Incidental Mutation 'IGL01108:Ercc3'
| ID |
53180 |
| 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 # |
IGL01108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
32373357-32403206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32397638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 623
(V623A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025241]
|
| AlphaFold |
P49135 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025241
AA Change: V623A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: V623A
| 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: ENSMUST00000129023
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
A |
G |
19: 31,986,081 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,516 (GRCm39) |
I856T |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,867,814 (GRCm39) |
|
probably null |
Het |
| Cpq |
A |
G |
15: 33,497,433 (GRCm39) |
Q391R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,740,806 (GRCm39) |
T4127S |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,176,771 (GRCm39) |
S63P |
possibly damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,792,606 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
A |
2: 70,508,922 (GRCm39) |
S133R |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,461,922 (GRCm39) |
A307T |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,132,487 (GRCm39) |
K186R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,903 (GRCm39) |
E596G |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,659 (GRCm39) |
I188V |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,257,754 (GRCm39) |
M492K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,835,563 (GRCm39) |
T545A |
probably damaging |
Het |
| Mgrn1 |
G |
T |
16: 4,734,019 (GRCm39) |
|
probably null |
Het |
| Mideas |
T |
C |
12: 84,220,465 (GRCm39) |
E163G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,339 (GRCm39) |
V529A |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,825,727 (GRCm39) |
T110I |
probably damaging |
Het |
| Parp4 |
T |
G |
14: 56,844,897 (GRCm39) |
I596S |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,703,355 (GRCm39) |
D43V |
probably damaging |
Het |
| Prss51 |
A |
T |
14: 64,333,433 (GRCm39) |
K14I |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,278 (GRCm39) |
C133R |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,788,007 (GRCm39) |
N437K |
probably benign |
Het |
| Samd10 |
A |
G |
2: 181,239,007 (GRCm39) |
Y135H |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Serpina7 |
C |
T |
X: 137,983,886 (GRCm39) |
V58I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,273,594 (GRCm39) |
|
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Urb1 |
C |
T |
16: 90,589,702 (GRCm39) |
A360T |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,595,022 (GRCm39) |
R3818L |
probably benign |
Het |
| Vmn2r57 |
C |
T |
7: 41,077,008 (GRCm39) |
R386K |
probably benign |
Het |
| Wnt3a |
T |
C |
11: 59,147,135 (GRCm39) |
N184D |
probably benign |
Het |
| Xpc |
G |
A |
6: 91,469,987 (GRCm39) |
R746W |
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 |
|
|
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 |
|
IGL02862:Ercc3
|
APN |
18 |
32,376,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2013-06-21 |
Incidental Mutation