Incidental Mutation 'IGL01812:Polh'
| ID |
154287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polh
|
| Ensembl Gene |
ENSMUSG00000023953 |
| Gene Name |
polymerase (DNA directed), eta (RAD 30 related) |
| Synonyms |
RAD30A |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
IGL01812
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46482281-46513567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46483837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 476
(A476V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024748]
[ENSMUST00000024749]
[ENSMUST00000169383]
[ENSMUST00000172170]
|
| AlphaFold |
Q9JJN0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024748
|
| SMART Domains |
Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
57 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
172 |
412 |
4.2e-27 |
PFAM |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU_D3
|
499 |
589 |
8.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024749
AA Change: A476V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: A476V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
12 |
227 |
9.7e-53 |
PFAM |
|
Pfam:IMS_C
|
308 |
435 |
5.8e-15 |
PFAM |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
561 |
N/A |
INTRINSIC |
|
PDB:2I5O|A
|
606 |
643 |
7e-15 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166701
|
| SMART Domains |
Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169383
|
| SMART Domains |
Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172170
|
| SMART Domains |
Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
57 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
172 |
411 |
9.4e-27 |
PFAM |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
| 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 member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes increased susceptibility to UV-induced skin tumors and results in reduced immunoglobulin gene mutations at A-T base pairs with a G-C biased mutation pattern. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,749,950 (GRCm39) |
Y1456C |
probably damaging |
Het |
| Apobr |
A |
G |
7: 126,187,094 (GRCm39) |
D840G |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 77,909,966 (GRCm39) |
L27* |
probably null |
Het |
| Cd300lf |
T |
C |
11: 115,011,114 (GRCm39) |
R175G |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,924,468 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cngb3 |
T |
G |
4: 19,461,728 (GRCm39) |
I536M |
possibly damaging |
Het |
| Cracdl |
T |
A |
1: 37,664,446 (GRCm39) |
D484V |
probably benign |
Het |
| Cyp4f15 |
G |
A |
17: 32,905,131 (GRCm39) |
R38H |
probably benign |
Het |
| Ddb1 |
A |
C |
19: 10,590,382 (GRCm39) |
E303A |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,217,519 (GRCm39) |
E822V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,419,608 (GRCm39) |
V234A |
possibly damaging |
Het |
| Evi5l |
T |
C |
8: 4,243,219 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
C |
6: 33,734,894 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,242,007 (GRCm39) |
I62V |
probably benign |
Het |
| Itpkb |
T |
C |
1: 180,247,851 (GRCm39) |
F823S |
probably damaging |
Het |
| Izumo2 |
A |
G |
7: 44,358,519 (GRCm39) |
N14S |
possibly damaging |
Het |
| Matcap1 |
C |
T |
8: 106,011,289 (GRCm39) |
|
probably benign |
Het |
| Nbas |
T |
C |
12: 13,503,504 (GRCm39) |
C1545R |
probably damaging |
Het |
| Or4c108 |
A |
T |
2: 88,803,868 (GRCm39) |
Y122* |
probably null |
Het |
| Pds5b |
A |
T |
5: 150,704,154 (GRCm39) |
R852S |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 16,981,141 (GRCm39) |
D99E |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,065 (GRCm39) |
V1661A |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,935,285 (GRCm39) |
S7G |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,692,424 (GRCm39) |
V830A |
probably benign |
Het |
| Vps39 |
G |
A |
2: 120,151,271 (GRCm39) |
|
probably benign |
Het |
| Zdhhc17 |
T |
A |
10: 110,784,078 (GRCm39) |
H466L |
possibly damaging |
Het |
|
| Other mutations in Polh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Polh
|
APN |
17 |
46,483,169 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00585:Polh
|
APN |
17 |
46,483,169 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01996:Polh
|
APN |
17 |
46,483,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02578:Polh
|
APN |
17 |
46,505,218 (GRCm39) |
nonsense |
probably null |
|
|
IGL02829:Polh
|
APN |
17 |
46,483,828 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03003:Polh
|
APN |
17 |
46,505,292 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1435:Polh
|
UTSW |
17 |
46,505,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Polh
|
UTSW |
17 |
46,492,380 (GRCm39) |
splice site |
probably benign |
|
|
R2129:Polh
|
UTSW |
17 |
46,499,014 (GRCm39) |
nonsense |
probably null |
|
|
R4226:Polh
|
UTSW |
17 |
46,483,520 (GRCm39) |
missense |
probably benign |
|
|
R4227:Polh
|
UTSW |
17 |
46,483,520 (GRCm39) |
missense |
probably benign |
|
|
R5483:Polh
|
UTSW |
17 |
46,483,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5878:Polh
|
UTSW |
17 |
46,505,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6039:Polh
|
UTSW |
17 |
46,498,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6039:Polh
|
UTSW |
17 |
46,498,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6177:Polh
|
UTSW |
17 |
46,495,670 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6345:Polh
|
UTSW |
17 |
46,493,664 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6545:Polh
|
UTSW |
17 |
46,493,685 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6712:Polh
|
UTSW |
17 |
46,501,655 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7054:Polh
|
UTSW |
17 |
46,509,642 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7708:Polh
|
UTSW |
17 |
46,483,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7855:Polh
|
UTSW |
17 |
46,486,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Polh
|
UTSW |
17 |
46,510,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Polh
|
UTSW |
17 |
46,498,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation