Incidental Mutation 'IGL00911:Poll'
ID |
29493 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Poll
|
Ensembl Gene |
ENSMUSG00000025218 |
Gene Name |
polymerase (DNA directed), lambda |
Synonyms |
1110003P06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00911
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
45540714-45548970 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 45542040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 422
(T422K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026239]
|
AlphaFold |
Q9QXE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026239
AA Change: T422K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026239 Gene: ENSMUSG00000025218 AA Change: T422K
Domain | Start | End | E-Value | Type |
PDB:2JW5|A
|
35 |
134 |
4e-35 |
PDB |
Blast:BRCT
|
39 |
121 |
5e-32 |
BLAST |
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
POLXc
|
249 |
572 |
2.71e-79 |
SMART |
HhH1
|
295 |
314 |
3.11e-1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
Other mutations in Poll |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01369:Poll
|
APN |
19 |
45,542,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Poll
|
UTSW |
19 |
45,544,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Poll
|
UTSW |
19 |
45,546,309 (GRCm39) |
missense |
probably benign |
0.21 |
R2090:Poll
|
UTSW |
19 |
45,547,277 (GRCm39) |
missense |
probably benign |
0.24 |
R3721:Poll
|
UTSW |
19 |
45,542,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R3938:Poll
|
UTSW |
19 |
45,546,857 (GRCm39) |
unclassified |
probably benign |
|
R4171:Poll
|
UTSW |
19 |
45,544,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:Poll
|
UTSW |
19 |
45,543,563 (GRCm39) |
missense |
probably benign |
0.02 |
R5990:Poll
|
UTSW |
19 |
45,541,594 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6090:Poll
|
UTSW |
19 |
45,544,436 (GRCm39) |
missense |
probably benign |
|
R6433:Poll
|
UTSW |
19 |
45,542,043 (GRCm39) |
missense |
probably benign |
0.00 |
R7023:Poll
|
UTSW |
19 |
45,547,277 (GRCm39) |
missense |
probably benign |
|
R7436:Poll
|
UTSW |
19 |
45,541,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R8221:Poll
|
UTSW |
19 |
45,542,047 (GRCm39) |
missense |
probably damaging |
0.99 |
R8546:Poll
|
UTSW |
19 |
45,546,416 (GRCm39) |
missense |
probably damaging |
0.99 |
R9083:Poll
|
UTSW |
19 |
45,546,317 (GRCm39) |
missense |
probably benign |
0.01 |
R9203:Poll
|
UTSW |
19 |
45,542,091 (GRCm39) |
missense |
probably benign |
0.00 |
R9288:Poll
|
UTSW |
19 |
45,547,281 (GRCm39) |
missense |
probably benign |
0.03 |
R9314:Poll
|
UTSW |
19 |
45,547,091 (GRCm39) |
missense |
probably benign |
|
R9547:Poll
|
UTSW |
19 |
45,546,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-04-17 |