Incidental Mutation 'PIT4812001:Ercc4'
ID |
556940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ercc4
|
Ensembl Gene |
ENSMUSG00000022545 |
Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 4 |
Synonyms |
Xpf |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
PIT4812001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
12927548-12968481 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 12962311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 652
(E652K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023206]
[ENSMUST00000129049]
|
AlphaFold |
Q9QZD4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023206
AA Change: E652K
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023206 Gene: ENSMUSG00000022545 AA Change: E652K
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
|
Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.0%
- 10x: 85.3%
- 20x: 73.0%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,630,053 (GRCm39) |
S252P |
possibly damaging |
Het |
4933409G03Rik |
G |
A |
2: 68,419,292 (GRCm39) |
V14I |
probably benign |
Het |
Adgrf5 |
T |
G |
17: 43,761,260 (GRCm39) |
V985G |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,762,197 (GRCm39) |
Y542* |
probably null |
Het |
Atp13a3 |
T |
C |
16: 30,181,396 (GRCm39) |
T75A |
probably damaging |
Het |
Atr |
T |
C |
9: 95,792,702 (GRCm39) |
F1675L |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,720,055 (GRCm39) |
I1082V |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,768,738 (GRCm39) |
R620S |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,122,293 (GRCm39) |
F391S |
probably benign |
Het |
Cracr2a |
T |
C |
6: 127,602,833 (GRCm39) |
L230P |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,176,744 (GRCm39) |
V1266E |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,665,703 (GRCm39) |
F687I |
probably benign |
Het |
Dnah8 |
C |
A |
17: 30,927,419 (GRCm39) |
D1358E |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,037,346 (GRCm39) |
R84G |
probably benign |
Het |
Dnajc14 |
C |
A |
10: 128,642,552 (GRCm39) |
T158N |
probably damaging |
Het |
Dscc1 |
A |
G |
15: 54,945,657 (GRCm39) |
L346P |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,990,805 (GRCm39) |
I71V |
probably null |
Het |
Erbb3 |
T |
A |
10: 128,410,248 (GRCm39) |
Q670L |
possibly damaging |
Het |
Ercc6l2 |
T |
A |
13: 64,006,071 (GRCm39) |
V591D |
possibly damaging |
Het |
Fam3c |
C |
T |
6: 22,321,369 (GRCm39) |
G134E |
probably damaging |
Het |
Frmd5 |
A |
G |
2: 121,416,927 (GRCm39) |
V70A |
probably benign |
Het |
Gjd3 |
A |
T |
11: 102,691,807 (GRCm39) |
Y65* |
probably null |
Het |
Gm3033 |
A |
C |
14: 3,848,891 (GRCm38) |
L137F |
|
Het |
Gria4 |
C |
A |
9: 4,427,128 (GRCm39) |
A771S |
probably damaging |
Het |
Hc |
A |
G |
2: 34,919,464 (GRCm39) |
L674P |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
G |
1: 58,587,862 (GRCm39) |
D117A |
possibly damaging |
Het |
Inpp5f |
A |
T |
7: 128,294,032 (GRCm39) |
Y696F |
probably benign |
Het |
Itga11 |
C |
A |
9: 62,639,475 (GRCm39) |
Q157K |
probably damaging |
Het |
Itgb5 |
G |
T |
16: 33,740,357 (GRCm39) |
C489F |
probably damaging |
Het |
Klhl38 |
C |
T |
15: 58,185,938 (GRCm39) |
G264S |
probably benign |
Het |
Krt78 |
C |
T |
15: 101,856,504 (GRCm39) |
V436M |
probably damaging |
Het |
Mia2 |
A |
T |
12: 59,148,365 (GRCm39) |
D75V |
possibly damaging |
Het |
Mphosph6 |
T |
A |
8: 118,525,888 (GRCm39) |
Q20L |
probably damaging |
Het |
Ogfr |
C |
T |
2: 180,237,304 (GRCm39) |
P630S |
possibly damaging |
Het |
Or2c1 |
A |
T |
16: 3,657,394 (GRCm39) |
K186* |
probably null |
Het |
Or4c11 |
G |
A |
2: 88,695,314 (GRCm39) |
V122M |
probably benign |
Het |
Or5an9 |
T |
G |
19: 12,187,617 (GRCm39) |
I229S |
probably damaging |
Het |
Pbx3 |
T |
C |
2: 34,114,631 (GRCm39) |
E101G |
probably damaging |
Het |
Pcca |
T |
A |
14: 123,027,794 (GRCm39) |
N587K |
probably benign |
Het |
Pdia3 |
G |
T |
2: 121,264,011 (GRCm39) |
A287S |
probably damaging |
Het |
Pfas |
T |
A |
11: 68,880,862 (GRCm39) |
D209V |
|
Het |
Pramel29 |
A |
G |
4: 143,936,086 (GRCm39) |
I56T |
probably benign |
Het |
Pter |
A |
T |
2: 12,985,179 (GRCm39) |
I170F |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,502,428 (GRCm39) |
V830E |
probably damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,266,315 (GRCm39) |
V446A |
possibly damaging |
Het |
Selp |
A |
G |
1: 163,959,832 (GRCm39) |
N363D |
probably benign |
Het |
Six2 |
C |
A |
17: 85,992,729 (GRCm39) |
S258I |
possibly damaging |
Het |
Smc1b |
A |
G |
15: 84,953,852 (GRCm39) |
V1139A |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,316,843 (GRCm39) |
T121A |
possibly damaging |
Het |
Sucla2 |
A |
T |
14: 73,816,889 (GRCm39) |
I210L |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,176,980 (GRCm39) |
L339P |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,973,635 (GRCm39) |
D794E |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,900,900 (GRCm39) |
V1107I |
probably damaging |
Het |
Vmn1r195 |
T |
C |
13: 22,463,033 (GRCm39) |
Y168H |
probably benign |
Het |
Vmn1r223 |
A |
G |
13: 23,434,060 (GRCm39) |
N218S |
probably damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,800,447 (GRCm39) |
S632C |
probably damaging |
Het |
Vwa3a |
A |
T |
7: 120,375,356 (GRCm39) |
K390I |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,661 (GRCm39) |
C80* |
probably null |
Het |
Zic1 |
A |
T |
9: 91,246,394 (GRCm39) |
I226N |
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 |
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 |
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'- ACCCTCCAGTCATGTATCAGAG -3'
(R):5'- CTTGCCTGATTCATGGTTTTAAGAG -3'
Sequencing Primer
(F):5'- GTCATGTATCAGAGACAATCCTCCTG -3'
(R):5'- CTACATAGTGAGTTCCCGGATAGC -3'
|
Posted On |
2019-06-07 |