Mutagenetix > Incidental Mutation

Incidental Mutation 'R9262:Pole'

702306

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9262 (G1)

Quality Score

151.008

Status

Not validated

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110473422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 1739 (L1739I)

Ref Sequence

ENSEMBL: ENSMUSP00000007296 (fasta)

Gene Model

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

AlphaFold

Q9WVF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000007296
AA Change: L1739I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: L1739I

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,443,375 (GRCm39)	H192L	unknown	Het
Abca4	T	A	3: 121,964,639 (GRCm39)	C2149S	probably damaging	Het
Abl2	G	A	1: 156,469,820 (GRCm39)	G1028D	possibly damaging	Het
Adgre1	A	G	17: 57,754,941 (GRCm39)	T680A	probably damaging	Het
Amn	G	A	12: 111,237,585 (GRCm39)	W10*	probably null	Het
Ankhd1	G	T	18: 36,765,799 (GRCm39)	V140F		Het
Asnsd1	A	T	1: 53,383,934 (GRCm39)	N613K	probably benign	Het
Bbs2	A	T	8: 94,807,543 (GRCm39)	I417N	probably damaging	Het
Cad	T	A	5: 31,225,009 (GRCm39)	W971R	probably null	Het
Cand2	A	T	6: 115,759,730 (GRCm39)	I134F	probably benign	Het
Ccdc154	C	A	17: 25,389,160 (GRCm39)	H453N	probably damaging	Het
Ccdc168	A	G	1: 44,096,269 (GRCm39)	S1610P	possibly damaging	Het
Ccdc7a	T	A	8: 129,486,277 (GRCm39)	H1601L	possibly damaging	Het
Ccdc9	A	C	7: 16,012,400 (GRCm39)	S261A	probably benign	Het
Cdkl3	T	A	11: 51,916,702 (GRCm39)	S277T	probably benign	Het
Cipc	T	A	12: 86,999,497 (GRCm39)	Y8*	probably null	Het
Cramp1	A	G	17: 25,232,920 (GRCm39)	S27P	probably damaging	Het
Csf1r	A	T	18: 61,243,406 (GRCm39)	M141L	probably benign	Het
Csf2rb2	G	T	15: 78,168,535 (GRCm39)	F873L	probably damaging	Het
Dchs1	G	A	7: 105,404,833 (GRCm39)	R2570W	probably damaging	Het
Dmxl1	A	T	18: 49,976,919 (GRCm39)	N94Y	probably benign	Het
Dnajc10	A	G	2: 80,176,965 (GRCm39)	K640R	probably benign	Het
Epha8	A	C	4: 136,658,995 (GRCm39)	H886Q	probably benign	Het
Fcgbp	G	C	7: 27,819,952 (GRCm39)	D2560H	probably damaging	Het
Fry	T	G	5: 150,305,109 (GRCm39)	F605V	probably damaging	Het
Fsip2	A	G	2: 82,807,662 (GRCm39)	N1327S	probably benign	Het
Gm12117	T	C	11: 33,226,001 (GRCm39)	T112A	probably benign	Het
Gm3604	A	T	13: 62,517,697 (GRCm39)	N220K	probably damaging	Het
Gm572	T	C	4: 148,735,652 (GRCm39)	V27A	probably benign	Het
Gpr39	A	G	1: 125,800,524 (GRCm39)	K425R	probably benign	Het
Heatr3	A	G	8: 88,883,097 (GRCm39)	D349G	probably benign	Het
Hip1	A	G	5: 135,478,541 (GRCm39)	S248P	probably damaging	Het
Itga11	A	G	9: 62,659,678 (GRCm39)		probably benign	Het
Itga3	C	T	11: 94,956,625 (GRCm39)	V210I	probably benign	Het
Jmjd1c	T	C	10: 67,083,793 (GRCm39)	I2173T	probably benign	Het
Klf13	G	A	7: 63,574,456 (GRCm39)	Q21*	probably null	Het
Kmt2a	A	T	9: 44,731,222 (GRCm39)	S3032T	probably benign	Het
Krt34	T	C	11: 99,930,851 (GRCm39)	R184G	probably benign	Het
Krtap16-1	T	C	11: 99,876,994 (GRCm39)	T137A	probably benign	Het
Ldc1	A	G	4: 130,114,153 (GRCm39)	V88A	possibly damaging	Het
Mgam	T	C	6: 40,723,422 (GRCm39)		probably null	Het
Mog	T	C	17: 37,325,648 (GRCm39)	T196A	possibly damaging	Het
Ms4a6d	T	C	19: 11,579,216 (GRCm39)	Y87C	possibly damaging	Het
Ndrg4	C	T	8: 96,435,812 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,394,871 (GRCm39)	M927K	possibly damaging	Het
Or11l3	T	A	11: 58,516,282 (GRCm39)	M197L	probably benign	Het
Or4a73	G	T	2: 89,421,435 (GRCm39)	T8K	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcdhac2	A	G	18: 37,279,095 (GRCm39)	R692G	possibly damaging	Het
Pcsk4	T	A	10: 80,160,864 (GRCm39)	S321C	probably damaging	Het
Pi4ka	A	G	16: 17,120,859 (GRCm39)	F1292L		Het
Pigv	G	T	4: 133,397,110 (GRCm39)	P6Q	possibly damaging	Het
Pkhd1	A	C	1: 20,618,351 (GRCm39)	S927A	probably benign	Het
Pnpla3	A	T	15: 84,055,363 (GRCm39)	I90F	probably benign	Het
Rbm12	A	T	2: 155,939,317 (GRCm39)	N318K	possibly damaging	Het
Rpl18a	A	T	8: 71,348,179 (GRCm39)	L168Q	probably benign	Het
Ryr2	T	C	13: 11,765,854 (GRCm39)	N1294S	probably damaging	Het
Sema5b	T	C	16: 35,453,223 (GRCm39)	L98P	possibly damaging	Het
Slco1a8	G	T	6: 141,926,594 (GRCm39)	F597L	probably damaging	Het
Smg7	A	G	1: 152,721,262 (GRCm39)	V650A	probably damaging	Het
Spata31d1e	T	C	13: 59,890,402 (GRCm39)	M473V	probably benign	Het
Strada	C	T	11: 106,075,444 (GRCm39)	R13Q	probably damaging	Het
Sun1	T	C	5: 139,200,918 (GRCm39)	S37P	unknown	Het
Syce1l	T	C	8: 114,380,738 (GRCm39)		probably null	Het
Tdg	T	A	10: 82,480,507 (GRCm39)	F263L	probably damaging	Het
Tead3	G	T	17: 28,560,495 (GRCm39)	S36R	probably benign	Het
Timm44	A	G	8: 4,310,621 (GRCm39)	L377P	probably damaging	Het
Tk1	C	T	11: 117,716,581 (GRCm39)	V9M	probably benign	Het
Trim36	A	G	18: 46,300,506 (GRCm39)	Y722H	probably benign	Het
Ttn	A	T	2: 76,640,232 (GRCm39)	M13792K	possibly damaging	Het
Unc80	A	G	1: 66,594,411 (GRCm39)		probably benign	Het
Usp46	G	T	5: 74,189,965 (GRCm39)	A133E	probably benign	Het
Wnk2	T	A	13: 49,221,430 (GRCm39)	R1240S	probably benign	Het
Zfp821	G	A	8: 110,450,982 (GRCm39)	R325Q	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
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
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'- TCTTCTGCTCAACCATGTGG -3'
(R):5'- ATGACGGCAGATACCTGAAG -3'

Sequencing Primer
(F):5'- CTTCTGCTCAACCATGTGGAAGAAG -3'
(R):5'- CCTGAAGGTACTAGAGCAGAGG -3'

Posted On

2022-03-25