Incidental Mutation 'R4197:Rad23b'
| ID |
318588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad23b
|
| Ensembl Gene |
ENSMUSG00000028426 |
| Gene Name |
RAD23 homolog B, nucleotide excision repair protein |
| Synonyms |
mHR23B, 0610007D13Rik |
| MMRRC Submission |
041028-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
55350043-55392237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55385455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 331
(P331S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030134]
|
| AlphaFold |
P54728 |
| PDB Structure |
The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030134
AA Change: P331S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030134
Gene: ENSMUSG00000028426
AA Change: P331S
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
75 |
8.79e-24 |
SMART |
|
low complexity region
|
79 |
143 |
N/A |
INTRINSIC |
|
UBA
|
190 |
227 |
3.1e-11 |
SMART |
|
low complexity region
|
257 |
270 |
N/A |
INTRINSIC |
|
STI1
|
274 |
317 |
3.37e-10 |
SMART |
|
UBA
|
373 |
410 |
6.35e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156263
|
| Meta Mutation Damage Score |
0.3218 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene usually die around the time of birth. Those that survive show growth retardation, eye, reproductive, behavioral, and digestive system abnormalities. They usually die within 1 year of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
| Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
| Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
| Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
| Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
| Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
| Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
| Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
| Other mutations in Rad23b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Rad23b
|
APN |
4 |
55,366,774 (GRCm39) |
splice site |
probably benign |
|
|
IGL01326:Rad23b
|
APN |
4 |
55,383,601 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02398:Rad23b
|
APN |
4 |
55,350,360 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02506:Rad23b
|
APN |
4 |
55,382,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02538:Rad23b
|
APN |
4 |
55,370,457 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Saguaro
|
UTSW |
4 |
55,370,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0278:Rad23b
|
UTSW |
4 |
55,383,575 (GRCm39) |
splice site |
probably null |
|
|
R1846:Rad23b
|
UTSW |
4 |
55,383,637 (GRCm39) |
nonsense |
probably null |
|
|
R2198:Rad23b
|
UTSW |
4 |
55,385,497 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2425:Rad23b
|
UTSW |
4 |
55,385,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3774:Rad23b
|
UTSW |
4 |
55,382,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3781:Rad23b
|
UTSW |
4 |
55,382,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Rad23b
|
UTSW |
4 |
55,370,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6056:Rad23b
|
UTSW |
4 |
55,382,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6067:Rad23b
|
UTSW |
4 |
55,370,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6078:Rad23b
|
UTSW |
4 |
55,370,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6079:Rad23b
|
UTSW |
4 |
55,370,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7426:Rad23b
|
UTSW |
4 |
55,370,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
U15987:Rad23b
|
UTSW |
4 |
55,370,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTTACCTTTCAGAACTGTTGTG -3'
(R):5'- TGGTAGCAGGAGCCACTAG -3'
Sequencing Primer
(F):5'- TATGACTCAGCCATGCCTAAGATG -3'
(R):5'- AGCCACTAGCCCAGGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation