Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Polh'

231799

Institutional Source

Beutler Lab

Gene Symbol

Polh

Ensembl Gene

ENSMUSG00000023953

Gene Name

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

Synonyms

RAD30A

MMRRC Submission

040096-MU

Accession Numbers

Essential gene?

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

Stock #

R2091 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

46482281-46513567 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 46492380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024749 (fasta)

Gene Model

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

AlphaFold

Q9JJN0

Predicted Effect

probably benign
Transcript: ENSMUST00000024749

SMART Domains

Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (50/51)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
Adam9	A	T	8: 25,485,200 (GRCm39)		probably benign	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Angpt4	A	T	2: 151,778,703 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gbp7	A	T	3: 142,251,316 (GRCm39)		probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Hook3	A	T	8: 26,549,422 (GRCm39)		probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Pik3cd	A	G	4: 149,737,156 (GRCm39)	L880P	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Prom1	T	C	5: 44,171,428 (GRCm39)		probably benign	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Unc80	T	A	1: 66,710,874 (GRCm39)		probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	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
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

Predicted Primers

Posted On

2014-09-18