Incidental Mutation 'IGL02862:Ercc3'
ID |
362208 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ercc3
|
Ensembl Gene |
ENSMUSG00000024382 |
Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 3 |
Synonyms |
XPB |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02862
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
32373357-32403206 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 32376255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025241
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025241]
[ENSMUST00000025241]
[ENSMUST00000025241]
|
AlphaFold |
P49135 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025241
|
SMART Domains |
Protein: ENSMUSP00000025241 Gene: ENSMUSG00000024382
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
Pfam:Helicase_C_3
|
76 |
203 |
1.2e-46 |
PFAM |
DEXDc
|
313 |
493 |
2.52e-18 |
SMART |
HELICc
|
570 |
648 |
4.32e-8 |
SMART |
low complexity region
|
707 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000025241
|
SMART Domains |
Protein: ENSMUSP00000025241 Gene: ENSMUSG00000024382
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
Pfam:Helicase_C_3
|
76 |
203 |
1.2e-46 |
PFAM |
DEXDc
|
313 |
493 |
2.52e-18 |
SMART |
HELICc
|
570 |
648 |
4.32e-8 |
SMART |
low complexity region
|
707 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000025241
|
SMART Domains |
Protein: ENSMUSP00000025241 Gene: ENSMUSG00000024382
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
Pfam:Helicase_C_3
|
76 |
203 |
1.2e-46 |
PFAM |
DEXDc
|
313 |
493 |
2.52e-18 |
SMART |
HELICc
|
570 |
648 |
4.32e-8 |
SMART |
low complexity region
|
707 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142213
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] PHENOTYPE: Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
G |
7: 28,611,659 (GRCm39) |
|
probably benign |
Het |
Adhfe1 |
T |
C |
1: 9,624,036 (GRCm39) |
L170P |
probably damaging |
Het |
Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
Akr1e1 |
T |
C |
13: 4,659,092 (GRCm39) |
T11A |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,347,306 (GRCm39) |
E668G |
probably damaging |
Het |
Ccdc163 |
G |
A |
4: 116,569,910 (GRCm39) |
|
probably null |
Het |
Egfr |
A |
T |
11: 16,833,562 (GRCm39) |
Y610F |
probably benign |
Het |
Fasn |
G |
T |
11: 120,709,805 (GRCm39) |
H417Q |
possibly damaging |
Het |
Gjd2 |
A |
G |
2: 113,843,624 (GRCm39) |
|
probably benign |
Het |
Grip2 |
C |
T |
6: 91,765,085 (GRCm39) |
R59H |
probably damaging |
Het |
H2bc11 |
C |
T |
13: 22,227,515 (GRCm39) |
S39L |
possibly damaging |
Het |
Ighv1-43 |
A |
G |
12: 114,909,859 (GRCm39) |
V21A |
probably damaging |
Het |
Ltbp1 |
G |
A |
17: 75,697,466 (GRCm39) |
G1368D |
probably damaging |
Het |
Mogs |
G |
T |
6: 83,092,871 (GRCm39) |
G104C |
probably damaging |
Het |
Nfix |
T |
A |
8: 85,440,475 (GRCm39) |
T472S |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,877,648 (GRCm39) |
V274A |
probably benign |
Het |
Ovch2 |
A |
T |
7: 107,394,138 (GRCm39) |
V105E |
probably damaging |
Het |
Pex1 |
G |
T |
5: 3,655,424 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Prl7a1 |
T |
C |
13: 27,823,872 (GRCm39) |
T70A |
probably benign |
Het |
Shmt2 |
C |
T |
10: 127,354,743 (GRCm39) |
R311Q |
probably benign |
Het |
St3gal4 |
A |
G |
9: 34,963,543 (GRCm39) |
I255T |
probably benign |
Het |
Taf8 |
C |
T |
17: 47,805,339 (GRCm39) |
A187T |
probably damaging |
Het |
Tm6sf1 |
T |
A |
7: 81,520,504 (GRCm39) |
V62D |
probably damaging |
Het |
Trpm5 |
A |
T |
7: 142,636,262 (GRCm39) |
W537R |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,831,867 (GRCm39) |
L621H |
probably damaging |
Het |
|
Other mutations in Ercc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Ercc3
|
APN |
18 |
32,397,598 (GRCm39) |
splice site |
probably benign |
|
IGL01108:Ercc3
|
APN |
18 |
32,397,638 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01131:Ercc3
|
APN |
18 |
32,402,942 (GRCm39) |
makesense |
probably null |
|
IGL01541:Ercc3
|
APN |
18 |
32,381,372 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01959:Ercc3
|
APN |
18 |
32,390,411 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03107:Ercc3
|
APN |
18 |
32,381,360 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03334:Ercc3
|
APN |
18 |
32,373,890 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4651001:Ercc3
|
UTSW |
18 |
32,373,365 (GRCm39) |
unclassified |
probably benign |
|
R0545:Ercc3
|
UTSW |
18 |
32,378,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0561:Ercc3
|
UTSW |
18 |
32,378,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1159:Ercc3
|
UTSW |
18 |
32,397,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1496:Ercc3
|
UTSW |
18 |
32,394,350 (GRCm39) |
splice site |
probably benign |
|
R1733:Ercc3
|
UTSW |
18 |
32,400,218 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1943:Ercc3
|
UTSW |
18 |
32,379,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Ercc3
|
UTSW |
18 |
32,381,482 (GRCm39) |
missense |
probably benign |
|
R2015:Ercc3
|
UTSW |
18 |
32,381,482 (GRCm39) |
missense |
probably benign |
|
R2303:Ercc3
|
UTSW |
18 |
32,378,600 (GRCm39) |
missense |
probably benign |
0.08 |
R4393:Ercc3
|
UTSW |
18 |
32,398,674 (GRCm39) |
missense |
probably benign |
0.00 |
R4600:Ercc3
|
UTSW |
18 |
32,378,624 (GRCm39) |
missense |
probably benign |
0.00 |
R4601:Ercc3
|
UTSW |
18 |
32,378,624 (GRCm39) |
missense |
probably benign |
0.00 |
R4602:Ercc3
|
UTSW |
18 |
32,378,624 (GRCm39) |
missense |
probably benign |
0.00 |
R4603:Ercc3
|
UTSW |
18 |
32,378,624 (GRCm39) |
missense |
probably benign |
0.00 |
R4796:Ercc3
|
UTSW |
18 |
32,381,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Ercc3
|
UTSW |
18 |
32,376,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R5253:Ercc3
|
UTSW |
18 |
32,402,917 (GRCm39) |
missense |
probably damaging |
0.97 |
R5265:Ercc3
|
UTSW |
18 |
32,387,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R5342:Ercc3
|
UTSW |
18 |
32,378,648 (GRCm39) |
missense |
probably benign |
0.01 |
R5455:Ercc3
|
UTSW |
18 |
32,400,262 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5639:Ercc3
|
UTSW |
18 |
32,398,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R5702:Ercc3
|
UTSW |
18 |
32,387,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R6026:Ercc3
|
UTSW |
18 |
32,378,974 (GRCm39) |
critical splice donor site |
probably null |
|
R6053:Ercc3
|
UTSW |
18 |
32,379,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R6650:Ercc3
|
UTSW |
18 |
32,394,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R7150:Ercc3
|
UTSW |
18 |
32,390,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R7783:Ercc3
|
UTSW |
18 |
32,381,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R8331:Ercc3
|
UTSW |
18 |
32,373,871 (GRCm39) |
missense |
probably damaging |
0.97 |
R8905:Ercc3
|
UTSW |
18 |
32,398,771 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Ercc3
|
UTSW |
18 |
32,387,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |