Incidental Mutation 'R2194:Polb'
| ID |
238294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polb
|
| Ensembl Gene |
ENSMUSG00000031536 |
| Gene Name |
polymerase (DNA directed), beta |
| Synonyms |
A430088C08Rik, Pol beta |
| MMRRC Submission |
040196-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2194 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
23118142-23143451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23137483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 89
(R89H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033938]
[ENSMUST00000210950]
|
| AlphaFold |
Q8K409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033938
AA Change: R89H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: R89H
| Domain | Start | End | E-Value | Type |
|---|
|
POLXc
|
10 |
334 |
4.58e-159 |
SMART |
|
HhH1
|
57 |
76 |
1.91e-1 |
SMART |
|
HhH1
|
98 |
117 |
1.14e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210950
AA Change: R89H
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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 a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for one knock-out allele die from E10.5 to birth and those for another one exhibit embryonic growth retardation, abnormal neurogenesis, and neonatal lethality due to respiratory failure. Hypomorphic allele mice develop systemic lupus erythematosus-like phentoypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh2 |
T |
C |
18: 16,773,505 (GRCm39) |
T275A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,657,001 (GRCm39) |
D72G |
probably benign |
Het |
| Gm8104 |
T |
C |
14: 42,959,017 (GRCm39) |
M69T |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,740,909 (GRCm39) |
E1391G |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,977,521 (GRCm39) |
N183S |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,425,347 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,116 (GRCm39) |
D768G |
probably benign |
Het |
| Kitl |
T |
G |
10: 99,851,899 (GRCm39) |
|
probably null |
Het |
| Mfsd4b4 |
T |
A |
10: 39,768,919 (GRCm39) |
N104I |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2t49 |
T |
C |
11: 58,392,468 (GRCm39) |
K305E |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,788 (GRCm39) |
V366A |
probably damaging |
Het |
| Rfc4 |
TTTGTTGTTGTTG |
TTTGTTGTTG |
16: 22,932,902 (GRCm39) |
|
probably benign |
Het |
| Rnf40 |
C |
A |
7: 127,196,407 (GRCm39) |
A785D |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,942,718 (GRCm39) |
E494G |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,409 (GRCm39) |
E1112G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,805 (GRCm39) |
E625G |
possibly damaging |
Het |
|
| Other mutations in Polb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Polb
|
APN |
8 |
23,143,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:Polb
|
APN |
8 |
23,130,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02618:Polb
|
APN |
8 |
23,127,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Polb
|
APN |
8 |
23,138,277 (GRCm39) |
splice site |
probably benign |
|
|
IGL03143:Polb
|
APN |
8 |
23,130,367 (GRCm39) |
splice site |
probably benign |
|
|
IGL02796:Polb
|
UTSW |
8 |
23,121,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0280:Polb
|
UTSW |
8 |
23,130,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0383:Polb
|
UTSW |
8 |
23,130,011 (GRCm39) |
nonsense |
probably null |
|
|
R0788:Polb
|
UTSW |
8 |
23,132,354 (GRCm39) |
missense |
probably null |
|
|
R1374:Polb
|
UTSW |
8 |
23,143,073 (GRCm39) |
splice site |
probably benign |
|
|
R1564:Polb
|
UTSW |
8 |
23,120,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2295:Polb
|
UTSW |
8 |
23,143,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Polb
|
UTSW |
8 |
23,130,018 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4992:Polb
|
UTSW |
8 |
23,135,087 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5107:Polb
|
UTSW |
8 |
23,135,062 (GRCm39) |
splice site |
probably null |
|
|
R5474:Polb
|
UTSW |
8 |
23,120,386 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5905:Polb
|
UTSW |
8 |
23,130,011 (GRCm39) |
nonsense |
probably null |
|
|
R5908:Polb
|
UTSW |
8 |
23,132,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6028:Polb
|
UTSW |
8 |
23,130,011 (GRCm39) |
nonsense |
probably null |
|
|
R6188:Polb
|
UTSW |
8 |
23,137,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7304:Polb
|
UTSW |
8 |
23,129,975 (GRCm39) |
missense |
probably benign |
|
|
R7644:Polb
|
UTSW |
8 |
23,130,443 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7766:Polb
|
UTSW |
8 |
23,143,107 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8964:Polb
|
UTSW |
8 |
23,143,341 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9249:Polb
|
UTSW |
8 |
23,143,084 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9681:Polb
|
UTSW |
8 |
23,118,346 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCAAGTAAGTACTGGAGTG -3'
(R):5'- GAGATGAGAAGTCTGTAGCTACTCTG -3'
Sequencing Primer
(F):5'- TGAGAGCTGACATTGGGAGG -3'
(R):5'- GAAGTCTGTAGCTACTCTGTTACTAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation