Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Pole'

581946

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

045582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 110478571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000112481]

AlphaFold

Q9WVF7

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000112481

SMART Domains

Protein: ENSMUSP00000108100
Gene: ENSMUSG00000007080

Domain	Start	End	E-Value	Type
Pfam:DUF1744	13	48	2.7e-13	PFAM
coiled coil region	60	87	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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
Acsm5	A	G	7: 119,133,611 (GRCm39)	S259G	probably benign	Het
Adamts16	G	T	13: 70,935,283 (GRCm39)	N436K	probably damaging	Het
Asb3	T	A	11: 30,948,507 (GRCm39)	M61K	probably benign	Het
Catspere2	A	G	1: 177,905,078 (GRCm39)	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,660,602 (GRCm39)	L517P	probably damaging	Het
Cd226	A	G	18: 89,265,195 (GRCm39)	T158A	probably benign	Het
Chd6	A	T	2: 160,855,074 (GRCm39)	I778N	probably damaging	Het
Cnga4	T	C	7: 105,056,097 (GRCm39)	V336A	probably benign	Het
Cpd	C	T	11: 76,688,702 (GRCm39)	V857I	probably benign	Het
Cpm	A	G	10: 117,495,745 (GRCm39)	Y78C	probably damaging	Het
Cst7	A	T	2: 150,419,624 (GRCm39)	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 104,940,046 (GRCm39)	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,289,739 (GRCm39)	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,329,496 (GRCm39)	S685P	probably damaging	Het
Fam110d	A	C	4: 133,979,424 (GRCm39)	V18G	probably damaging	Het
Gcfc2	T	C	6: 81,930,256 (GRCm39)	L641P	probably damaging	Het
Gcnt4	T	A	13: 97,083,678 (GRCm39)	F325I	probably benign	Het
Glg1	T	G	8: 111,985,675 (GRCm39)	S52R	probably benign	Het
Gm10577	G	A	4: 100,877,848 (GRCm39)	L16F	unknown	Het
Gm14326	C	T	2: 177,587,493 (GRCm39)	G501D	probably benign	Het
Gm1587	G	A	14: 78,034,464 (GRCm39)	P35S	unknown	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Helb	T	A	10: 119,925,719 (GRCm39)	H886L	probably damaging	Het
Hgsnat	A	G	8: 26,445,754 (GRCm39)	V380A	probably damaging	Het
Hmbs	T	A	9: 44,248,208 (GRCm39)	R125S		Het
Hsd17b4	A	T	18: 50,297,749 (GRCm39)	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,426,911 (GRCm39)	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Itga11	C	T	9: 62,689,222 (GRCm39)	T1129I	probably benign	Het
Itih4	G	A	14: 30,617,404 (GRCm39)	V575I	probably benign	Het
Kcnn2	A	G	18: 45,816,187 (GRCm39)	T473A	probably benign	Het
Kidins220	T	C	12: 25,032,360 (GRCm39)	V31A	probably damaging	Het
Lrch1	G	A	14: 75,185,048 (GRCm39)	T18I	probably benign	Het
Ly6e	T	C	15: 74,830,135 (GRCm39)	F30L	probably damaging	Het
Med13l	A	G	5: 118,886,995 (GRCm39)	D1632G	probably damaging	Het
Mei4	T	A	9: 81,907,630 (GRCm39)	L320Q	probably damaging	Het
Mlip	T	G	9: 77,088,678 (GRCm39)	T197P	probably damaging	Het
Mon2	G	A	10: 122,868,457 (GRCm39)	A532V	probably benign	Het
Myh1	C	T	11: 67,101,287 (GRCm39)	P688S	probably benign	Het
Ncapg	G	A	5: 45,853,450 (GRCm39)	D900N	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Ntn4	A	G	10: 93,546,430 (GRCm39)	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,757,082 (GRCm39)	H26Q	probably damaging	Het
Obscn	G	A	11: 58,942,455 (GRCm39)	T4348I	probably benign	Het
Or10d4b	T	A	9: 39,534,623 (GRCm39)	I66N	probably damaging	Het
Or8c20	T	A	9: 38,260,868 (GRCm39)	M157K	probably benign	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,475,074 (GRCm39)	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,910 (GRCm39)	Y454*	probably null	Het
Pigc	A	T	1: 161,798,545 (GRCm39)	T176S	probably benign	Het
Pola2	A	T	19: 6,011,194 (GRCm39)	S43R	probably benign	Het
Polq	C	A	16: 36,880,705 (GRCm39)	D956E	probably benign	Het
Polq	T	A	16: 36,880,706 (GRCm39)	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,504,131 (GRCm39)	T107I	probably damaging	Het
Prss39	C	A	1: 34,539,280 (GRCm39)	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,785,928 (GRCm39)	D256G	probably benign	Het
Rfc3	A	G	5: 151,570,975 (GRCm39)	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,003,981 (GRCm39)	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Strada	C	A	11: 106,077,920 (GRCm39)	V15F	unknown	Het
Suco	A	T	1: 161,672,903 (GRCm39)	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683 (GRCm39)	C1595S	probably benign	Het
Synpo	G	T	18: 60,736,566 (GRCm39)	T460K	probably damaging	Het
Tagap	A	T	17: 8,147,568 (GRCm39)	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,301,956 (GRCm39)	F331Y	probably damaging	Het
Tnpo1	A	C	13: 99,006,751 (GRCm39)	I225M	probably benign	Het
Tollip	A	T	7: 141,445,878 (GRCm39)	M70K	probably benign	Het
Trpm7	A	T	2: 126,691,842 (GRCm39)	I171N	probably damaging	Het
Ttc41	G	T	10: 86,549,296 (GRCm39)	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,362,382 (GRCm39)	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,231,842 (GRCm39)	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,802,995 (GRCm39)	E302K	probably benign	Het
Vwf	T	C	6: 125,619,132 (GRCm39)	F1270S		Het
Wdr3	A	T	3: 100,058,503 (GRCm39)	F367L	probably benign	Het
Zfp592	A	G	7: 80,688,088 (GRCm39)	S1005G	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
R7122: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
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'- ACTCCAGTTCTGGTAGAGGAG -3'
(R):5'- AAGTGACGCAGGAGTTTTCC -3'

Sequencing Primer
(F):5'- TGGTCTACAGAGTGAGCTCCAG -3'
(R):5'- GGAGTTTTCCTTGTTCCTCCC -3'

Posted On

2019-10-17