Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03410:Pole'

421749

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110472425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1563 (I1563V)

Ref Sequence

ENSEMBL: ENSMUSP00000007296 (fasta)

Gene Model

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

AlphaFold

Q9WVF7

Predicted Effect

probably benign
Transcript: ENSMUST00000007296
AA Change: I1563V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: I1563V

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: ENSMUST00000120365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157097

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,220,728 (GRCm39)	V409E	probably damaging	Het
1700086D15Rik	A	G	11: 65,043,393 (GRCm39)		probably benign	Het
Apba1	A	G	19: 23,914,945 (GRCm39)	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,476,238 (GRCm39)	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 105,010,501 (GRCm39)	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,340,900 (GRCm39)	V483A	probably benign	Het
Dclre1b	T	A	3: 103,715,456 (GRCm39)	D14V	probably damaging	Het
Dock5	T	C	14: 68,083,535 (GRCm39)	I125V	probably benign	Het
Dok3	G	T	13: 55,672,044 (GRCm39)	Y211*	probably null	Het
Fat4	T	C	3: 38,945,325 (GRCm39)	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,183,315 (GRCm39)	F1790S	possibly damaging	Het
Gm4787	A	T	12: 81,425,948 (GRCm39)	M70K	probably damaging	Het
Gulp1	A	T	1: 44,747,777 (GRCm39)	D10V	probably damaging	Het
Hagh	T	C	17: 25,079,916 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,956,789 (GRCm39)	E206G	probably damaging	Het
Hyou1	A	G	9: 44,299,355 (GRCm39)	E682G	probably benign	Het
Ift56	T	C	6: 38,362,435 (GRCm39)	L70P	probably damaging	Het
Igkv4-59	G	T	6: 69,415,450 (GRCm39)	A35E	probably damaging	Het
Krt78	A	G	15: 101,862,421 (GRCm39)	V80A	probably damaging	Het
Lars2	G	A	9: 123,247,841 (GRCm39)	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,515 (GRCm39)	R367W	probably damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,788,986 (GRCm39)		probably null	Het
Mmrn1	A	G	6: 60,952,819 (GRCm39)	I367V	probably benign	Het
Myo18a	T	C	11: 77,738,830 (GRCm39)	L1677P	probably damaging	Het
Neb	T	C	2: 52,209,717 (GRCm39)	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073 (GRCm38)	R155G	probably benign	Het
Nrip1	T	C	16: 76,089,379 (GRCm39)	N726S	probably benign	Het
Nyap2	A	G	1: 81,219,156 (GRCm39)	T393A	possibly damaging	Het
Oprm1	A	T	10: 6,780,051 (GRCm39)	I238F	probably damaging	Het
Or4b1b	A	G	2: 90,112,557 (GRCm39)	Y121H	probably damaging	Het
Or4b1d	G	A	2: 89,969,489 (GRCm39)		probably benign	Het
Or5m11b	T	A	2: 85,805,764 (GRCm39)	M59K	probably damaging	Het
Pcnx2	T	A	8: 126,613,779 (GRCm39)	E557D	probably damaging	Het
Pramel21	C	A	4: 143,341,851 (GRCm39)	H93Q	probably benign	Het
Prdx3	T	G	19: 60,859,848 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,669,501 (GRCm39)	R295K	probably null	Het
Rhbdl2	T	A	4: 123,723,463 (GRCm39)	L289*	probably null	Het
Rnps1	A	G	17: 24,640,835 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,395,823 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,603,033 (GRCm39)	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,772,436 (GRCm39)	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,047,964 (GRCm39)	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,691,662 (GRCm39)	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,662,740 (GRCm39)	E165G	probably benign	Het
Slc6a3	A	T	13: 73,686,776 (GRCm39)	I48F	probably benign	Het
Stxbp3	C	T	3: 108,709,476 (GRCm39)	C354Y	probably damaging	Het
Terb1	C	A	8: 105,199,674 (GRCm39)		probably benign	Het
Tfrc	G	A	16: 32,443,649 (GRCm39)		probably null	Het
Toporsl	A	C	4: 52,611,134 (GRCm39)	R342S	probably benign	Het
Ube2d3	T	A	3: 135,170,978 (GRCm39)	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,486 (GRCm39)	V3417L	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
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
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

Posted On

2016-08-02