Mutagenetix > Incidental Mutation

Incidental Mutation 'R7122:Pole'

568644

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

045245-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110472968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000007296 (fasta)

Gene Model

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

AlphaFold

Q9WVF7

Predicted Effect

probably null
Transcript: ENSMUST00000007296

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080

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

Coding Region Coverage

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

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,561,275 (GRCm39)	E126V	probably benign	Het
Alg3	A	T	16: 20,426,602 (GRCm39)	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,059,503 (GRCm39)	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Aup1	A	G	6: 83,032,123 (GRCm39)	T97A	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 179,892,583 (GRCm39)	L249P	probably damaging	Het
Celsr3	A	G	9: 108,705,766 (GRCm39)	K750E	possibly damaging	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Csmd2	G	A	4: 128,343,020 (GRCm39)	V1471M		Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
E4f1	G	A	17: 24,663,808 (GRCm39)	Q569*	probably null	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw24	A	T	9: 109,430,328 (GRCm39)	C439S	probably benign	Het
Ftdc2	C	A	16: 58,458,140 (GRCm39)	A54S	probably benign	Het
Gmip	C	T	8: 70,270,452 (GRCm39)	P721S	probably benign	Het
Grip1	A	G	10: 119,871,279 (GRCm39)	I669V	possibly damaging	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Herc1	G	T	9: 66,307,056 (GRCm39)	A959S	possibly damaging	Het
Hic1	A	G	11: 75,060,056 (GRCm39)	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189 (GRCm39)	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,450,317 (GRCm39)	V69G	unknown	Het
Jak3	T	A	8: 72,138,601 (GRCm39)	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,665,757 (GRCm39)	V530I	probably damaging	Het
Kif22	G	A	7: 126,632,150 (GRCm39)	R345C	probably benign	Het
Klhl7	G	A	5: 24,343,433 (GRCm39)	E250K	probably damaging	Het
Klk1b4	A	G	7: 43,860,531 (GRCm39)	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Lhx5	T	A	5: 120,574,410 (GRCm39)	M238K	probably benign	Het
Lin28b	A	T	10: 45,345,244 (GRCm39)	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,214,070 (GRCm39)	R18*	probably null	Het
Myct1	C	A	10: 5,554,492 (GRCm39)	H120N	probably damaging	Het
Nek1	A	T	8: 61,559,829 (GRCm39)	D984V	probably benign	Het
Nfu1	A	T	6: 86,986,863 (GRCm39)		probably benign	Het
Nipsnap1	A	T	11: 4,833,366 (GRCm39)		probably null	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,477,377 (GRCm39)	M520K	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	A	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or2a5	T	C	6: 42,874,024 (GRCm39)	V213A	probably damaging	Het
Or52n5	T	C	7: 104,588,405 (GRCm39)	L224P	probably damaging	Het
Otogl	C	T	10: 107,702,515 (GRCm39)	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Plpp4	G	T	7: 128,981,207 (GRCm39)	V153F	unknown	Het
Plxna2	C	A	1: 194,326,876 (GRCm39)	S270*	probably null	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Ptpn21	C	T	12: 98,655,171 (GRCm39)	V599I	probably damaging	Het
Rab26	C	A	17: 24,749,652 (GRCm39)	R131L	probably damaging	Het
Raph1	A	T	1: 60,565,136 (GRCm39)	V117D	probably benign	Het
Sacs	T	C	14: 61,447,845 (GRCm39)	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,095,796 (GRCm39)	A262S	probably benign	Het
Sgf29	A	G	7: 126,271,221 (GRCm39)	D193G	probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Sipa1l1	T	C	12: 82,469,236 (GRCm39)	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,749,224 (GRCm39)	L31P	probably damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639 (GRCm39)	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318 (GRCm39)	R225*	probably null	Het
Suz12	T	A	11: 79,884,419 (GRCm39)	F92I	probably damaging	Het
Tmem114	C	A	16: 8,242,610 (GRCm39)		probably benign	Het
Tmem68	A	G	4: 3,564,107 (GRCm39)	V159A	probably benign	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trim45	A	G	3: 100,839,353 (GRCm39)	T752A	unknown	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,017,761 (GRCm39)	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,210,484 (GRCm39)	S442T	probably damaging	Het

Other mutations in Pole

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Pole	APN	5	110,451,431 (GRCm39)	splice site	probably benign
IGL00475:Pole	APN	5	110,438,962 (GRCm39)	nonsense	probably null
IGL00837:Pole	APN	5	110,449,875 (GRCm39)	missense	possibly damaging	0.91
IGL00976:Pole	APN	5	110,471,438 (GRCm39)	missense	probably benign	0.00
IGL01081:Pole	APN	5	110,485,106 (GRCm39)	missense	possibly damaging	0.92
IGL01503:Pole	APN	5	110,451,750 (GRCm39)	missense	probably damaging	1.00
IGL01640:Pole	APN	5	110,446,132 (GRCm39)	missense	probably null	0.08
IGL01987:Pole	APN	5	110,485,098 (GRCm39)	missense	probably benign	0.01
IGL02429:Pole	APN	5	110,447,666 (GRCm39)	missense	probably benign
IGL02733:Pole	APN	5	110,460,594 (GRCm39)	splice site	probably benign
IGL03102:Pole	APN	5	110,444,939 (GRCm39)	missense	probably damaging	1.00
IGL03157:Pole	APN	5	110,441,619 (GRCm39)	missense	probably benign
IGL03186:Pole	APN	5	110,447,786 (GRCm39)	critical splice donor site	probably null
IGL03271:Pole	APN	5	110,466,185 (GRCm39)	missense	probably benign
IGL03351:Pole	APN	5	110,449,864 (GRCm39)	splice site	probably benign
IGL03408:Pole	APN	5	110,442,426 (GRCm39)	missense	probably damaging	1.00
IGL03410:Pole	APN	5	110,472,425 (GRCm39)	missense	probably benign
ANU74:Pole	UTSW	5	110,437,236 (GRCm39)	missense	probably benign	0.44
PIT4495001:Pole	UTSW	5	110,451,780 (GRCm39)	missense	probably damaging	1.00
R0053:Pole	UTSW	5	110,441,206 (GRCm39)	missense	probably damaging	1.00
R0053:Pole	UTSW	5	110,441,206 (GRCm39)	missense	probably damaging	1.00
R0124:Pole	UTSW	5	110,451,858 (GRCm39)	missense	probably damaging	0.96
R0145:Pole	UTSW	5	110,472,291 (GRCm39)	missense	probably damaging	0.99
R0523:Pole	UTSW	5	110,451,459 (GRCm39)	missense	probably damaging	0.96
R0590:Pole	UTSW	5	110,465,792 (GRCm39)	missense	probably benign
R0625:Pole	UTSW	5	110,473,416 (GRCm39)	missense	possibly damaging	0.50
R0707:Pole	UTSW	5	110,446,854 (GRCm39)	missense	probably damaging	1.00
R1160:Pole	UTSW	5	110,443,119 (GRCm39)	missense	possibly damaging	0.85
R1320:Pole	UTSW	5	110,456,995 (GRCm39)	frame shift	probably null
R1384:Pole	UTSW	5	110,471,530 (GRCm39)	missense	possibly damaging	0.81
R1626:Pole	UTSW	5	110,441,235 (GRCm39)	missense	probably benign	0.25
R1643:Pole	UTSW	5	110,465,711 (GRCm39)	missense	probably damaging	1.00
R1655:Pole	UTSW	5	110,483,788 (GRCm39)	missense	probably damaging	1.00
R1668:Pole	UTSW	5	110,445,235 (GRCm39)	missense	probably damaging	1.00
R1783:Pole	UTSW	5	110,445,296 (GRCm39)	missense	probably damaging	1.00
R1843:Pole	UTSW	5	110,478,701 (GRCm39)	critical splice donor site	probably null
R1853:Pole	UTSW	5	110,454,719 (GRCm39)	missense	possibly damaging	0.95
R1867:Pole	UTSW	5	110,482,063 (GRCm39)	missense	probably benign	0.08
R1874:Pole	UTSW	5	110,471,530 (GRCm39)	missense	possibly damaging	0.81
R1891:Pole	UTSW	5	110,480,408 (GRCm39)	missense	probably damaging	1.00
R1928:Pole	UTSW	5	110,475,644 (GRCm39)	missense	probably benign
R2073:Pole	UTSW	5	110,473,417 (GRCm39)	missense	probably damaging	0.99
R2341:Pole	UTSW	5	110,478,829 (GRCm39)	missense	possibly damaging	0.67
R2448:Pole	UTSW	5	110,444,958 (GRCm39)	missense	probably damaging	1.00
R2504:Pole	UTSW	5	110,438,368 (GRCm39)	splice site	probably null
R3053:Pole	UTSW	5	110,437,661 (GRCm39)	missense	probably damaging	1.00
R3892:Pole	UTSW	5	110,484,305 (GRCm39)	missense	probably damaging	1.00
R3964:Pole	UTSW	5	110,460,648 (GRCm39)	missense	probably damaging	1.00
R3965:Pole	UTSW	5	110,460,648 (GRCm39)	missense	probably damaging	1.00
R4374:Pole	UTSW	5	110,485,071 (GRCm39)	missense	possibly damaging	0.89
R4376:Pole	UTSW	5	110,485,071 (GRCm39)	missense	possibly damaging	0.89
R4377:Pole	UTSW	5	110,485,071 (GRCm39)	missense	possibly damaging	0.89
R4520:Pole	UTSW	5	110,445,790 (GRCm39)	missense	probably damaging	1.00
R4670:Pole	UTSW	5	110,454,253 (GRCm39)	missense	probably benign	0.01
R4778:Pole	UTSW	5	110,478,698 (GRCm39)	missense	probably benign	0.00
R4887:Pole	UTSW	5	110,472,619 (GRCm39)	missense	probably damaging	0.99
R4898:Pole	UTSW	5	110,438,090 (GRCm39)	critical splice acceptor site	probably null
R5184:Pole	UTSW	5	110,442,800 (GRCm39)	missense	possibly damaging	0.91
R5359:Pole	UTSW	5	110,480,354 (GRCm39)	missense	probably benign	0.03
R5483:Pole	UTSW	5	110,442,434 (GRCm39)	missense	probably damaging	1.00
R5529:Pole	UTSW	5	110,480,332 (GRCm39)	missense	probably benign	0.20
R5576:Pole	UTSW	5	110,459,931 (GRCm39)	nonsense	probably null
R5817:Pole	UTSW	5	110,460,838 (GRCm39)	missense	probably damaging	1.00
R5877:Pole	UTSW	5	110,480,329 (GRCm39)	missense	probably benign
R5956:Pole	UTSW	5	110,485,153 (GRCm39)	unclassified	probably benign
R5990:Pole	UTSW	5	110,450,010 (GRCm39)	missense	probably damaging	1.00
R6019:Pole	UTSW	5	110,472,381 (GRCm39)	missense	probably benign	0.01
R6019:Pole	UTSW	5	110,472,380 (GRCm39)	missense	probably benign	0.01
R6093:Pole	UTSW	5	110,459,956 (GRCm39)	missense	probably benign	0.01
R6376:Pole	UTSW	5	110,484,240 (GRCm39)	missense	probably damaging	0.99
R6494:Pole	UTSW	5	110,472,588 (GRCm39)	missense	possibly damaging	0.86
R6535:Pole	UTSW	5	110,472,673 (GRCm39)	missense	probably damaging	1.00
R6723:Pole	UTSW	5	110,471,482 (GRCm39)	missense	probably benign	0.11
R6757:Pole	UTSW	5	110,451,476 (GRCm39)	missense	probably damaging	1.00
R6930:Pole	UTSW	5	110,441,156 (GRCm39)	missense	probably benign	0.01
R6988:Pole	UTSW	5	110,477,449 (GRCm39)	missense	probably damaging	0.97
R6992:Pole	UTSW	5	110,480,365 (GRCm39)	missense	probably damaging	0.99
R7067:Pole	UTSW	5	110,482,084 (GRCm39)	missense	probably damaging	1.00
R7097:Pole	UTSW	5	110,472,968 (GRCm39)	splice site	probably null
R7202:Pole	UTSW	5	110,444,973 (GRCm39)	missense	possibly damaging	0.94
R7340:Pole	UTSW	5	110,482,330 (GRCm39)	missense	probably benign	0.06
R7345:Pole	UTSW	5	110,451,769 (GRCm39)	missense	possibly damaging	0.82
R7509:Pole	UTSW	5	110,478,571 (GRCm39)	start gained	probably benign
R7557:Pole	UTSW	5	110,460,860 (GRCm39)	missense	probably damaging	1.00
R7740:Pole	UTSW	5	110,478,907 (GRCm39)	missense	probably benign	0.00
R7792:Pole	UTSW	5	110,445,332 (GRCm39)	splice site	probably null
R7832:Pole	UTSW	5	110,465,663 (GRCm39)	missense	probably benign	0.00
R7849:Pole	UTSW	5	110,480,414 (GRCm39)	missense	probably benign	0.04
R7852:Pole	UTSW	5	110,454,695 (GRCm39)	missense	probably damaging	1.00
R7960:Pole	UTSW	5	110,437,727 (GRCm39)	missense	possibly damaging	0.81
R8001:Pole	UTSW	5	110,460,600 (GRCm39)	missense	probably damaging	1.00
R8266:Pole	UTSW	5	110,442,786 (GRCm39)	missense	probably damaging	1.00
R8510:Pole	UTSW	5	110,482,312 (GRCm39)	missense	probably damaging	0.99
R8793:Pole	UTSW	5	110,445,614 (GRCm39)	missense	probably damaging	1.00
R8835:Pole	UTSW	5	110,454,775 (GRCm39)	missense	probably damaging	1.00
R8863:Pole	UTSW	5	110,437,233 (GRCm39)	missense	possibly damaging	0.94
R8929:Pole	UTSW	5	110,445,654 (GRCm39)	missense	probably damaging	0.98
R8968:Pole	UTSW	5	110,459,949 (GRCm39)	missense	possibly damaging	0.78
R8992:Pole	UTSW	5	110,471,488 (GRCm39)	missense	possibly damaging	0.88
R9018:Pole	UTSW	5	110,437,675 (GRCm39)	missense	probably benign	0.37
R9177:Pole	UTSW	5	110,480,288 (GRCm39)	missense	probably benign	0.04
R9250:Pole	UTSW	5	110,447,687 (GRCm39)	missense	possibly damaging	0.88
R9262:Pole	UTSW	5	110,473,423 (GRCm39)	missense	probably damaging	1.00
R9262:Pole	UTSW	5	110,473,422 (GRCm39)	missense	probably damaging	0.99
R9367:Pole	UTSW	5	110,444,955 (GRCm39)	missense	probably damaging	0.99
R9383:Pole	UTSW	5	110,438,892 (GRCm39)	missense	possibly damaging	0.61
R9626:Pole	UTSW	5	110,459,959 (GRCm39)	missense	possibly damaging	0.68
R9676:Pole	UTSW	5	110,443,431 (GRCm39)	missense	probably benign	0.00
R9720:Pole	UTSW	5	110,484,909 (GRCm39)	missense	probably benign	0.01
R9787:Pole	UTSW	5	110,465,866 (GRCm39)	critical splice donor site	probably null
R9794:Pole	UTSW	5	110,466,201 (GRCm39)	missense	probably benign	0.01
X0064:Pole	UTSW	5	110,465,770 (GRCm39)	nonsense	probably null
Y5377:Pole	UTSW	5	110,442,757 (GRCm39)	critical splice acceptor site	probably null
Y5380:Pole	UTSW	5	110,442,757 (GRCm39)	critical splice acceptor site	probably null
Z1088:Pole	UTSW	5	110,475,731 (GRCm39)	missense	possibly damaging	0.66
Z1177:Pole	UTSW	5	110,444,875 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCCTTTGAGATGAGCAG -3'
(R):5'- ACTATTGATCTCCACAGTGGCTC -3'

Sequencing Primer
(F):5'- TGTAGCTCAGTAGTAGAAGTTAGC -3'
(R):5'- AGTGGCTCGGTCATCAAACTC -3'

Posted On

2019-09-05