Incidental Mutation 'IGL00585:Polh'
ID277814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polh
Ensembl Gene ENSMUSG00000023953
Gene Namepolymerase (DNA directed), eta (RAD 30 related)
SynonymsRAD30A
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.464) question?
Stock #IGL00585
Quality Score
Status
Chromosome17
Chromosomal Location46172004-46202625 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 46172243 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024748] [ENSMUST00000024749] [ENSMUST00000169383] [ENSMUST00000172170]
Predicted Effect probably benign
Transcript: ENSMUST00000024748
SMART Domains Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000163941
Predicted Effect probably benign
Transcript: ENSMUST00000166252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166663
Predicted Effect probably benign
Transcript: ENSMUST00000166701
SMART Domains Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 I664F probably damaging Het
Abcg4 A T 9: 44,281,623 M142K probably benign Het
Afdn A G 17: 13,884,628 T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 F324S probably damaging Het
Cacng7 A G 7: 3,366,031 Y170C probably damaging Het
Ceacam18 G A 7: 43,637,011 V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 P144S probably damaging Het
Chuk T C 19: 44,078,312 H652R probably damaging Het
Ckap5 C T 2: 91,619,825 L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 G594S possibly damaging Het
Ctsq A T 13: 61,037,127 D248E probably benign Het
Ep400 A T 5: 110,755,905 I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 probably null Het
Gldn T A 9: 54,338,464 I433N probably damaging Het
Gm136 T A 4: 34,752,322 E69V probably damaging Het
Gm28177 T C 1: 52,082,579 probably null Het
Gtf2h2 A G 13: 100,480,998 probably benign Het
Ints12 T C 3: 133,100,809 probably null Het
Ltbp4 T C 7: 27,326,733 D615G probably damaging Het
Mgme1 C T 2: 144,271,989 P4S probably benign Het
Nae1 A G 8: 104,526,278 probably null Het
Nup133 G A 8: 123,909,994 A956V probably damaging Het
Oacyl T A 18: 65,749,640 M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 probably benign Het
Ppp6r3 A G 19: 3,490,826 C431R probably damaging Het
Pprc1 T C 19: 46,062,648 S206P possibly damaging Het
Rab20 A G 8: 11,454,212 Y163H probably benign Het
Sde2 T A 1: 180,855,818 C46S possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spata20 T G 11: 94,479,117 L784F probably damaging Het
Tnnt1 A C 7: 4,507,550 M224R possibly damaging Het
Trank1 T C 9: 111,349,290 F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 probably benign Het
Usp54 T A 14: 20,573,837 S651C probably damaging Het
Vps45 A G 3: 96,000,066 *571R probably null Het
Yod1 G A 1: 130,719,133 G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 probably benign Het
Zfp648 T A 1: 154,204,189 D31E possibly damaging Het
Other mutations in Polh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Polh APN 17 46172243 unclassified probably benign
IGL01812:Polh APN 17 46172911 missense probably benign 0.04
IGL01996:Polh APN 17 46173001 missense probably benign 0.00
IGL02578:Polh APN 17 46194292 nonsense probably null
IGL02829:Polh APN 17 46172902 missense possibly damaging 0.82
IGL03003:Polh APN 17 46194366 missense possibly damaging 0.57
R1435:Polh UTSW 17 46194255 missense probably damaging 1.00
R2091:Polh UTSW 17 46181454 splice site probably benign
R2129:Polh UTSW 17 46188088 nonsense probably null
R4226:Polh UTSW 17 46172594 missense probably benign
R4227:Polh UTSW 17 46172594 missense probably benign
R5483:Polh UTSW 17 46172745 missense probably benign 0.01
R5878:Polh UTSW 17 46194325 missense probably damaging 0.99
R6039:Polh UTSW 17 46188033 missense probably benign 0.00
R6039:Polh UTSW 17 46188033 missense probably benign 0.00
R6177:Polh UTSW 17 46184744 missense possibly damaging 0.94
R6345:Polh UTSW 17 46182738 missense probably benign 0.03
R6545:Polh UTSW 17 46182759 missense possibly damaging 0.74
R6712:Polh UTSW 17 46190729 missense probably benign 0.12
R7054:Polh UTSW 17 46198716 missense probably benign 0.24
R7708:Polh UTSW 17 46172700 missense probably benign 0.00
R7855:Polh UTSW 17 46175248 missense probably damaging 1.00
Posted On2015-04-16