Incidental Mutation 'IGL01996:Polh'
| ID |
182903 |
| 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 # |
IGL01996
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46482281-46513567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46483927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 446
(D446G)
|
| 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: D446G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: D446G
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
| Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
| Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
| Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
| F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
| H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
| Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
| Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
| Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
| Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
| Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
| Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
| Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
| Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
| Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
| Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
| Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
| Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
| Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
| Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
| Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
| Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
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 |
|
|
IGL01812:Polh
|
APN |
17 |
46,483,837 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
2014-05-07 |
Incidental Mutation