Incidental Mutation 'R3812:Polm'
| ID |
274110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polm
|
| Ensembl Gene |
ENSMUSG00000020474 |
| Gene Name |
polymerase (DNA directed), mu |
| Synonyms |
Tdt-N, B230309I03Rik |
| MMRRC Submission |
040768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3812 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5777860-5788016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5779512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 429
(F429L)
|
| 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: F429L
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020767
Gene: ENSMUSG00000020474
AA Change: F429L
| 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: F429L
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105463
Gene: ENSMUSG00000020474
AA Change: F429L
| 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: ENSMUST00000143478
|
| Meta Mutation Damage Score |
0.1965 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (28/28) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,407,469 (GRCm39) |
M1082V |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,423,706 (GRCm39) |
S137P |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,151 (GRCm39) |
I45V |
probably benign |
Het |
| Fbxw28 |
C |
A |
9: 109,167,598 (GRCm39) |
C53F |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Lcmt2 |
G |
A |
2: 120,969,187 (GRCm39) |
A632V |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,543,284 (GRCm39) |
N180S |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,149,118 (GRCm39) |
W242R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,735,332 (GRCm39) |
Y151H |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,216,067 (GRCm39) |
T105A |
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,675,000 (GRCm39) |
C449S |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,517 (GRCm39) |
F2820Y |
possibly damaging |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,717 (GRCm39) |
S40P |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,810,326 (GRCm39) |
L906Q |
probably damaging |
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 |
|
R0736:Polm
|
UTSW |
11 |
5,785,495 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- AGGATCAAACAGCCCATGG -3'
(R):5'- TCCTGTATCACCAGTACCACCG -3'
Sequencing Primer
(F):5'- GCTTCCTTTAGCAGGGTT -3'
(R):5'- GTACCACCGCAGCCATTTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation