Mutagenetix > Incidental Mutation

Incidental Mutation 'R0707:Pole'

63163

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

038890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0707 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110446854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 631 (Y631H)

Ref Sequence

ENSEMBL: ENSMUSP00000007296 (fasta)

Gene Model

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

AlphaFold

Q9WVF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000007296
AA Change: Y631H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: Y631H

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

noncoding transcript
Transcript: ENSMUST00000131887

Meta Mutation Damage Score

0.9004

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,617,329 (GRCm39)	F259S	probably damaging	Het
Aldh16a1	T	A	7: 44,793,931 (GRCm39)		probably benign	Het
Ankrd24	A	T	10: 81,478,547 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,564,951 (GRCm39)	S641P	probably damaging	Het
Arpp21	A	C	9: 111,986,824 (GRCm39)	S242R	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Bud31	A	G	5: 145,083,265 (GRCm39)	Y77C	probably damaging	Het
Ccdc65	G	A	15: 98,607,095 (GRCm39)	V101I	possibly damaging	Het
Ccr7	T	A	11: 99,036,809 (GRCm39)	T38S	probably damaging	Het
Cdc14a	T	C	3: 116,087,362 (GRCm39)		probably benign	Het
Ces2f	C	T	8: 105,677,618 (GRCm39)	H208Y	possibly damaging	Het
Chst1	C	A	2: 92,443,964 (GRCm39)	N145K	possibly damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cog6	C	T	3: 52,921,283 (GRCm39)	V108I	possibly damaging	Het
Cplane1	T	A	15: 8,287,805 (GRCm39)	N2881K	unknown	Het
Crtc2	T	A	3: 90,170,804 (GRCm39)	F626I	probably damaging	Het
Dicer1	A	T	12: 104,673,144 (GRCm39)	F792I	probably damaging	Het
Dnajc13	T	C	9: 104,049,781 (GRCm39)	K1780R	probably benign	Het
Dph5	A	C	3: 115,708,782 (GRCm39)	N155H	probably benign	Het
Dscam	T	C	16: 96,626,982 (GRCm39)		probably null	Het
Etl4	C	A	2: 20,810,382 (GRCm39)		probably benign	Het
Flt3l	T	C	7: 44,785,450 (GRCm39)	S9G	probably benign	Het
Fmnl2	A	G	2: 52,944,498 (GRCm39)	E159G	possibly damaging	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Herc6	G	A	6: 57,639,347 (GRCm39)	G905E	possibly damaging	Het
Hhip	T	A	8: 80,724,884 (GRCm39)	N296I	probably damaging	Het
Hmgcr	A	T	13: 96,787,151 (GRCm39)		probably benign	Het
Kalrn	T	G	16: 33,830,951 (GRCm39)	N723H	possibly damaging	Het
Mroh5	T	A	15: 73,662,588 (GRCm39)	Y242F	possibly damaging	Het
Msh3	T	A	13: 92,483,848 (GRCm39)	K258*	probably null	Het
Myo1a	T	C	10: 127,555,732 (GRCm39)		probably benign	Het
Nlrp4f	C	T	13: 65,342,317 (GRCm39)	E443K	probably benign	Het
Nupr2	A	G	5: 129,937,533 (GRCm39)	Y34C	probably damaging	Het
Ociad1	T	C	5: 73,452,255 (GRCm39)		probably benign	Het
Or1af1	A	T	2: 37,110,208 (GRCm39)	K236*	probably null	Het
Or5af2	T	A	11: 58,708,577 (GRCm39)	L248M	probably damaging	Het
Or5b3	A	T	19: 13,388,784 (GRCm39)	M284L	probably benign	Het
Or5p5	A	G	7: 107,414,331 (GRCm39)	D182G	probably damaging	Het
Or6ae1	T	C	7: 139,742,002 (GRCm39)	N287S	probably damaging	Het
P2ry12	C	A	3: 59,124,908 (GRCm39)	V256F	probably damaging	Het
Pcdhb22	T	A	18: 37,651,904 (GRCm39)	I124N	probably damaging	Het
Pcnt	A	G	10: 76,256,375 (GRCm39)	F622L	probably damaging	Het
Pfas	A	T	11: 68,888,863 (GRCm39)	N361K	probably benign	Het
Plod2	T	G	9: 92,487,480 (GRCm39)	L600V	possibly damaging	Het
Proser1	T	C	3: 53,386,197 (GRCm39)	L693P	probably damaging	Het
Ptprd	A	G	4: 75,875,476 (GRCm39)	Y1195H	probably damaging	Het
Rbm27	T	A	18: 42,459,091 (GRCm39)		probably null	Het
Ric8a	A	G	7: 140,437,886 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rimkla	C	T	4: 119,335,177 (GRCm39)	V69M	probably damaging	Het
Scfd1	A	T	12: 51,459,360 (GRCm39)	K307M	probably damaging	Het
Sh2b2	A	G	5: 136,261,117 (GRCm39)	F33S	probably damaging	Het
Smg7	T	G	1: 152,746,508 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Strn3	G	A	12: 51,657,187 (GRCm39)	T642I	probably damaging	Het
Syne2	T	C	12: 76,028,837 (GRCm39)		probably null	Het
Syne3	A	G	12: 104,935,619 (GRCm39)	L53P	probably damaging	Het
Tcea1	T	A	1: 4,950,569 (GRCm39)		probably benign	Het
Tmem30b	T	C	12: 73,592,942 (GRCm39)	N58D	probably benign	Het
Tnpo1	A	G	13: 98,991,954 (GRCm39)	Y641H	probably damaging	Het
Trim25	A	T	11: 88,890,564 (GRCm39)	T84S	probably benign	Het
Trip4	A	T	9: 65,746,286 (GRCm39)	F537I	possibly damaging	Het
Uaca	G	A	9: 60,755,900 (GRCm39)		probably benign	Het
Ugt2b34	T	A	5: 87,040,758 (GRCm39)	Y388F	possibly damaging	Het
Vmn2r71	T	C	7: 85,268,640 (GRCm39)	V281A	probably benign	Het
Vps13d	A	T	4: 144,882,502 (GRCm39)	D1030E	probably damaging	Het
Vps8	C	A	16: 21,261,107 (GRCm39)	F82L	probably damaging	Het
Zfp296	A	G	7: 19,313,661 (GRCm39)	D172G	probably benign	Het
Zfp977	C	A	7: 42,229,958 (GRCm39)	C189F	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
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
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'- TGCACCTAGTTCTTATGTTGGCACC -3'
(R):5'- GTGATGGGACAGGTTCCAAGTTCAG -3'

Sequencing Primer
(F):5'- GTTGGCACCAACATCCCTTTG -3'
(R):5'- CCAAGTTCAGAGTCTAGGTCTGTC -3'

Posted On

2013-07-30