Mutagenetix > Incidental Mutation

Incidental Mutation 'R4778:Pole'

426212

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

042414-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110478698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 15 (H15Q)

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
AA Change: H15Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108100
Gene: ENSMUSG00000007080
AA Change: H15Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157097

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,615,342 (GRCm39)	N1349S	probably damaging	Het
Ahnak	T	C	19: 8,989,339 (GRCm39)	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,231,518 (GRCm39)	T156S	probably benign	Het
Bltp1	T	A	3: 36,991,214 (GRCm39)	M897K	possibly damaging	Het
Card11	G	T	5: 140,869,537 (GRCm39)		probably null	Het
Cdh3	T	A	8: 107,270,458 (GRCm39)	I445N	probably damaging	Het
Csrp3	T	G	7: 48,482,311 (GRCm39)	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Czib	T	C	4: 107,749,195 (GRCm39)	V64A	probably damaging	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Erc1	A	T	6: 119,774,298 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,491,363 (GRCm39)	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,323,714 (GRCm39)	D87G	probably damaging	Het
Gm1123	T	C	9: 98,900,560 (GRCm39)	I99V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hand1	T	C	11: 57,722,449 (GRCm39)	D55G	possibly damaging	Het
Lrguk	T	A	6: 34,033,015 (GRCm39)	I227K	probably damaging	Het
Mdn1	C	T	4: 32,683,583 (GRCm39)	R726*	probably null	Het
Minar1	T	A	9: 89,485,155 (GRCm39)	I81F	probably damaging	Het
Myo16	T	A	8: 10,619,694 (GRCm39)	V1415E	probably damaging	Het
Myof	T	C	19: 37,938,011 (GRCm39)	D901G	probably damaging	Het
Naip1	A	G	13: 100,563,156 (GRCm39)	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,638,924 (GRCm39)	Y171*	probably null	Het
Notch4	C	T	17: 34,801,485 (GRCm39)	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,640,748 (GRCm39)	D1038E	probably benign	Het
Or2ag1b	A	C	7: 106,288,874 (GRCm39)	S21R	probably damaging	Het
Or5p60	A	T	7: 107,723,687 (GRCm39)	I261N	possibly damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,608,893 (GRCm39)	G252R	probably damaging	Het
Pstpip1	A	G	9: 56,035,904 (GRCm39)	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,426,883 (GRCm39)	T1551A	probably benign	Het
Rasgrf2	A	G	13: 92,131,780 (GRCm39)	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,871 (GRCm39)	N394K	possibly damaging	Het
Rpl7-ps8	T	A	15: 59,083,252 (GRCm39)		noncoding transcript	Het
Rpp14	T	A	14: 8,090,203 (GRCm38)	D42E	probably benign	Het
Rrp8	T	A	7: 105,386,481 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Snx1	T	C	9: 66,008,698 (GRCm39)		probably benign	Het
Stau1	A	T	2: 166,805,442 (GRCm39)	N51K	probably benign	Het
Tdrd5	T	A	1: 156,083,157 (GRCm39)	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468 (GRCm39)	D750G	probably damaging	Het
Tmem43	T	C	6: 91,459,237 (GRCm39)	V236A	probably damaging	Het
Tmem89	T	C	9: 108,744,443 (GRCm39)	V112A	probably damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Vmn1r41	A	C	6: 89,724,257 (GRCm39)	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,592,801 (GRCm39)	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,488,600 (GRCm39)	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,622,112 (GRCm39)	S346T	probably benign	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
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'- CTTAGCTAGGAATGGTACCAATGAAG -3'
(R):5'- TCCATCCAGAGAAGGAATTCCC -3'

Sequencing Primer
(F):5'- CTTACAGTGCTTAAAAACAGGAAGC -3'
(R):5'- GGAATTCCCAGCATCGAGAG -3'

Posted On

2016-08-25