Incidental Mutation 'R5342:Ercc3'
| ID |
422414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ercc3
|
| Ensembl Gene |
ENSMUSG00000024382 |
| Gene Name |
excision repair cross-complementing rodent repair deficiency, complementation group 3 |
| Synonyms |
XPB |
| MMRRC Submission |
042921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5342 (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 32378648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 210
(I210V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025241]
|
| AlphaFold |
P49135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025241
AA Change: I210V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: I210V
| 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: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
| Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
| Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
| Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
| Eci2 |
C |
T |
13: 35,162,707 (GRCm39) |
E283K |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,253,639 (GRCm39) |
|
probably null |
Het |
| Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
| Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
| Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
| Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
| Morc1 |
G |
T |
16: 48,438,872 (GRCm39) |
G756W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
| Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,237,503 (GRCm39) |
L9P |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
| Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
| Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
| Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
| Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
| Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
| Unc5b |
T |
A |
10: 60,614,046 (GRCm39) |
K268* |
probably null |
Het |
| Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
| Zfp160 |
T |
G |
17: 21,240,995 (GRCm39) |
M21R |
possibly 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 |
|
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 |
|
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'- CTCTGATTTGACAAAGGTGTGG -3'
(R):5'- GCCGCCGTCTTAGAAATCTG -3'
Sequencing Primer
(F):5'- CGAGGCTGTAATTTTCAGATCACC -3'
(R):5'- CGCCGTCTTAGAAATCTGTGAGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation