Incidental Mutation 'R0561:Ercc3'
ID |
45904 |
Institutional Source |
Beutler Lab
|
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 # |
R0561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
32373357-32403206 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32378592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025241
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025241]
|
AlphaFold |
P49135 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025241
AA Change: D191G
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025241 Gene: ENSMUSG00000024382 AA Change: D191G
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
G |
12: 88,335,204 (GRCm39) |
D30G |
possibly damaging |
Het |
Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
Nfkb2 |
T |
C |
19: 46,298,301 (GRCm39) |
V535A |
possibly damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
Phrf1 |
T |
C |
7: 140,834,876 (GRCm39) |
V17A |
probably benign |
Het |
Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
Rgs8 |
T |
C |
1: 153,541,668 (GRCm39) |
|
probably null |
Het |
Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,090 (GRCm39) |
E79G |
probably null |
Het |
Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
Tjp3 |
C |
T |
10: 81,109,674 (GRCm39) |
G843D |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGCTGCTGACATGCTGACTTAAC -3'
(R):5'- ATGAACTGAAGCTGTGCTGGGGAC -3'
Sequencing Primer
(F):5'- GACATGCTGACTTAACTTCAGGG -3'
(R):5'- CCAGGAAAACTGAGGTCCTAAGTG -3'
|
Posted On |
2013-06-11 |