Incidental Mutation 'R4227:Polh'
ID |
320112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Polh
|
Ensembl Gene |
ENSMUSG00000023953 |
Gene Name |
polymerase (DNA directed), eta (RAD 30 related) |
Synonyms |
RAD30A |
MMRRC Submission |
041047-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
R4227 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46482281-46513567 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46483520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 582
(S582P)
|
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: S582P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000024749 Gene: ENSMUSG00000023953 AA Change: S582P
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: ENSMUST00000169778
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (56/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGGTTTTGAAGTACAAGGC -3'
(R):5'- ACCACAGGAAGTCAGTCTTTC -3'
Sequencing Primer
(F):5'- GACTTCTGCAACTCCAATGC -3'
(R):5'- CAGTCTTTCTTTAAGCAGAAGAGCC -3'
|
Posted On |
2015-06-12 |