Incidental Mutation 'R1078:Ercc4'
| ID |
85755 |
| 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 |
039164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R1078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12948061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 336
(A336D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
[ENSMUST00000141024]
|
| AlphaFold |
Q9QZD4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023206
AA Change: A426D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: A426D
| 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: A336D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156393
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
| Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
| Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
| Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
| Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
| Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
| Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
| Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,690 (GRCm39) |
H243R |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
| Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
| Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
| Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
| Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
| Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
| Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
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 |
|
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'- AGGTGAAAGCATGTGGTTGCTCC -3'
(R):5'- CCCCAAAACTTGCGTCAGAGTCAG -3'
Sequencing Primer
(F):5'- ATGTGGTTGCTCCCCAAAC -3'
(R):5'- GCGTCAGAGTCAGCTCTTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation