Incidental Mutation 'R4354:Pold3'
| ID |
327451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold3
|
| Ensembl Gene |
ENSMUSG00000030726 |
| Gene Name |
polymerase (DNA-directed), delta 3, accessory subunit |
| Synonyms |
GC12, 2410142G14Rik, P68, P66, C85233 |
| MMRRC Submission |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99731317-99770709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99749824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 47
(K47E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032969]
[ENSMUST00000127128]
[ENSMUST00000156202]
[ENSMUST00000208184]
[ENSMUST00000208670]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032969
AA Change: K153E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: K153E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC27
|
19 |
461 |
1.6e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129556
|
| Predicted Effect |
silent
Transcript: ENSMUST00000156202
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208184
AA Change: K47E
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208670
AA Change: K114E
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208704
|
| Meta Mutation Damage Score |
0.0706 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,143,710 (GRCm39) |
C83Y |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,404 (GRCm39) |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,529,855 (GRCm39) |
L14Q |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,952,279 (GRCm39) |
T216I |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,797,257 (GRCm39) |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
probably benign |
Het |
|
| Other mutations in Pold3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01891:Pold3
|
APN |
7 |
99,737,352 (GRCm39) |
splice site |
probably benign |
|
|
IGL02101:Pold3
|
APN |
7 |
99,749,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02402:Pold3
|
APN |
7 |
99,749,618 (GRCm39) |
splice site |
probably benign |
|
|
IGL02541:Pold3
|
APN |
7 |
99,732,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Pold3
|
APN |
7 |
99,745,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Pold3
|
UTSW |
7 |
99,770,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Pold3
|
UTSW |
7 |
99,768,890 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1956:Pold3
|
UTSW |
7 |
99,737,318 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2508:Pold3
|
UTSW |
7 |
99,770,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Pold3
|
UTSW |
7 |
99,770,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4135:Pold3
|
UTSW |
7 |
99,749,854 (GRCm39) |
nonsense |
probably null |
|
|
R5038:Pold3
|
UTSW |
7 |
99,770,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Pold3
|
UTSW |
7 |
99,749,819 (GRCm39) |
nonsense |
probably null |
|
|
R6118:Pold3
|
UTSW |
7 |
99,745,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6338:Pold3
|
UTSW |
7 |
99,737,312 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6466:Pold3
|
UTSW |
7 |
99,749,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7000:Pold3
|
UTSW |
7 |
99,755,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Pold3
|
UTSW |
7 |
99,761,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Pold3
|
UTSW |
7 |
99,738,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9377:Pold3
|
UTSW |
7 |
99,732,993 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGGTTACTTCTCGGGC -3'
(R):5'- GCCTAGTTCTTTACCCAAATGGAG -3'
Sequencing Primer
(F):5'- ACTTCTCGGGCCTCTGG -3'
(R):5'- ACCCAAATGGAGTTTTATAGCAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation