Incidental Mutation 'IGL00469:Pola1'
| ID |
3110 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pola1
|
| Ensembl Gene |
ENSMUSG00000006678 |
| Gene Name |
polymerase (DNA directed), alpha 1 |
| Synonyms |
Pola |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL00469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
92348373-92675761 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92638391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 459
(V459I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006856]
|
| AlphaFold |
P33609 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006856
AA Change: V459I
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006856
Gene: ENSMUSG00000006678
AA Change: V459I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
Pfam:DNA_pol_alpha_N
|
41 |
102 |
5.5e-22 |
PFAM |
|
Blast:POLBc
|
136 |
508 |
1e-152 |
BLAST |
|
POLBc
|
539 |
1016 |
2.07e-134 |
SMART |
|
low complexity region
|
1051 |
1058 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
1098 |
1187 |
4e-47 |
BLAST |
|
Pfam:zf-DNA_Pol
|
1269 |
1458 |
4.5e-52 |
PFAM |
|
| 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 the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d4 |
A |
G |
6: 119,245,239 (GRCm39) |
I316V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,170 (GRCm39) |
S225G |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
A |
14: 51,029,556 (GRCm39) |
R169C |
probably damaging |
Het |
| Crip1 |
G |
T |
12: 113,115,755 (GRCm39) |
D59Y |
probably damaging |
Het |
| Cstf2 |
T |
A |
X: 132,974,905 (GRCm39) |
H354Q |
probably damaging |
Het |
| Dcaf8l |
C |
A |
X: 88,449,944 (GRCm39) |
V62F |
possibly damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,468 (GRCm39) |
D2691E |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,179,603 (GRCm39) |
|
probably benign |
Het |
| Fam199x |
T |
C |
X: 135,972,860 (GRCm39) |
I222T |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,540,415 (GRCm39) |
L758Q |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,532,965 (GRCm39) |
L181R |
possibly damaging |
Het |
| Gpr158 |
G |
T |
2: 21,751,606 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,716 (GRCm39) |
Q43L |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,711,011 (GRCm39) |
W390R |
probably damaging |
Het |
| Prss44 |
T |
C |
9: 110,644,557 (GRCm39) |
S222P |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,318,312 (GRCm39) |
N1593S |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,309,318 (GRCm39) |
I671T |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,044,275 (GRCm39) |
I509T |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,282,273 (GRCm39) |
Q768R |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Pola1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00469:Pola1
|
APN |
X |
92,604,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00946:Pola1
|
APN |
X |
92,524,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0606:Pola1
|
UTSW |
X |
92,531,693 (GRCm39) |
splice site |
probably benign |
|
|
R1955:Pola1
|
UTSW |
X |
92,640,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3918:Pola1
|
UTSW |
X |
92,505,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3919:Pola1
|
UTSW |
X |
92,505,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4402:Pola1
|
UTSW |
X |
92,605,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Pola1
|
UTSW |
X |
92,524,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation