Incidental Mutation 'R5455:Ercc3'
| ID |
432740 |
| 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 # |
R5455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
32373357-32403206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32400262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 705
(S705P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025241]
|
| AlphaFold |
P49135 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025241
AA Change: S705P
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: S705P
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
| Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
| Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
| Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
| Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
| Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,818 (GRCm39) |
F61S |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
| Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
| Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
| Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
| Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
| Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
| Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
| Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
probably benign |
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 |
|
R5342:Ercc3
|
UTSW |
18 |
32,378,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TGTTTTACAACTCACAGAGCCCTC -3'
(R):5'- ATGCTCATAGGCGTGTCTGC -3'
Sequencing Primer
(F):5'- ACAGAGCCCTCATCTGATGTG -3'
(R):5'- TGCGTACATGTGCCCAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation