Mutagenetix > Incidental Mutation

Incidental Mutation 'R6988:Pole'

543076

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110286306-110337474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110329583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1863 (V1863F)

Ref Sequence

ENSEMBL: ENSMUSP00000007296 (fasta)

Gene Model

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

AlphaFold

Q9WVF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000007296
AA Change: V1863F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: V1863F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579 (GRCm38)	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756 (GRCm38)	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899 (GRCm38)	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445 (GRCm38)	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237 (GRCm38)	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758 (GRCm38)		probably benign	Het
Ankrd31	T	A	13: 96,878,249 (GRCm38)	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125 (GRCm38)	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923 (GRCm38)	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187 (GRCm38)	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434 (GRCm38)	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830 (GRCm38)	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709 (GRCm38)	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885 (GRCm38)	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908 (GRCm38)	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406 (GRCm38)	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454 (GRCm38)	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625 (GRCm38)	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213 (GRCm38)	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275 (GRCm38)	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210 (GRCm38)	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966 (GRCm38)	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091 (GRCm38)	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508 (GRCm38)		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965 (GRCm38)	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271 (GRCm38)	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325 (GRCm38)	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592 (GRCm38)	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890 (GRCm38)	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763 (GRCm38)	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585 (GRCm38)	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809 (GRCm38)		probably benign	Het
Mrpl15	T	C	1: 4,782,660 (GRCm38)	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189 (GRCm38)	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806 (GRCm38)	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673 (GRCm38)	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409 (GRCm38)	F100L	probably damaging	Het
Pramel5	T	C	4: 144,274,007 (GRCm38)		probably benign	Het
Rabep1	A	G	11: 70,934,537 (GRCm38)	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635 (GRCm38)	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636 (GRCm38)	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257 (GRCm38)	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290 (GRCm38)	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935 (GRCm38)	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597 (GRCm38)	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809 (GRCm38)	R885L	probably benign	Het
Synm	G	A	7: 67,733,658 (GRCm38)	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644 (GRCm38)	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443 (GRCm38)	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900 (GRCm38)	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148 (GRCm38)	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338 (GRCm38)	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143 (GRCm38)	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847 (GRCm38)	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511 (GRCm38)	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716 (GRCm38)	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868 (GRCm38)	M793T	probably benign	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
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
R7960:Pole	UTSW	5	110,289,861 (GRCm38)	missense	possibly damaging	0.81
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'- TGCTCATTCTAAGCATAGTTGGG -3'
(R):5'- ACCCTGGGTGTGATTTCTTC -3'

Sequencing Primer
(F):5'- CATCAGATCCCATGACAGGTAGTTG -3'
(R):5'- ACCCTGGGTGTGATTTCTTCATCAG -3'

Posted On

2018-11-28