Incidental Mutation 'R5684:Ercc4'
| ID |
443248 |
| 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 |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12948465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 561
(C561S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
[ENSMUST00000141024]
|
| AlphaFold |
Q9QZD4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023206
AA Change: C561S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: C561S
| 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
AA Change: C471S
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156393
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,004,154 (GRCm39) |
K104E |
probably damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
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 |
|
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 |
|
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'- CAAACAAGGAGCGTGCTTCC -3'
(R):5'- TGTATTAAAGCCTGCAGAACTGTC -3'
Sequencing Primer
(F):5'- GAGCTGACTCTGACGCAAG -3'
(R):5'- TGCAGAACTGTCAGGCAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation