Incidental Mutation 'R2214:Ercc4'
ID |
241044 |
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 |
040216-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R2214 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 12927888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 19
(D19E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
[ENSMUST00000141024]
|
AlphaFold |
Q9QZD4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023206
AA Change: D30E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023206 Gene: ENSMUSG00000022545 AA Change: D30E
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: ENSMUST00000138527
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141024
AA Change: D19E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
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 |
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'- TGCAGTTACATCTGTTCTGCGC -3'
(R):5'- TTAAGATCTGCATGGGCTCGG -3'
Sequencing Primer
(F):5'- GTTCTGCGCTCCTTCGG -3'
(R):5'- GAGTCCCTGCAACCGTACAG -3'
|
Posted On |
2014-10-15 |