Mutagenetix > Incidental Mutation

Incidental Mutation 'R7960:Pole'

650045

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

046004-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110286306-110337474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110289861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 95 (K95R)

Ref Sequence

ENSEMBL: ENSMUSP00000007296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000031472] [ENSMUST00000112482] [ENSMUST00000155266]

AlphaFold

Q9WVF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007296
AA Change: K95R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: K95R

Domain	Start	End	E-Value	Type
POLBc	267	870	9.42e-97	SMART
Blast:POLBc	903	970	1e-28	BLAST
Blast:POLBc	1014	1073	2e-22	BLAST
Blast:POLBc	1195	1266	7e-21	BLAST
low complexity region	1275	1294	N/A	INTRINSIC
Blast:DUF1744	1401	1430	2e-7	BLAST
DUF1744	1524	1924	1.9e-236	SMART
coiled coil region	1936	1963	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031472

SMART Domains

Protein: ENSMUSP00000031472
Gene: ENSMUSG00000029499

Domain	Start	End	E-Value	Type
low complexity region	17	35	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
Pfam:Mpv17_PMP22	128	192	2.7e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112482
AA Change: K95R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108101
Gene: ENSMUSG00000007080
AA Change: K95R

Domain	Start	End	E-Value	Type
Pfam:DNA_pol_B_exo1	86	190	1.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155266

SMART Domains

Protein: ENSMUSP00000117729
Gene: ENSMUSG00000029499

Domain	Start	End	E-Value	Type
low complexity region	17	35	N/A	INTRINSIC

Meta Mutation Damage Score

0.1879

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 116,103,246 (GRCm38)	S82P	possibly damaging	Het
AA792892	A	G	5: 94,383,880 (GRCm38)	M208V	probably benign	Het
Ablim2	A	C	5: 35,857,149 (GRCm38)	E450A	probably benign	Het
Acacb	G	T	5: 114,230,861 (GRCm38)	M1713I	probably benign	Het
Acbd6	C	A	1: 155,687,020 (GRCm38)	Q256K	probably benign	Het
Agbl2	A	T	2: 90,791,631 (GRCm38)	N154I	probably benign	Het
Ahcyl2	A	G	6: 29,870,627 (GRCm38)	N181D	probably benign	Het
Aldh18a1	A	T	19: 40,557,820 (GRCm38)	D544E	probably benign	Het
Anapc1	A	T	2: 128,674,593 (GRCm38)	L407Q	probably damaging	Het
Arhgap26	T	A	18: 39,229,927 (GRCm38)	V34D		Het
Brd3	A	T	2: 27,452,933 (GRCm38)	S516T	probably benign	Het
Bsn	A	G	9: 108,115,548 (GRCm38)	S1002P	probably damaging	Het
C4b	G	T	17: 34,741,278 (GRCm38)		probably null	Het
Camta1	T	C	4: 151,148,533 (GRCm38)	T228A	probably benign	Het
Cct6b	T	C	11: 82,741,395 (GRCm38)	K256E	possibly damaging	Het
Cep85l	T	A	10: 53,296,307 (GRCm38)	Q552L	probably benign	Het
Col6a5	A	G	9: 105,945,850 (GRCm38)	F103L	unknown	Het
Copb2	A	G	9: 98,580,354 (GRCm38)	Q464R	possibly damaging	Het
Dlc1	G	T	8: 36,937,835 (GRCm38)	H267N	probably benign	Het
Dnajb2	T	C	1: 75,241,411 (GRCm38)	I184T		Het
Dnajc9	C	T	14: 20,388,696 (GRCm38)	E30K	possibly damaging	Het
Dock1	T	C	7: 135,077,188 (GRCm38)	L1012P	possibly damaging	Het
Dtnbp1	T	C	13: 44,953,174 (GRCm38)	K170R	probably benign	Het
F13b	T	A	1: 139,503,771 (GRCm38)	C26*	probably null	Het
Fam71a	T	A	1: 191,163,448 (GRCm38)	T333S	probably benign	Het
Ficd	G	T	5: 113,738,959 (GRCm38)	E398D	probably benign	Het
G6pc	G	A	11: 101,376,533 (GRCm38)	G270R	probably damaging	Het
Gm3604	T	C	13: 62,369,773 (GRCm38)	Y257C	probably damaging	Het
Hmcn1	T	A	1: 150,655,855 (GRCm38)	Y3221F	probably damaging	Het
Hs3st3b1	C	T	11: 63,921,868 (GRCm38)	G7D	possibly damaging	Het
Htr3b	A	T	9: 48,945,552 (GRCm38)	S209T	probably benign	Het
Iglon5	T	A	7: 43,476,902 (GRCm38)	E192D	probably benign	Het
Inpp5f	A	G	7: 128,693,914 (GRCm38)		probably null	Het
Kif26b	T	A	1: 178,678,919 (GRCm38)	C187S	probably damaging	Het
Klhl11	A	G	11: 100,463,979 (GRCm38)	S339P	probably benign	Het
Klk14	G	A	7: 43,692,043 (GRCm38)	A40T	probably damaging	Het
Kmt2c	G	A	5: 25,315,196 (GRCm38)	T1972I	probably benign	Het
Lama2	T	C	10: 26,993,098 (GRCm38)	T2784A	probably benign	Het
Loxhd1	T	A	18: 77,385,050 (GRCm38)	F1088I	probably damaging	Het
Map2k2	G	A	10: 81,119,134 (GRCm38)	R185Q	probably benign	Het
Mbd5	G	A	2: 49,279,784 (GRCm38)		probably null	Het
Mdc1	A	T	17: 35,850,678 (GRCm38)	R828*	probably null	Het
Nrp2	C	T	1: 62,745,408 (GRCm38)	R239C	probably damaging	Het
Olfr1002	A	G	2: 85,648,073 (GRCm38)	S83P	possibly damaging	Het
Parp4	C	A	14: 56,595,251 (GRCm38)		probably null	Het
Pbk	T	A	14: 65,809,201 (GRCm38)		probably null	Het
Phip	A	T	9: 82,893,348 (GRCm38)	D1060E	probably benign	Het
Pik3c2b	T	A	1: 133,103,849 (GRCm38)	L1509Q	probably damaging	Het
Pik3r5	T	A	11: 68,495,970 (GRCm38)	F808L	probably benign	Het
Plcl1	T	A	1: 55,697,284 (GRCm38)	S595T	possibly damaging	Het
Plxna2	AT	A	1: 194,793,864 (GRCm38)		probably null	Het
Poteg	A	G	8: 27,456,860 (GRCm38)	T259A	probably benign	Het
Ptpn12	G	T	5: 21,055,689 (GRCm38)	P20Q	probably benign	Het
Ptpn5	T	A	7: 47,079,547 (GRCm38)	T440S	possibly damaging	Het
Ptpru	T	C	4: 131,788,509 (GRCm38)	R845G	probably benign	Het
Rasgrp2	G	T	19: 6,414,809 (GRCm38)	V596L	probably benign	Het
Rcbtb2	T	G	14: 73,161,944 (GRCm38)	V16G	probably benign	Het
Rel	T	C	11: 23,744,493 (GRCm38)	N289S	probably damaging	Het
Rpn1	T	A	6: 88,102,086 (GRCm38)	Y504N	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917 (GRCm38)		probably benign	Het
Scaf8	G	A	17: 3,171,122 (GRCm38)	V295M	unknown	Het
Slc25a48	T	A	13: 56,463,598 (GRCm38)	Y173N	probably damaging	Het
Slc8a3	C	T	12: 81,216,732 (GRCm38)	S627N	probably benign	Het
Snx8	T	A	5: 140,358,093 (GRCm38)	M123L	probably benign	Het
Sri	A	T	5: 8,064,586 (GRCm38)	Q180H	probably benign	Het
Sycp2	T	A	2: 178,404,660 (GRCm38)	R4S	probably null	Het
Tcstv1	G	A	13: 119,893,985 (GRCm38)	T37I	possibly damaging	Het
Tnnc2	A	T	2: 164,777,784 (GRCm38)	D87E	probably benign	Het
Trim7	A	T	11: 48,837,801 (GRCm38)	N92I	probably damaging	Het
Trpv6	C	T	6: 41,627,678 (GRCm38)	D97N	probably benign	Het
Ttc30a1	A	T	2: 75,980,844 (GRCm38)	D298E	probably benign	Het
Ttc37	T	C	13: 76,112,199 (GRCm38)	C87R	probably benign	Het
Ulk4	A	G	9: 121,272,956 (GRCm38)	Y19H	probably damaging	Het
Vmn2r69	C	T	7: 85,406,765 (GRCm38)	V722I	probably benign	Het
Zan	G	A	5: 137,464,892 (GRCm38)	T675I	unknown	Het
Zan	T	C	5: 137,409,603 (GRCm38)	D3643G	unknown	Het

Other mutations in Pole

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Pole	APN	5	110,303,565 (GRCm38)	splice site	probably benign
IGL00475:Pole	APN	5	110,291,096 (GRCm38)	nonsense	probably null
IGL00837:Pole	APN	5	110,302,009 (GRCm38)	missense	possibly damaging	0.91
IGL00976:Pole	APN	5	110,323,572 (GRCm38)	missense	probably benign	0.00
IGL01081:Pole	APN	5	110,337,240 (GRCm38)	missense	possibly damaging	0.92
IGL01503:Pole	APN	5	110,303,884 (GRCm38)	missense	probably damaging	1.00
IGL01640:Pole	APN	5	110,298,266 (GRCm38)	missense	probably null	0.08
IGL01987:Pole	APN	5	110,337,232 (GRCm38)	missense	probably benign	0.01
IGL02429:Pole	APN	5	110,299,800 (GRCm38)	missense	probably benign
IGL02733:Pole	APN	5	110,312,728 (GRCm38)	splice site	probably benign
IGL03102:Pole	APN	5	110,297,073 (GRCm38)	missense	probably damaging	1.00
IGL03157:Pole	APN	5	110,293,753 (GRCm38)	missense	probably benign
IGL03186:Pole	APN	5	110,299,920 (GRCm38)	critical splice donor site	probably null
IGL03271:Pole	APN	5	110,318,319 (GRCm38)	missense	probably benign
IGL03351:Pole	APN	5	110,301,998 (GRCm38)	splice site	probably benign
IGL03408:Pole	APN	5	110,294,560 (GRCm38)	missense	probably damaging	1.00
IGL03410:Pole	APN	5	110,324,559 (GRCm38)	missense	probably benign
ANU74:Pole	UTSW	5	110,289,370 (GRCm38)	missense	probably benign	0.44
PIT4495001:Pole	UTSW	5	110,303,914 (GRCm38)	missense	probably damaging	1.00
R0053:Pole	UTSW	5	110,293,340 (GRCm38)	missense	probably damaging	1.00
R0053:Pole	UTSW	5	110,293,340 (GRCm38)	missense	probably damaging	1.00
R0124:Pole	UTSW	5	110,303,992 (GRCm38)	missense	probably damaging	0.96
R0145:Pole	UTSW	5	110,324,425 (GRCm38)	missense	probably damaging	0.99
R0523:Pole	UTSW	5	110,303,593 (GRCm38)	missense	probably damaging	0.96
R0590:Pole	UTSW	5	110,317,926 (GRCm38)	missense	probably benign
R0625:Pole	UTSW	5	110,325,550 (GRCm38)	missense	possibly damaging	0.50
R0707:Pole	UTSW	5	110,298,988 (GRCm38)	missense	probably damaging	1.00
R1160:Pole	UTSW	5	110,295,253 (GRCm38)	missense	possibly damaging	0.85
R1320:Pole	UTSW	5	110,309,129 (GRCm38)	frame shift	probably null
R1384:Pole	UTSW	5	110,323,664 (GRCm38)	missense	possibly damaging	0.81
R1626:Pole	UTSW	5	110,293,369 (GRCm38)	missense	probably benign	0.25
R1643:Pole	UTSW	5	110,317,845 (GRCm38)	missense	probably damaging	1.00
R1655:Pole	UTSW	5	110,335,922 (GRCm38)	missense	probably damaging	1.00
R1668:Pole	UTSW	5	110,297,369 (GRCm38)	missense	probably damaging	1.00
R1783:Pole	UTSW	5	110,297,430 (GRCm38)	missense	probably damaging	1.00
R1843:Pole	UTSW	5	110,330,835 (GRCm38)	critical splice donor site	probably null
R1853:Pole	UTSW	5	110,306,853 (GRCm38)	missense	possibly damaging	0.95
R1867:Pole	UTSW	5	110,334,197 (GRCm38)	missense	probably benign	0.08
R1874:Pole	UTSW	5	110,323,664 (GRCm38)	missense	possibly damaging	0.81
R1891:Pole	UTSW	5	110,332,542 (GRCm38)	missense	probably damaging	1.00
R1928:Pole	UTSW	5	110,327,778 (GRCm38)	missense	probably benign
R2073:Pole	UTSW	5	110,325,551 (GRCm38)	missense	probably damaging	0.99
R2341:Pole	UTSW	5	110,330,963 (GRCm38)	missense	possibly damaging	0.67
R2448:Pole	UTSW	5	110,297,092 (GRCm38)	missense	probably damaging	1.00
R2504:Pole	UTSW	5	110,290,502 (GRCm38)	splice site	probably null
R3053:Pole	UTSW	5	110,289,795 (GRCm38)	missense	probably damaging	1.00
R3892:Pole	UTSW	5	110,336,439 (GRCm38)	missense	probably damaging	1.00
R3964:Pole	UTSW	5	110,312,782 (GRCm38)	missense	probably damaging	1.00
R3965:Pole	UTSW	5	110,312,782 (GRCm38)	missense	probably damaging	1.00
R4374:Pole	UTSW	5	110,337,205 (GRCm38)	missense	possibly damaging	0.89
R4376:Pole	UTSW	5	110,337,205 (GRCm38)	missense	possibly damaging	0.89
R4377:Pole	UTSW	5	110,337,205 (GRCm38)	missense	possibly damaging	0.89
R4520:Pole	UTSW	5	110,297,924 (GRCm38)	missense	probably damaging	1.00
R4670:Pole	UTSW	5	110,306,387 (GRCm38)	missense	probably benign	0.01
R4778:Pole	UTSW	5	110,330,832 (GRCm38)	missense	probably benign	0.00
R4887:Pole	UTSW	5	110,324,753 (GRCm38)	missense	probably damaging	0.99
R4898:Pole	UTSW	5	110,290,224 (GRCm38)	critical splice acceptor site	probably null
R5184:Pole	UTSW	5	110,294,934 (GRCm38)	missense	possibly damaging	0.91
R5359:Pole	UTSW	5	110,332,488 (GRCm38)	missense	probably benign	0.03
R5483:Pole	UTSW	5	110,294,568 (GRCm38)	missense	probably damaging	1.00
R5529:Pole	UTSW	5	110,332,466 (GRCm38)	missense	probably benign	0.20
R5576:Pole	UTSW	5	110,312,065 (GRCm38)	nonsense	probably null
R5817:Pole	UTSW	5	110,312,972 (GRCm38)	missense	probably damaging	1.00
R5877:Pole	UTSW	5	110,332,463 (GRCm38)	missense	probably benign
R5956:Pole	UTSW	5	110,337,287 (GRCm38)	unclassified	probably benign
R5990:Pole	UTSW	5	110,302,144 (GRCm38)	missense	probably damaging	1.00
R6019:Pole	UTSW	5	110,324,515 (GRCm38)	missense	probably benign	0.01
R6019:Pole	UTSW	5	110,324,514 (GRCm38)	missense	probably benign	0.01
R6093:Pole	UTSW	5	110,312,090 (GRCm38)	missense	probably benign	0.01
R6376:Pole	UTSW	5	110,336,374 (GRCm38)	missense	probably damaging	0.99
R6494:Pole	UTSW	5	110,324,722 (GRCm38)	missense	possibly damaging	0.86
R6535:Pole	UTSW	5	110,324,807 (GRCm38)	missense	probably damaging	1.00
R6723:Pole	UTSW	5	110,323,616 (GRCm38)	missense	probably benign	0.11
R6757:Pole	UTSW	5	110,303,610 (GRCm38)	missense	probably damaging	1.00
R6930:Pole	UTSW	5	110,293,290 (GRCm38)	missense	probably benign	0.01
R6988:Pole	UTSW	5	110,329,583 (GRCm38)	missense	probably damaging	0.97
R6992:Pole	UTSW	5	110,332,499 (GRCm38)	missense	probably damaging	0.99
R7067:Pole	UTSW	5	110,334,218 (GRCm38)	missense	probably damaging	1.00
R7097:Pole	UTSW	5	110,325,102 (GRCm38)	splice site	probably null
R7122:Pole	UTSW	5	110,325,102 (GRCm38)	splice site	probably null
R7202:Pole	UTSW	5	110,297,107 (GRCm38)	missense	possibly damaging	0.94
R7340:Pole	UTSW	5	110,334,464 (GRCm38)	missense	probably benign	0.06
R7345:Pole	UTSW	5	110,303,903 (GRCm38)	missense	possibly damaging	0.82
R7509:Pole	UTSW	5	110,330,705 (GRCm38)	start gained	probably benign
R7557:Pole	UTSW	5	110,312,994 (GRCm38)	missense	probably damaging	1.00
R7740:Pole	UTSW	5	110,331,041 (GRCm38)	missense	probably benign	0.00
R7792:Pole	UTSW	5	110,297,466 (GRCm38)	splice site	probably null
R7832:Pole	UTSW	5	110,317,797 (GRCm38)	missense	probably benign	0.00
R7849:Pole	UTSW	5	110,332,548 (GRCm38)	missense	probably benign	0.04
R7852:Pole	UTSW	5	110,306,829 (GRCm38)	missense	probably damaging	1.00
R8001:Pole	UTSW	5	110,312,734 (GRCm38)	missense	probably damaging	1.00
R8266:Pole	UTSW	5	110,294,920 (GRCm38)	missense	probably damaging	1.00
R8510:Pole	UTSW	5	110,334,446 (GRCm38)	missense	probably damaging	0.99
R8793:Pole	UTSW	5	110,297,748 (GRCm38)	missense	probably damaging	1.00
R8835:Pole	UTSW	5	110,306,909 (GRCm38)	missense	probably damaging	1.00
R8863:Pole	UTSW	5	110,289,367 (GRCm38)	missense	possibly damaging	0.94
R8929:Pole	UTSW	5	110,297,788 (GRCm38)	missense	probably damaging	0.98
R8968:Pole	UTSW	5	110,312,083 (GRCm38)	missense	possibly damaging	0.78
R8992:Pole	UTSW	5	110,323,622 (GRCm38)	missense	possibly damaging	0.88
R9018:Pole	UTSW	5	110,289,809 (GRCm38)	missense	probably benign	0.37
R9177:Pole	UTSW	5	110,332,422 (GRCm38)	missense	probably benign	0.04
R9250:Pole	UTSW	5	110,299,821 (GRCm38)	missense	possibly damaging	0.88
R9262:Pole	UTSW	5	110,325,557 (GRCm38)	missense	probably damaging	1.00
R9262:Pole	UTSW	5	110,325,556 (GRCm38)	missense	probably damaging	0.99
R9367:Pole	UTSW	5	110,297,089 (GRCm38)	missense	probably damaging	0.99
R9383:Pole	UTSW	5	110,291,026 (GRCm38)	missense	possibly damaging	0.61
R9626:Pole	UTSW	5	110,312,093 (GRCm38)	missense	possibly damaging	0.68
R9676:Pole	UTSW	5	110,295,565 (GRCm38)	missense	probably benign	0.00
R9720:Pole	UTSW	5	110,337,043 (GRCm38)	missense	probably benign	0.01
R9787:Pole	UTSW	5	110,318,000 (GRCm38)	critical splice donor site	probably null
R9794:Pole	UTSW	5	110,318,335 (GRCm38)	missense	probably benign	0.01
X0064:Pole	UTSW	5	110,317,904 (GRCm38)	nonsense	probably null
Y5377:Pole	UTSW	5	110,294,891 (GRCm38)	critical splice acceptor site	probably null
Y5380:Pole	UTSW	5	110,294,891 (GRCm38)	critical splice acceptor site	probably null
Z1088:Pole	UTSW	5	110,327,865 (GRCm38)	missense	possibly damaging	0.66
Z1177:Pole	UTSW	5	110,297,009 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAGTACTAGCTTCTCACAGG -3'
(R):5'- TGAGCAACCTGGACACAAGG -3'

Sequencing Primer
(F):5'- AGTACTAGCTTCTCACAGGGTAGC -3'
(R):5'- AAGGCGCCTTGGACCTTGATAG -3'

Posted On

2020-09-15