |
T |
9: 80,289,023 (GRCm39) |
D345N |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm7a |
A |
G |
6: 39,124,128 (GRCm39) |
V720A |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,912,293 (GRCm39) |
D212G |
possibly damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,283,846 (GRCm39) |
*139K |
probably null |
Het |
| Lrp11 |
T |
A |
10: 7,466,060 (GRCm39) |
V82D |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,051,964 (GRCm39) |
Y425H |
probably benign |
Het |
| Mfn2 |
T |
C |
4: 147,966,658 (GRCm39) |
N511S |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,979,624 (GRCm39) |
S108P |
probably damaging |
Het |
| Ms4a6c |
C |
T |
19: 11,448,506 (GRCm39) |
T13M |
probably benign |
Het |
| Naip2 |
C |
A |
13: 100,315,893 (GRCm39) |
V296F |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,294 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,217 (GRCm39) |
V254A |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,834 (GRCm39) |
C141S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,815,998 (GRCm39) |
M172V |
probably benign |
Het |
| Pcolce2 |
T |
G |
9: 95,552,087 (GRCm39) |
N73K |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,111,098 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
A |
G |
7: 44,997,146 (GRCm39) |
|
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,463 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,481 (GRCm39) |
|
probably benign |
Het |
| Rpain |
G |
A |
11: 70,865,867 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,147,630 (GRCm39) |
T1754I |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,880 (GRCm39) |
L267Q |
probably damaging |
Het |
| Tex9 |
T |
C |
9: 72,391,374 (GRCm39) |
T92A |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,968,387 (GRCm39) |
I460F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,780,500 (GRCm39) |
Y1084N |
probably damaging |
Het |
| Utp6 |
A |
G |
11: 79,832,694 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
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 |
|
|
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 |
|
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'- TGAAAGCATGTGGTTGCTCCCC -3'
(R):5'- CCCCAAAACTTGCGTCAGAGTCAG -3'
Sequencing Primer
(F):5'- CAAACCCCCTTTTGAACAATTTGC -3'
(R):5'- GAAGCACGCTCCTTGTTTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation