Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01593:Pole2'

91662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pole2

Ensembl Gene

ENSMUSG00000020974

Gene Name

polymerase (DNA directed), epsilon 2 (p59 subunit)

Synonyms

DNA polymerase epsilon small subunit

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

69201773-69228195 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 69223099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411]

AlphaFold

O54956

Predicted Effect

probably null
Transcript: ENSMUST00000021359

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974

Domain	Start	End	E-Value	Type
Pfam:Dpoe2NT	2	74	1.9e-32	PFAM
Pfam:DNA_pol_E_B	287	489	1.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220745

Predicted Effect

probably null
Transcript: ENSMUST00000221411

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,557,650	I310N	probably damaging	Het
Ackr4	C	T	9: 104,085,931		probably benign	Het
Ankib1	A	T	5: 3,732,590	D346E	probably benign	Het
Armc4	T	C	18: 7,127,345	K956R	probably benign	Het
Asap2	G	T	12: 21,213,202	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 86,944,299	F224I	probably damaging	Het
Bnc2	T	C	4: 84,276,241		probably null	Het
Btbd11	T	A	10: 85,654,475		probably benign	Het
Cd33	A	G	7: 43,530,281	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,719,474		probably null	Het
Dym	C	T	18: 75,114,781		probably benign	Het
Enpp5	A	G	17: 44,080,721	T14A	probably benign	Het
Ggt1	T	C	10: 75,585,287		probably null	Het
Gm17541	T	A	12: 4,689,868		probably benign	Het
Gpr39	A	T	1: 125,677,451	I39F	probably benign	Het
Kcnb1	G	T	2: 167,106,207	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,898,754	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,966,814	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,134,629	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,291,287		probably null	Het
Nckap1	A	T	2: 80,520,570	M725K	probably benign	Het
Olfr1535	T	A	13: 21,555,219	I268F	probably damaging	Het
Prss32	A	G	17: 23,856,008	T111A	probably benign	Het
Rgs9	A	G	11: 109,249,049		probably benign	Het
Slc2a4	A	G	11: 69,944,828	C361R	probably damaging	Het
Ston1	G	A	17: 88,637,010	G615R	probably null	Het
Tas2r139	T	G	6: 42,140,957	W8G	probably benign	Het
Tmem101	A	T	11: 102,155,878	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,941,029		probably null	Het
Uba2	A	G	7: 34,146,264	V478A	probably damaging	Het
Vps13a	T	C	19: 16,762,181	D52G	probably damaging	Het

Other mutations in Pole2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pole2	APN	12	69226445	splice site	probably benign
IGL00940:Pole2	APN	12	69215360	missense	probably damaging	1.00
IGL01609:Pole2	APN	12	69207857	critical splice donor site	probably null
IGL01717:Pole2	APN	12	69213849	missense	probably damaging	1.00
IGL02168:Pole2	APN	12	69201886	unclassified	probably benign
IGL02208:Pole2	APN	12	69223162	missense	possibly damaging	0.91
IGL02966:Pole2	APN	12	69209875	missense	probably damaging	1.00
PIT4504001:Pole2	UTSW	12	69209985	nonsense	probably null
R0069:Pole2	UTSW	12	69209887	missense	probably damaging	1.00
R0069:Pole2	UTSW	12	69209887	missense	probably damaging	1.00
R0396:Pole2	UTSW	12	69222386	splice site	probably benign
R0574:Pole2	UTSW	12	69211457	splice site	probably benign
R0620:Pole2	UTSW	12	69209879	missense	probably damaging	1.00
R0685:Pole2	UTSW	12	69211413	missense	probably damaging	0.98
R0791:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1452:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1453:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1455:Pole2	UTSW	12	69207929	missense	probably benign	0.06
R1912:Pole2	UTSW	12	69209990	missense	probably damaging	0.99
R2067:Pole2	UTSW	12	69228152	missense	probably benign	0.01
R2929:Pole2	UTSW	12	69209938	missense	probably benign	0.13
R3016:Pole2	UTSW	12	69222062	missense	probably benign	0.14
R4504:Pole2	UTSW	12	69222468	missense	probably benign	0.00
R4765:Pole2	UTSW	12	69222052	missense	possibly damaging	0.49
R4790:Pole2	UTSW	12	69226365	missense	probably benign	0.00
R4896:Pole2	UTSW	12	69223150	missense	probably damaging	0.97
R6998:Pole2	UTSW	12	69213906	missense	possibly damaging	0.82
R7257:Pole2	UTSW	12	69202910	missense	probably damaging	1.00
R7535:Pole2	UTSW	12	69222429	missense	probably benign	0.10
R7841:Pole2	UTSW	12	69204258	missense	probably damaging	1.00
R8437:Pole2	UTSW	12	69204187	nonsense	probably null
R8506:Pole2	UTSW	12	69208960	missense	probably benign
R9467:Pole2	UTSW	12	69208945	missense	probably benign	0.40
R9494:Pole2	UTSW	12	69202957	missense	possibly damaging	0.73

Posted On

2013-12-09