Incidental Mutation 'R5308:Ercc4'
| ID |
434518 |
| 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 |
042891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R5308 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12948028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 325
(R325L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
[ENSMUST00000141024]
|
| AlphaFold |
Q9QZD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023206
AA Change: R415L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: R415L
| 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: R325L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156393
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.7%
- 10x: 95.4%
- 20x: 91.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
T |
C |
2: 19,528,892 (GRCm39) |
D163G |
probably damaging |
Het |
| Abcd4 |
C |
T |
12: 84,650,067 (GRCm39) |
|
probably null |
Het |
| Alg9 |
T |
C |
9: 50,734,011 (GRCm39) |
S570P |
possibly damaging |
Het |
| Angptl3 |
C |
A |
4: 98,922,723 (GRCm39) |
H255N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Cdc37 |
A |
T |
9: 21,052,060 (GRCm39) |
D326E |
probably benign |
Het |
| Cdk13 |
T |
C |
13: 17,946,898 (GRCm39) |
K6R |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,793,645 (GRCm39) |
K315E |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,951,908 (GRCm39) |
G190S |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,908,419 (GRCm39) |
T107A |
probably benign |
Het |
| Ckap4 |
T |
C |
10: 84,364,238 (GRCm39) |
E275G |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,929,137 (GRCm39) |
D349G |
probably benign |
Het |
| Cyp2d37-ps |
T |
C |
15: 82,574,012 (GRCm39) |
|
noncoding transcript |
Het |
| Dmbt1 |
T |
A |
7: 130,642,751 (GRCm39) |
C190S |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,049,415 (GRCm39) |
F1670L |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,229,797 (GRCm39) |
I144F |
possibly damaging |
Het |
| Eno2 |
C |
A |
6: 124,744,056 (GRCm39) |
V84L |
probably damaging |
Het |
| Fcgr2b |
T |
G |
1: 170,793,279 (GRCm39) |
Q250P |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,606 (GRCm39) |
V109A |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,945,180 (GRCm39) |
K355* |
probably null |
Het |
| Gcfc2 |
T |
C |
6: 81,920,524 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,676,055 (GRCm39) |
G509D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grn |
A |
G |
11: 102,327,018 (GRCm39) |
N160D |
possibly damaging |
Het |
| Hexd |
T |
A |
11: 121,113,095 (GRCm39) |
V510D |
probably damaging |
Het |
| Igfbp1 |
G |
A |
11: 7,149,919 (GRCm39) |
|
probably null |
Het |
| Itga11 |
T |
A |
9: 62,663,051 (GRCm39) |
M589K |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,333,472 (GRCm39) |
S51C |
probably damaging |
Het |
| Klra3 |
T |
C |
6: 130,311,270 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
C |
6: 66,514,675 (GRCm39) |
|
probably null |
Het |
| Matn3 |
CGGGGCTCGGGGGC |
CGGGGC |
12: 9,002,308 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,771,244 (GRCm39) |
Y939N |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,686,834 (GRCm39) |
S58N |
probably benign |
Het |
| Or1j16 |
T |
A |
2: 36,530,706 (GRCm39) |
Y218* |
probably null |
Het |
| Or3a1c |
T |
A |
11: 74,046,397 (GRCm39) |
M139K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,749 (GRCm39) |
E109G |
probably benign |
Het |
| Or4k45 |
C |
T |
2: 111,394,899 (GRCm39) |
A297T |
probably damaging |
Het |
| Paics |
T |
C |
5: 77,104,479 (GRCm39) |
S35P |
probably damaging |
Het |
| Pcnt |
A |
C |
10: 76,192,159 (GRCm39) |
Y2717* |
probably null |
Het |
| Plekho2 |
T |
A |
9: 65,465,957 (GRCm39) |
N144Y |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,565 (GRCm39) |
F17S |
possibly damaging |
Het |
| Prrc2a |
C |
T |
17: 35,380,023 (GRCm39) |
R192H |
unknown |
Het |
| Rbm27 |
T |
A |
18: 42,460,275 (GRCm39) |
M735K |
probably damaging |
Het |
| Rfc1 |
T |
A |
5: 65,436,804 (GRCm39) |
K625N |
probably damaging |
Het |
| Ric8b |
T |
A |
10: 84,783,611 (GRCm39) |
F156L |
probably benign |
Het |
| Romo1 |
C |
A |
2: 155,986,473 (GRCm39) |
A32E |
possibly damaging |
Het |
| Rpl26 |
T |
A |
11: 68,795,284 (GRCm39) |
Y135N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,429,849 (GRCm39) |
V636A |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,477,869 (GRCm39) |
I710N |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,903 (GRCm39) |
I154F |
probably damaging |
Het |
| Snx11 |
A |
G |
11: 96,661,535 (GRCm39) |
S157P |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,383 (GRCm39) |
Q517* |
probably null |
Het |
| Stard4 |
G |
T |
18: 33,336,678 (GRCm39) |
N212K |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,676,168 (GRCm39) |
Y454H |
probably damaging |
Het |
| Stx17 |
A |
T |
4: 48,182,851 (GRCm39) |
|
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,480 (GRCm39) |
T164I |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,428,490 (GRCm39) |
Y485C |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,340,380 (GRCm39) |
M8V |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,948,501 (GRCm39) |
F844L |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,908,544 (GRCm39) |
N1054I |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,185,659 (GRCm39) |
E106D |
probably benign |
Het |
| Zfp85 |
C |
T |
13: 67,896,974 (GRCm39) |
C366Y |
probably damaging |
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 |
|
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'- AGGTGAAAGCATGTGGTTGC -3'
(R):5'- TCTTCCTTTTGAGAGGGGCC -3'
Sequencing Primer
(F):5'- GCATGTGGTTGCTCCCCAAAC -3'
(R):5'- CGGAAGCACGCTCCTTGTTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation