Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03003:Polh'

407450

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) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

46482281-46513567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46505292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 108 (V108E)

Ref Sequence

ENSEMBL: ENSMUSP00000024749 (fasta)

Gene Model

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

AlphaFold

Q9JJN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024749
AA Change: V108E

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: V108E

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,671,509 (GRCm39)	P577L	probably damaging	Het
Aff3	A	T	1: 38,248,651 (GRCm39)	S819T	probably damaging	Het
Aftph	G	T	11: 20,676,982 (GRCm39)	S209*	probably null	Het
Astn1	T	A	1: 158,439,965 (GRCm39)	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,828,608 (GRCm39)	K29E	probably benign	Het
Ccdc93	T	C	1: 121,390,846 (GRCm39)	S273P	possibly damaging	Het
Cd200r3	C	A	16: 44,764,139 (GRCm39)	H2N	probably benign	Het
Cd200r3	G	T	16: 44,764,138 (GRCm39)	M1I	probably null	Het
Col7a1	G	A	9: 108,804,024 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,642,640 (GRCm39)	M240L	probably benign	Het
Dcstamp	T	C	15: 39,617,906 (GRCm39)	V105A	possibly damaging	Het
Dmbt1	C	A	7: 130,684,409 (GRCm39)	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,469,876 (GRCm39)	M634K	probably benign	Het
Farp2	T	C	1: 93,495,140 (GRCm39)	Y138H	probably damaging	Het
Fga	T	C	3: 82,940,037 (GRCm39)	S564P	probably damaging	Het
Gbf1	T	C	19: 46,244,094 (GRCm39)	L142S	probably damaging	Het
Gm5422	T	C	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Helz2	A	G	2: 180,882,046 (GRCm39)	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,323,498 (GRCm39)	T4204K	probably damaging	Het
Ift81	T	C	5: 122,732,725 (GRCm39)	I270V	probably benign	Het
Katnip	A	T	7: 125,451,132 (GRCm39)	I1088F	probably damaging	Het
Kif6	C	T	17: 50,060,899 (GRCm39)	R411*	probably null	Het
Klhl35	T	A	7: 99,119,550 (GRCm39)	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,340,531 (GRCm39)	D1531E	probably benign	Het
Muc5b	C	A	7: 141,417,351 (GRCm39)	D3432E	probably benign	Het
Nipbl	A	T	15: 8,379,798 (GRCm39)	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,782,726 (GRCm39)	V228L	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,424,910 (GRCm39)	A210V	possibly damaging	Het
Or13a18	A	G	7: 140,190,283 (GRCm39)	Y60C	probably damaging	Het
Or1l4b	T	C	2: 37,036,464 (GRCm39)	V80A	probably benign	Het
Osbpl7	T	C	11: 96,941,521 (GRCm39)	Y15H	probably benign	Het
Pde8b	T	A	13: 95,178,465 (GRCm39)	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,892,123 (GRCm39)	S280T	probably benign	Het
Pkd1	T	A	17: 24,812,577 (GRCm39)		probably null	Het
Prob1	A	G	18: 35,786,428 (GRCm39)	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,582 (GRCm39)	N1557K	probably damaging	Het
Rev1	A	C	1: 38,127,154 (GRCm39)	F369V	possibly damaging	Het
Rgma	A	G	7: 73,067,188 (GRCm39)	N148D	probably damaging	Het
Robo3	A	G	9: 37,330,587 (GRCm39)	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Sema6c	T	C	3: 95,076,925 (GRCm39)	L337P	probably damaging	Het
Shc4	A	T	2: 125,565,253 (GRCm39)	Y15*	probably null	Het
Slc4a9	T	C	18: 36,669,946 (GRCm39)	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,035,168 (GRCm39)	N864D	probably damaging	Het
Sspo	T	C	6: 48,432,021 (GRCm39)	L745P	probably damaging	Het
Syce1l	A	G	8: 114,380,699 (GRCm39)	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,473,781 (GRCm39)	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,711,887 (GRCm39)	D7G	probably benign	Het
Tmem109	A	C	19: 10,851,695 (GRCm39)	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,350,834 (GRCm39)	R333G	probably damaging	Het
Ttn	T	G	2: 76,611,955 (GRCm39)	S17316R	probably damaging	Het
Usp10	A	G	8: 120,681,549 (GRCm39)	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,345,906 (GRCm39)	F2716I	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
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
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

2016-08-02