Mutagenetix > Incidental Mutation

Incidental Mutation 'R6039:Polh'

486768

Institutional Source

Beutler Lab

Gene Symbol

Polh

Ensembl Gene

ENSMUSG00000023953

Gene Name

polymerase (DNA directed), eta (RAD 30 related)

Synonyms

RAD30A

MMRRC Submission

043259-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R6039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46482281-46513567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46498959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 252 (R252H)

Ref Sequence

ENSEMBL: ENSMUSP00000024749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024749]

AlphaFold

Q9JJN0

Predicted Effect

probably benign
Transcript: ENSMUST00000024749
AA Change: R252H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: R252H

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: 99.6%
10x: 98.1%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,885,527 (GRCm39)	R416Q	possibly damaging	Het
Adgre1	C	A	17: 57,713,859 (GRCm39)	D181E	probably benign	Het
Arhgap24	T	C	5: 103,028,652 (GRCm39)	S183P	probably damaging	Het
Asb1	T	C	1: 91,474,748 (GRCm39)	L90P	probably damaging	Het
Bmp3	T	C	5: 99,020,209 (GRCm39)	F211L	probably benign	Het
C8a	A	G	4: 104,703,139 (GRCm39)	I306T	probably benign	Het
Cdkn3	G	A	14: 47,007,373 (GRCm39)	G177R	probably damaging	Het
Chat	A	G	14: 32,170,984 (GRCm39)	S172P	probably damaging	Het
Chd5	CAAGAAGAAGAAGAAGAA	CAAGAAGAAGAAGAA	4: 152,438,078 (GRCm39)		probably benign	Het
Cyp4a12a	T	C	4: 115,184,420 (GRCm39)	I265T	probably damaging	Het
Dlst	T	A	12: 85,165,664 (GRCm39)		probably null	Het
Dnmt1	A	T	9: 20,837,716 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,205,800 (GRCm39)	E1066K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fstl1	T	A	16: 37,641,538 (GRCm39)	S105T	probably benign	Het
Gm19410	C	G	8: 36,276,518 (GRCm39)	A1725G	probably benign	Het
Hspb7	A	G	4: 141,151,215 (GRCm39)	N119S	probably damaging	Het
Il20	T	A	1: 130,838,478 (GRCm39)	D73V	possibly damaging	Het
Insrr	T	C	3: 87,716,608 (GRCm39)	I612T	possibly damaging	Het
Kcnma1	T	C	14: 23,359,105 (GRCm39)	Y1107C	probably benign	Het
Klhl32	A	G	4: 24,792,615 (GRCm39)		probably null	Het
Krt77	C	A	15: 101,769,351 (GRCm39)	R470L	possibly damaging	Het
Muc1	T	C	3: 89,139,336 (GRCm39)	Y579H	probably damaging	Het
Myof	T	C	19: 37,966,132 (GRCm39)	D396G	probably damaging	Het
Myom1	T	G	17: 71,417,746 (GRCm39)	D1316E	probably damaging	Het
Nbea	T	C	3: 55,912,538 (GRCm39)	E1083G	probably benign	Het
Nek9	G	A	12: 85,359,859 (GRCm39)	A531V	probably benign	Het
Nlrp12	A	T	7: 3,290,002 (GRCm39)	I170N	possibly damaging	Het
Nup98	A	G	7: 101,784,002 (GRCm39)	I1093T	probably benign	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Paqr4	T	C	17: 23,958,968 (GRCm39)	D11G	probably damaging	Het
Parp8	A	G	13: 117,014,134 (GRCm39)	S561P	probably damaging	Het
Pcgf5	T	A	19: 36,420,306 (GRCm39)	F179L	probably damaging	Het
Pde4d	A	T	13: 110,084,876 (GRCm39)	Q422L	probably damaging	Het
Pigs	T	A	11: 78,232,651 (GRCm39)	V495E	probably damaging	Het
Psg28	T	C	7: 18,160,107 (GRCm39)	D363G	possibly damaging	Het
Ptgir	A	T	7: 16,640,815 (GRCm39)	I36F	possibly damaging	Het
Ptprr	G	A	10: 116,072,668 (GRCm39)		probably null	Het
Rax	C	T	18: 66,068,418 (GRCm39)	G229D	unknown	Het
Secisbp2l	T	A	2: 125,615,136 (GRCm39)	H163L	probably benign	Het
Sf3a2	A	G	10: 80,637,297 (GRCm39)	Y45C	probably damaging	Het
Sgo2a	C	T	1: 58,055,775 (GRCm39)	T653I	possibly damaging	Het
Slc38a9	A	T	13: 112,806,231 (GRCm39)	I26F	probably damaging	Het
Slc5a8	A	G	10: 88,722,436 (GRCm39)	I90V	probably benign	Het
Slx4	G	A	16: 3,803,911 (GRCm39)	H968Y	possibly damaging	Het
Stam2	T	C	2: 52,599,611 (GRCm39)	T233A	probably benign	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Trav4-2	G	A	14: 53,655,866 (GRCm39)	V8M	possibly damaging	Het
Ttll5	T	A	12: 85,878,729 (GRCm39)	H45Q	probably damaging	Het
Ttn	C	T	2: 76,714,762 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,051,217 (GRCm39)	F234L	possibly damaging	Het
Vmn2r74	T	A	7: 85,607,526 (GRCm39)		probably null	Het
Wdr6	CTG	C	9: 108,450,994 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,291 (GRCm39)	S997P	possibly damaging	Het
Zfp853	G	A	5: 143,274,529 (GRCm39)	Q364*	probably null	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
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'- GGTATATACCACAGATAATCCTGAAGT -3'
(R):5'- GCCTTCATGTGGAAACTATCAGTA -3'

Sequencing Primer
(F):5'- AGTGTCACCTCTCTGACTG -3'
(R):5'- AGGTCCTGGCAAAACTTG -3'

Posted On

2017-08-16