Incidental Mutation 'R7948:Ercc4'
| ID |
615996 |
| 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 |
045993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R7948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12948049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 422
(D422G)
|
| 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: D422G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: D422G
| 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: D332G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141024
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
CGGTCTAGCTGAGCAGGAGGCAGCTCAGG |
CGG |
14: 70,394,815 (GRCm39) |
|
probably null |
Het |
| Abca8a |
A |
T |
11: 109,941,805 (GRCm39) |
Y1155N |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,687,199 (GRCm39) |
R435K |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,707,707 (GRCm39) |
D1233G |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,961,194 (GRCm39) |
R1639H |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,832,910 (GRCm39) |
T496A |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,508,258 (GRCm39) |
M1257V |
probably benign |
Het |
| Cpne3 |
A |
G |
4: 19,528,186 (GRCm39) |
|
probably null |
Het |
| Cts3 |
T |
C |
13: 61,713,863 (GRCm39) |
E288G |
probably benign |
Het |
| Deup1 |
T |
C |
9: 15,521,944 (GRCm39) |
K74E |
possibly damaging |
Het |
| Epn1 |
T |
A |
7: 5,092,992 (GRCm39) |
Y101* |
probably null |
Het |
| Exoc6 |
A |
C |
19: 37,565,422 (GRCm39) |
N166T |
probably benign |
Het |
| Fam89a |
T |
C |
8: 125,478,409 (GRCm39) |
Y47C |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,183,219 (GRCm39) |
Q1753H |
probably damaging |
Het |
| Gal3st4 |
C |
T |
5: 138,269,262 (GRCm39) |
R66Q |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Golm1 |
C |
A |
13: 59,812,011 (GRCm39) |
|
probably null |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,230 (GRCm39) |
H434R |
probably damaging |
Het |
| Hbegf |
A |
G |
18: 36,639,752 (GRCm39) |
L194S |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,239,279 (GRCm39) |
S301P |
probably benign |
Het |
| Il9r |
A |
C |
11: 32,144,486 (GRCm39) |
C106W |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,994 (GRCm39) |
D389G |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,921,174 (GRCm39) |
D3373E |
possibly damaging |
Het |
| Mkrn1 |
T |
A |
6: 39,377,344 (GRCm39) |
Y361F |
probably benign |
Het |
| Mtrex |
C |
T |
13: 113,058,296 (GRCm39) |
R45Q |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,786 (GRCm39) |
I4169N |
unknown |
Het |
| Myo7a |
C |
T |
7: 97,724,236 (GRCm39) |
G1150S |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,135,306 (GRCm39) |
D503G |
probably benign |
Het |
| Nmnat3 |
A |
G |
9: 98,281,535 (GRCm39) |
I46V |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nrros |
A |
T |
16: 31,981,076 (GRCm39) |
N17K |
unknown |
Het |
| Or51a39 |
C |
T |
7: 102,362,895 (GRCm39) |
V242I |
probably benign |
Het |
| Patj |
A |
T |
4: 98,312,547 (GRCm39) |
K295M |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,516,222 (GRCm39) |
T167A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,815,180 (GRCm39) |
L1212* |
probably null |
Het |
| Peg3 |
T |
A |
7: 6,711,781 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,432,420 (GRCm39) |
N77K |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,393,903 (GRCm39) |
I257V |
possibly damaging |
Het |
| Ptprc |
G |
A |
1: 137,992,314 (GRCm39) |
T1132I |
probably benign |
Het |
| Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,240,156 (GRCm39) |
M293K |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,833,229 (GRCm39) |
W1749R |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,302,091 (GRCm39) |
Y1020* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,598,523 (GRCm39) |
Y19463* |
probably null |
Het |
| Tubgcp5 |
T |
A |
7: 55,443,996 (GRCm39) |
D18E |
probably benign |
Het |
| Ubtd1 |
T |
A |
19: 42,022,174 (GRCm39) |
F149I |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,349,658 (GRCm39) |
K3279R |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,642,540 (GRCm39) |
T1117A |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,096 (GRCm39) |
C289S |
unknown |
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 |
|
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 |
|
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'- GAACAATTTGCAAACTGGGTTC -3'
(R):5'- ACTTGCGTCAGAGTCAGCTC -3'
Sequencing Primer
(F):5'- AACTGGGTTCTTTAACGGAAGATGC -3'
(R):5'- CTTCCTTTTGAGAGGGGCCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation