Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00940:Pole2'

28751

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 #

IGL00940

Quality Score

Status

Chromosome

Chromosomal Location

69201773-69228195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69215360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 148 (T148I)

Ref Sequence

ENSEMBL: ENSMUSP00000152262 (fasta)

Gene Model

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

AlphaFold

O54956

Predicted Effect

probably damaging
Transcript: ENSMUST00000021359
AA Change: T148I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: T148I

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

probably damaging
Transcript: ENSMUST00000221411
AA Change: T148I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221806

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1	A	G	17: 28,057,354	N1024D	probably damaging	Het
Cts7	A	G	13: 61,356,909		probably null	Het
Dock3	T	A	9: 106,911,377		probably benign	Het
Fbxo6	A	G	4: 148,146,110	F232L	probably benign	Het
Hsd3b6	A	T	3: 98,806,624	F120I	probably damaging	Het
Il4ra	G	A	7: 125,569,175		probably null	Het
Irs4	A	T	X: 141,722,144	F1019I	unknown	Het
Klc1	A	G	12: 111,787,498	T464A	probably damaging	Het
Mical3	T	C	6: 121,022,410	T660A	possibly damaging	Het
Ndufs7	T	A	10: 80,255,121	V158E	probably damaging	Het
Nhs	T	A	X: 161,837,230	N1510I	probably damaging	Het
Olfr1085	T	G	2: 86,657,726	H244P	probably damaging	Het
Olfr78	A	G	7: 102,742,262	V247A	probably damaging	Het
Pramel1	T	A	4: 143,397,556	L267H	probably damaging	Het
Rag1	T	C	2: 101,642,388	E803G	probably damaging	Het
Rassf1	G	T	9: 107,558,311		probably benign	Het
Rnf220	T	C	4: 117,307,675	K210R	probably benign	Het
Setd7	T	A	3: 51,533,038	D194V	probably damaging	Het
Snd1	T	C	6: 28,745,175		probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Tex37	C	A	6: 70,913,388	R140L	probably benign	Het
Tlr5	T	C	1: 182,974,196	V355A	possibly damaging	Het
Ush2a	A	T	1: 188,357,961	R414*	probably null	Het
Zfyve26	A	G	12: 79,280,900	S559P	probably benign	Het

Other mutations in Pole2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pole2	APN	12	69226445	splice site	probably benign
IGL01593:Pole2	APN	12	69223099	splice site	probably null
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

2013-04-17