Mutagenetix > Incidental Mutation

Incidental Mutation 'R7054:Polh'

547812

Institutional Source

Beutler Lab

Gene Symbol

Polh

Ensembl Gene

ENSMUSG00000023953

Gene Name

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

Synonyms

RAD30A

MMRRC Submission

045151-MU

Accession Numbers

Essential gene?

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

Stock #

R7054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46482281-46513567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46509642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 64 (W64R)

Ref Sequence

ENSEMBL: ENSMUSP00000024749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024749] [ENSMUST00000087031]

AlphaFold

Q9JJN0

Predicted Effect

probably benign
Transcript: ENSMUST00000024749
AA Change: W64R

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: W64R

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: ENSMUST00000087031

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150

Domain	Start	End	E-Value	Type
IBN_N	33	100	6.73e-3	SMART
Pfam:Xpo1	109	271	1.4e-34	PFAM
low complexity region	326	342	N/A	INTRINSIC
low complexity region	770	779	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,486 (GRCm39)	H44L	unknown	Het
Abcc3	T	C	11: 94,256,051 (GRCm39)	K478R	probably benign	Het
Ank2	A	T	3: 126,736,952 (GRCm39)		probably benign	Het
Apod	A	G	16: 31,129,950 (GRCm39)	V2A	probably benign	Het
Armh4	C	A	14: 50,011,155 (GRCm39)	S184I	probably damaging	Het
Aspg	T	A	12: 112,092,824 (GRCm39)	D530E	probably damaging	Het
Atxn7	A	T	14: 14,100,878 (GRCm38)	T855S	probably benign	Het
Blmh	G	C	11: 76,859,451 (GRCm39)	G351R	probably damaging	Het
Cc2d2a	C	T	5: 43,857,321 (GRCm39)	R454*	probably null	Het
Cenpp	T	C	13: 49,619,233 (GRCm39)	E188G	probably damaging	Het
Cimip3	A	G	17: 47,748,114 (GRCm39)		probably null	Het
Creg2	T	C	1: 39,662,376 (GRCm39)	E252G	probably benign	Het
Dot1l	A	G	10: 80,622,857 (GRCm39)	Y636C	probably damaging	Het
Dpy30	A	G	17: 74,614,835 (GRCm39)	I36T	probably benign	Het
Eed	A	G	7: 89,613,935 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,353 (GRCm39)	D351G	unknown	Het
Fra10ac1	C	T	19: 38,212,567 (GRCm39)		probably benign	Het
Gdpd4	T	A	7: 97,623,136 (GRCm39)	I249N	probably damaging	Het
Glb1l2	A	T	9: 26,676,423 (GRCm39)	V600D	probably null	Het
Gm13889	A	T	2: 93,787,459 (GRCm39)		probably benign	Het
Gm17654	T	A	14: 43,813,327 (GRCm39)	N188Y		Het
Gm3327	T	C	14: 44,363,732 (GRCm39)	F112S		Het
H2-Ab1	T	C	17: 34,482,316 (GRCm39)	S11P	probably benign	Het
Hcn4	T	C	9: 58,763,000 (GRCm39)	S522P	unknown	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hoxa1	A	G	6: 52,135,180 (GRCm39)	S8P	probably damaging	Het
Hoxd13	A	G	2: 74,499,369 (GRCm39)	Y239C	probably damaging	Het
Ifih1	T	A	2: 62,440,859 (GRCm39)	I485L	probably benign	Het
Ift52	G	A	2: 162,871,716 (GRCm39)	V183M	probably damaging	Het
Ikbkb	A	G	8: 23,161,658 (GRCm39)	V410A	possibly damaging	Het
Il22ra1	G	A	4: 135,478,473 (GRCm39)	V515I	probably benign	Het
Klk1b3	A	T	7: 43,850,863 (GRCm39)	I132F	probably damaging	Het
Limk2	T	C	11: 3,305,448 (GRCm39)	T206A	possibly damaging	Het
Llph	A	T	10: 120,067,240 (GRCm39)		probably benign	Het
Lrrc26	T	A	2: 25,180,087 (GRCm39)	D29E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Mfhas1	T	C	8: 36,055,792 (GRCm39)	V89A	probably benign	Het
Mycbp2	G	A	14: 103,393,534 (GRCm39)	T2899I	possibly damaging	Het
Nckap5	A	T	1: 126,186,449 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,275,619 (GRCm39)	D530G	probably null	Het
Or10ag55-ps1	T	A	2: 87,114,775 (GRCm39)	M47K	probably benign	Het
Or56a3b	C	T	7: 104,771,170 (GRCm39)	R169*	probably null	Het
Pax4	A	G	6: 28,446,322 (GRCm39)	I57T	probably damaging	Het
Peg12	T	C	7: 62,113,711 (GRCm39)	I129V	possibly damaging	Het
Pex6	G	A	17: 47,031,447 (GRCm39)	A416T	probably benign	Het
Pgghg	G	A	7: 140,524,631 (GRCm39)	R326H	probably benign	Het
Pgk2	T	A	17: 40,519,366 (GRCm39)	M21L	probably benign	Het
Rassf7	T	A	7: 140,797,556 (GRCm39)	H256Q	probably benign	Het
Rc3h2	A	G	2: 37,265,258 (GRCm39)	M1184T	probably benign	Het
Ror1	A	T	4: 100,299,436 (GRCm39)	E936D	probably benign	Het
Skic3	G	A	13: 76,283,079 (GRCm39)	A769T	probably damaging	Het
Slco1b2	A	T	6: 141,617,974 (GRCm39)	T440S	probably damaging	Het
Specc1	T	A	11: 62,008,604 (GRCm39)	V40E	probably damaging	Het
Tarbp1	T	A	8: 127,201,234 (GRCm39)	S191C	possibly damaging	Het
Timm22	A	G	11: 76,298,071 (GRCm39)	E14G	possibly damaging	Het
Tpp2	T	A	1: 44,022,318 (GRCm39)	D905E	probably damaging	Het
Trav7-5	T	C	14: 53,768,756 (GRCm39)	L108P	probably damaging	Het
Ttc9b	A	G	7: 27,353,667 (GRCm39)	T106A	probably benign	Het
Ttn	T	C	2: 76,545,012 (GRCm39)	S32697G	probably damaging	Het
Usp17la	T	G	7: 104,510,514 (GRCm39)	L373R	probably benign	Het
Vmn1r113	A	G	7: 20,521,427 (GRCm39)	N73S	probably benign	Het
Vmn1r42	T	C	6: 89,822,051 (GRCm39)	T173A	possibly damaging	Het
Vmn2r106	A	G	17: 20,499,182 (GRCm39)	V243A	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Zc3h13	T	C	14: 75,559,227 (GRCm39)	S379P	probably benign	Het
Zfp870	T	C	17: 33,102,456 (GRCm39)	Y292C	probably damaging	Het
Zfp977	A	T	7: 42,229,786 (GRCm39)	N246K	possibly damaging	Het
Zp1	G	A	19: 10,896,104 (GRCm39)	T207M	probably 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
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
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
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'- GCAGCAGGCTAGCAGTAAC -3'
(R):5'- GTGTCTTAATCTATGGAAAGTCAGTAG -3'

Sequencing Primer
(F):5'- GGCTAGCAGTAACAAGTATCCCTG -3'
(R):5'- AAAGTCAGTAGTTGTGTTGTAGGTC -3'

Posted On

2019-05-13