Incidental Mutation 'R0736:Polm'
| ID |
67299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polm
|
| Ensembl Gene |
ENSMUSG00000020474 |
| Gene Name |
polymerase (DNA directed), mu |
| Synonyms |
Tdt-N, B230309I03Rik |
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0736 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5777860-5788016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 5785495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 188
(S188C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020767]
[ENSMUST00000109837]
|
| AlphaFold |
Q9JIW4 |
| PDB Structure |
Polymerase mu in ternary complex with gapped 11mer DNA duplex and bound incoming nucleotide [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020767
AA Change: S188C
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020767
Gene: ENSMUSG00000020474
AA Change: S188C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
PDB:2HTF|A
|
27 |
124 |
2e-42 |
PDB |
|
POLXc
|
150 |
495 |
1.78e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109837
AA Change: S188C
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105463
Gene: ENSMUSG00000020474
AA Change: S188C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
Blast:BRCT
|
27 |
112 |
1e-45 |
BLAST |
|
PDB:2HTF|A
|
27 |
124 |
4e-42 |
PDB |
|
POLXc
|
150 |
500 |
8.68e-78 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156913
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, B cell maturation and proliferation is abnormal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Calb1 |
G |
A |
4: 15,898,917 (GRCm39) |
V138M |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,051,659 (GRCm39) |
V1231A |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,207 (GRCm39) |
N327D |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pgc |
T |
A |
17: 48,039,705 (GRCm39) |
M33K |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Slfn1 |
A |
T |
11: 83,011,907 (GRCm39) |
T8S |
probably benign |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zbtb17 |
C |
A |
4: 141,189,097 (GRCm39) |
H6N |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
probably benign |
Het |
|
| Other mutations in Polm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02184:Polm
|
APN |
11 |
5,780,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
gott
|
UTSW |
11 |
5,779,512 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
lobet
|
UTSW |
11 |
5,779,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Polm
|
UTSW |
11 |
5,786,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0626:Polm
|
UTSW |
11 |
5,786,207 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1723:Polm
|
UTSW |
11 |
5,784,776 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1893:Polm
|
UTSW |
11 |
5,785,574 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2473:Polm
|
UTSW |
11 |
5,779,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3812:Polm
|
UTSW |
11 |
5,779,512 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4676:Polm
|
UTSW |
11 |
5,785,749 (GRCm39) |
nonsense |
probably null |
|
|
R4705:Polm
|
UTSW |
11 |
5,787,663 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4988:Polm
|
UTSW |
11 |
5,787,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5276:Polm
|
UTSW |
11 |
5,779,393 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6401:Polm
|
UTSW |
11 |
5,779,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Polm
|
UTSW |
11 |
5,785,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Polm
|
UTSW |
11 |
5,781,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7961:Polm
|
UTSW |
11 |
5,780,155 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8151:Polm
|
UTSW |
11 |
5,787,906 (GRCm39) |
unclassified |
probably benign |
|
|
R8184:Polm
|
UTSW |
11 |
5,781,707 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9108:Polm
|
UTSW |
11 |
5,779,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9283:Polm
|
UTSW |
11 |
5,779,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9430:Polm
|
UTSW |
11 |
5,784,749 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9570:Polm
|
UTSW |
11 |
5,779,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9651:Polm
|
UTSW |
11 |
5,781,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Polm
|
UTSW |
11 |
5,780,158 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCAAGTCTCCTGCTATTCCACC -3'
(R):5'- TCGATGCCAGCTTATGCCTGTC -3'
Sequencing Primer
(F):5'- GACAAGCACCTACCTGGATT -3'
(R):5'- TTCGAAGCCAACGAGGG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation