Incidental Mutation 'R4226:Polh'
| ID |
320059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polh
|
| Ensembl Gene |
ENSMUSG00000023953 |
| Gene Name |
polymerase (DNA directed), eta (RAD 30 related) |
| Synonyms |
RAD30A |
| MMRRC Submission |
041046-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R4226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
| Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
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 |
| Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
| Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
| Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
| Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
| Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTCTGCAACTCCAATGC -3'
(R):5'- GCCTTCACTTGTGTTCCAAAG -3'
Sequencing Primer
(F):5'- CTCCAATGCAAAATGGTAGTCCGTG -3'
(R):5'- ACTTGTGTTCCAAAGCAGCC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation