Incidental Mutation 'R6127:Pold1'
| ID |
487446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
044274-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44191545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 147
(Y147C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049343
AA Change: Y147C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: Y147C
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
65 |
108 |
1e-7 |
BLAST |
|
low complexity region
|
212 |
225 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
227 |
279 |
1e-19 |
BLAST |
|
POLBc
|
306 |
763 |
2.53e-161 |
SMART |
|
Blast:POLBc
|
790 |
837 |
1e-18 |
BLAST |
|
Pfam:zf-C4pol
|
1010 |
1080 |
5.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138746
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145956
AA Change: Y147C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644
AA Change: Y147C
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
65 |
108 |
2e-8 |
BLAST |
|
PDB:3IAY|A
|
76 |
151 |
7e-8 |
PDB |
|
SCOP:d1tgoa1
|
117 |
153 |
3e-10 |
SMART |
|
Blast:POLBc
|
130 |
153 |
7e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151793
AA Change: Y147C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: Y147C
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
66 |
108 |
1e-7 |
BLAST |
|
low complexity region
|
212 |
225 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
227 |
279 |
1e-19 |
BLAST |
|
POLBc
|
306 |
763 |
7.8e-164 |
SMART |
|
Blast:POLBc
|
790 |
837 |
1e-18 |
BLAST |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208368
|
| Meta Mutation Damage Score |
0.8537 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 125-kDa catalytic 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. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene have an elevated mutation rate as well as an increased incidence of tumors. Median age for these mice is around 10 months. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003F12Rik |
A |
G |
2: 154,391,509 (GRCm39) |
E92G |
probably damaging |
Het |
| 4931429L15Rik |
T |
A |
9: 46,220,220 (GRCm39) |
D104V |
probably damaging |
Het |
| Actl9 |
T |
C |
17: 33,652,354 (GRCm39) |
V138A |
probably benign |
Het |
| Agl |
T |
A |
3: 116,551,978 (GRCm39) |
I1204F |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,286,356 (GRCm39) |
T1381N |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,435,809 (GRCm39) |
L167W |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,790,838 (GRCm39) |
E189K |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,768,088 (GRCm39) |
D348G |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,335 (GRCm39) |
T726A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,513,624 (GRCm39) |
I2829F |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,457,342 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
G |
5: 84,218,953 (GRCm39) |
K937N |
probably damaging |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,662,122 (GRCm39) |
I350N |
probably damaging |
Het |
| Hagh |
G |
T |
17: 25,079,978 (GRCm39) |
M152I |
probably damaging |
Het |
| Hexd |
T |
C |
11: 121,107,825 (GRCm39) |
V185A |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,789,652 (GRCm39) |
T109A |
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,530,001 (GRCm39) |
Y702H |
probably damaging |
Het |
| Leng1 |
G |
A |
7: 3,665,866 (GRCm39) |
P157L |
probably damaging |
Het |
| Maea |
C |
T |
5: 33,492,862 (GRCm39) |
|
probably benign |
Het |
| Mertk |
G |
T |
2: 128,580,211 (GRCm39) |
V222F |
probably damaging |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Muc13 |
G |
A |
16: 33,619,317 (GRCm39) |
A22T |
unknown |
Het |
| Muc16 |
T |
A |
9: 18,569,174 (GRCm39) |
H1115L |
unknown |
Het |
| Or2y1d |
C |
A |
11: 49,321,633 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5ae2 |
T |
A |
7: 84,506,410 (GRCm39) |
L278M |
probably damaging |
Het |
| Or5l13 |
T |
A |
2: 87,779,705 (GRCm39) |
S291C |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,284 (GRCm39) |
Y288H |
probably damaging |
Het |
| Pak5 |
G |
A |
2: 135,929,326 (GRCm39) |
P619L |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,500 (GRCm39) |
K993E |
probably damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,807,757 (GRCm39) |
Q70L |
probably damaging |
Het |
| Pcdhgb5 |
C |
A |
18: 37,865,932 (GRCm39) |
R576S |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,614,555 (GRCm39) |
L1369P |
unknown |
Het |
| Psg29 |
T |
A |
7: 16,945,671 (GRCm39) |
F414I |
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,419,534 (GRCm39) |
S526I |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Setd7 |
G |
A |
3: 51,437,502 (GRCm39) |
T251I |
probably damaging |
Het |
| Slc25a41 |
T |
A |
17: 57,341,914 (GRCm39) |
Y145F |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,833,750 (GRCm39) |
V1121A |
probably benign |
Het |
| Svip |
T |
C |
7: 51,653,201 (GRCm39) |
T38A |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,227,845 (GRCm39) |
H1510L |
possibly damaging |
Het |
| Trav19 |
A |
G |
14: 54,082,999 (GRCm39) |
T25A |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,773,752 (GRCm39) |
|
probably null |
Het |
| Tulp1 |
T |
A |
17: 28,575,124 (GRCm39) |
H447L |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,373 (GRCm39) |
T59S |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,839,558 (GRCm39) |
L10H |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,426,701 (GRCm39) |
Y157H |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,542 (GRCm39) |
S187P |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Pold1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Pold1
|
APN |
7 |
44,192,656 (GRCm39) |
splice site |
probably benign |
|
|
IGL01626:Pold1
|
APN |
7 |
44,182,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01635:Pold1
|
APN |
7 |
44,185,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Pold1
|
APN |
7 |
44,187,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Pold1
|
APN |
7 |
44,191,663 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02579:Pold1
|
APN |
7 |
44,192,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Pold1
|
APN |
7 |
44,190,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Pold1
|
APN |
7 |
44,188,824 (GRCm39) |
missense |
probably benign |
0.17 |
|
PIT4243001:Pold1
|
UTSW |
7 |
44,191,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4431001:Pold1
|
UTSW |
7 |
44,188,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Pold1
|
UTSW |
7 |
44,191,139 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0266:Pold1
|
UTSW |
7 |
44,190,449 (GRCm39) |
splice site |
probably benign |
|
|
R0537:Pold1
|
UTSW |
7 |
44,184,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Pold1
|
UTSW |
7 |
44,184,475 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1348:Pold1
|
UTSW |
7 |
44,184,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1376:Pold1
|
UTSW |
7 |
44,189,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1376:Pold1
|
UTSW |
7 |
44,189,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Pold1
|
UTSW |
7 |
44,192,181 (GRCm39) |
splice site |
probably benign |
|
|
R2156:Pold1
|
UTSW |
7 |
44,188,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Pold1
|
UTSW |
7 |
44,183,223 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2259:Pold1
|
UTSW |
7 |
44,190,908 (GRCm39) |
splice site |
probably benign |
|
|
R2870:Pold1
|
UTSW |
7 |
44,192,771 (GRCm39) |
synonymous |
silent |
|
|
R3793:Pold1
|
UTSW |
7 |
44,190,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4493:Pold1
|
UTSW |
7 |
44,187,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Pold1
|
UTSW |
7 |
44,188,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4661:Pold1
|
UTSW |
7 |
44,182,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4738:Pold1
|
UTSW |
7 |
44,190,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4769:Pold1
|
UTSW |
7 |
44,184,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Pold1
|
UTSW |
7 |
44,191,325 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5009:Pold1
|
UTSW |
7 |
44,183,326 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5150:Pold1
|
UTSW |
7 |
44,185,256 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5534:Pold1
|
UTSW |
7 |
44,188,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Pold1
|
UTSW |
7 |
44,190,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Pold1
|
UTSW |
7 |
44,187,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Pold1
|
UTSW |
7 |
44,190,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6435:Pold1
|
UTSW |
7 |
44,188,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6436:Pold1
|
UTSW |
7 |
44,188,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Pold1
|
UTSW |
7 |
44,188,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Pold1
|
UTSW |
7 |
44,191,630 (GRCm39) |
missense |
probably benign |
|
|
R7049:Pold1
|
UTSW |
7 |
44,190,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7158:Pold1
|
UTSW |
7 |
44,188,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Pold1
|
UTSW |
7 |
44,191,572 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7235:Pold1
|
UTSW |
7 |
44,191,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7372:Pold1
|
UTSW |
7 |
44,192,847 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7511:Pold1
|
UTSW |
7 |
44,191,614 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7797:Pold1
|
UTSW |
7 |
44,191,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9037:Pold1
|
UTSW |
7 |
44,188,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Pold1
|
UTSW |
7 |
44,191,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pold1
|
UTSW |
7 |
44,191,656 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pold1
|
UTSW |
7 |
44,191,204 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Pold1
|
UTSW |
7 |
44,191,382 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCTCTATTGCCAGCACTG -3'
(R):5'- CAGTGACATCCTTCAGTGTGG -3'
Sequencing Primer
(F):5'- TGAGAGCTCCTTCCCACCG -3'
(R):5'- TTCAGTGTGGCCTCCGGTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation