Incidental Mutation 'R6712:Polh'
ID |
529187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polh
|
Ensembl Gene |
ENSMUSG00000023953 |
Gene Name |
polymerase (DNA directed), eta (RAD 30 related) |
Synonyms |
RAD30A |
MMRRC Submission |
044830-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R6712 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
46482281-46513567 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46501655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 179
(S179G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024749]
|
AlphaFold |
Q9JJN0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024749
AA Change: S179G
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000024749 Gene: ENSMUSG00000023953 AA Change: S179G
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
G |
A |
17: 32,551,862 (GRCm39) |
T443M |
probably damaging |
Het |
Ankmy1 |
A |
T |
1: 92,798,644 (GRCm39) |
V950D |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,733,852 (GRCm39) |
K3014E |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,318,908 (GRCm39) |
Y1586H |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,014,457 (GRCm39) |
I2010N |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,514,583 (GRCm39) |
M1446L |
probably benign |
Het |
Fcmr |
T |
C |
1: 130,805,588 (GRCm39) |
L274P |
probably damaging |
Het |
Foxn1 |
T |
G |
11: 78,252,085 (GRCm39) |
D382A |
probably damaging |
Het |
Gpr179 |
T |
C |
11: 97,226,993 (GRCm39) |
R1721G |
possibly damaging |
Het |
H2aj |
A |
G |
6: 136,785,524 (GRCm39) |
I63V |
probably benign |
Het |
Mfsd9 |
T |
C |
1: 40,825,601 (GRCm39) |
|
probably null |
Het |
Mis18a |
T |
C |
16: 90,524,045 (GRCm39) |
E39G |
possibly damaging |
Het |
Mmp27 |
A |
T |
9: 7,572,177 (GRCm39) |
T126S |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Myo5a |
A |
C |
9: 75,120,182 (GRCm39) |
D1635A |
probably benign |
Het |
Ngdn |
T |
C |
14: 55,253,645 (GRCm39) |
V11A |
probably benign |
Het |
Nlrc4 |
A |
T |
17: 74,753,831 (GRCm39) |
M184K |
probably damaging |
Het |
Or10h28 |
T |
G |
17: 33,488,242 (GRCm39) |
H181Q |
possibly damaging |
Het |
Or52e15 |
A |
T |
7: 104,645,625 (GRCm39) |
I162K |
possibly damaging |
Het |
Peli2 |
C |
A |
14: 48,488,051 (GRCm39) |
Q81K |
probably benign |
Het |
Pfdn2 |
T |
A |
1: 171,185,419 (GRCm39) |
I97K |
probably damaging |
Het |
Pknox1 |
C |
A |
17: 31,814,290 (GRCm39) |
T205K |
probably benign |
Het |
Ppp4r4 |
G |
A |
12: 103,562,702 (GRCm39) |
R557Q |
probably damaging |
Het |
Sipa1 |
A |
T |
19: 5,710,847 (GRCm39) |
D54E |
possibly damaging |
Het |
Tmc8 |
C |
A |
11: 117,675,639 (GRCm39) |
N185K |
probably benign |
Het |
Tns1 |
C |
A |
1: 74,118,460 (GRCm39) |
E57* |
probably null |
Het |
Tyro3 |
G |
A |
2: 119,635,335 (GRCm39) |
A209T |
probably null |
Het |
Ube2f |
T |
A |
1: 91,204,171 (GRCm39) |
C116S |
possibly damaging |
Het |
Vmn1r231 |
T |
C |
17: 21,109,992 (GRCm39) |
T308A |
possibly damaging |
Het |
Wwc2 |
T |
A |
8: 48,353,838 (GRCm39) |
M99L |
probably benign |
Het |
Zfp516 |
C |
T |
18: 82,975,433 (GRCm39) |
R544C |
probably damaging |
Het |
Zfp764l1 |
A |
T |
7: 126,991,482 (GRCm39) |
H168Q |
probably 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 |
|
IGL01812:Polh
|
APN |
17 |
46,483,837 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTGAATACCCACCAATATCCTTG -3'
(R):5'- GCCCTTGAGCAAATATTGTGTG -3'
Sequencing Primer
(F):5'- AATACCCACCAATATCCTTGTTGTAC -3'
(R):5'- ACCTTTAATTCCGACACTTGGGAGG -3'
|
Posted On |
2018-07-24 |