Incidental Mutation 'IGL01807:Pola2'
ID |
155720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pola2
|
Ensembl Gene |
ENSMUSG00000024833 |
Gene Name |
polymerase (DNA directed), alpha 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01807
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5990570-6014230 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 6003187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025752]
[ENSMUST00000165143]
|
AlphaFold |
P33611 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025752
|
SMART Domains |
Protein: ENSMUSP00000025752 Gene: ENSMUSG00000024833
Domain | Start | End | E-Value | Type |
Pfam:Pol_alpha_B_N
|
17 |
243 |
5.4e-17 |
PFAM |
Pfam:DNA_pol_E_B
|
342 |
549 |
9.8e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165143
|
SMART Domains |
Protein: ENSMUSP00000128866 Gene: ENSMUSG00000024833
Domain | Start | End | E-Value | Type |
Pfam:Pol_alpha_B_N
|
15 |
248 |
3.1e-59 |
PFAM |
Pfam:DNA_pol_E_B
|
342 |
549 |
2e-49 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
G |
T |
6: 142,551,640 (GRCm39) |
L1223M |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,330,418 (GRCm39) |
E814G |
possibly damaging |
Het |
Atf1 |
T |
C |
15: 100,149,945 (GRCm39) |
|
probably benign |
Het |
Bco2 |
T |
C |
9: 50,457,158 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,938,032 (GRCm39) |
I2625V |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,654,897 (GRCm39) |
S545P |
probably benign |
Het |
Cacna1i |
T |
A |
15: 80,258,348 (GRCm39) |
I1173N |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,206,616 (GRCm39) |
E210G |
probably benign |
Het |
Ccl2 |
G |
A |
11: 81,926,513 (GRCm39) |
G9D |
possibly damaging |
Het |
Chmp2b |
T |
A |
16: 65,337,091 (GRCm39) |
T189S |
probably benign |
Het |
Col4a1 |
A |
T |
8: 11,297,056 (GRCm39) |
|
probably benign |
Het |
Ecm1 |
A |
G |
3: 95,643,891 (GRCm39) |
S236P |
probably damaging |
Het |
Epha8 |
A |
G |
4: 136,658,993 (GRCm39) |
V887A |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,533,856 (GRCm39) |
M36V |
probably benign |
Het |
Fbxo15 |
T |
A |
18: 84,999,506 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,494,976 (GRCm39) |
I423V |
possibly damaging |
Het |
Ngly1 |
C |
T |
14: 16,290,873 (GRCm38) |
L452F |
probably benign |
Het |
Or52u1 |
T |
A |
7: 104,237,091 (GRCm39) |
W27R |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,936 (GRCm39) |
T166A |
possibly damaging |
Het |
Pak2 |
T |
C |
16: 31,856,097 (GRCm39) |
K247E |
probably damaging |
Het |
Ppp1r9a |
C |
T |
6: 5,158,248 (GRCm39) |
Q1219* |
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,873,566 (GRCm39) |
I625T |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,613,189 (GRCm39) |
T120A |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,134,288 (GRCm39) |
Y252C |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
Smc1b |
T |
A |
15: 84,980,946 (GRCm39) |
D774V |
probably damaging |
Het |
Uba6 |
C |
T |
5: 86,270,270 (GRCm39) |
R838Q |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,084,251 (GRCm39) |
S105P |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,374,729 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
G |
2: 67,345,375 (GRCm39) |
T2539A |
probably benign |
Het |
Zfpm2 |
T |
C |
15: 40,616,452 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pola2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01403:Pola2
|
APN |
19 |
6,009,121 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01704:Pola2
|
APN |
19 |
5,992,047 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02039:Pola2
|
APN |
19 |
5,998,497 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02639:Pola2
|
APN |
19 |
6,003,802 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4403001:Pola2
|
UTSW |
19 |
6,009,074 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0189:Pola2
|
UTSW |
19 |
5,992,370 (GRCm39) |
splice site |
probably benign |
|
R1467:Pola2
|
UTSW |
19 |
5,992,093 (GRCm39) |
nonsense |
probably null |
|
R1467:Pola2
|
UTSW |
19 |
5,992,093 (GRCm39) |
nonsense |
probably null |
|
R1521:Pola2
|
UTSW |
19 |
5,998,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1682:Pola2
|
UTSW |
19 |
6,003,091 (GRCm39) |
critical splice donor site |
probably null |
|
R1806:Pola2
|
UTSW |
19 |
5,993,250 (GRCm39) |
critical splice donor site |
probably null |
|
R1934:Pola2
|
UTSW |
19 |
6,003,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Pola2
|
UTSW |
19 |
6,001,208 (GRCm39) |
missense |
probably benign |
0.01 |
R4833:Pola2
|
UTSW |
19 |
6,003,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Pola2
|
UTSW |
19 |
6,011,198 (GRCm39) |
missense |
probably benign |
0.03 |
R5644:Pola2
|
UTSW |
19 |
6,011,198 (GRCm39) |
missense |
probably benign |
0.03 |
R6192:Pola2
|
UTSW |
19 |
6,003,802 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7509:Pola2
|
UTSW |
19 |
6,011,194 (GRCm39) |
missense |
probably benign |
0.26 |
R8217:Pola2
|
UTSW |
19 |
6,013,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8954:Pola2
|
UTSW |
19 |
5,998,452 (GRCm39) |
missense |
probably damaging |
0.98 |
R9225:Pola2
|
UTSW |
19 |
6,000,492 (GRCm39) |
missense |
probably benign |
0.04 |
R9336:Pola2
|
UTSW |
19 |
5,991,029 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9783:Pola2
|
UTSW |
19 |
5,990,904 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pola2
|
UTSW |
19 |
6,003,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-02-04 |