Mutagenetix > Incidental Mutation

Incidental Mutation 'R5956:Pole'

471174

Institutional Source

Beutler Lab

Gene Symbol

Pole

Ensembl Gene

ENSMUSG00000007080

Gene Name

polymerase (DNA directed), epsilon

Synonyms

pol-epsilon

MMRRC Submission

044144-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110434185-110485319 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 110485153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000058016] [ENSMUST00000112478] [ENSMUST00000112481] [ENSMUST00000200037] [ENSMUST00000200214] [ENSMUST00000195985]

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: ENSMUST00000058016

SMART Domains

Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	388	1.5e-149	PFAM
low complexity region	419	436	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112478

SMART Domains

Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	395	4e-144	PFAM

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199165

Predicted Effect

probably benign
Transcript: ENSMUST00000200037

SMART Domains

Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	388	5.5e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200214

SMART Domains

Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	1	306	1.3e-117	PFAM
low complexity region	332	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195985

SMART Domains

Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:P2X_receptor	27	393	7.4e-144	PFAM
low complexity region	419	436	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,203,893 (GRCm39)	I398K	possibly damaging	Het
Acad9	A	G	3: 36,129,323 (GRCm39)		probably benign	Het
Acsm2	T	C	7: 119,153,704 (GRCm39)	S5P	unknown	Het
Akp3	T	C	1: 87,054,667 (GRCm39)	I334T	probably damaging	Het
Amy1	C	T	3: 113,357,311 (GRCm39)	R176H	probably benign	Het
Ank2	A	T	3: 126,736,337 (GRCm39)		probably benign	Het
Cav1	C	A	6: 17,307,918 (GRCm39)	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,120 (GRCm39)	V151A	probably benign	Het
Cnot1	A	G	8: 96,481,606 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,623,146 (GRCm39)	V448E	probably damaging	Het
Csmd3	T	C	15: 48,655,278 (GRCm39)	E8G	possibly damaging	Het
Ddx31	A	T	2: 28,764,185 (GRCm39)	I464F	probably damaging	Het
Ddx54	A	G	5: 120,764,432 (GRCm39)		probably benign	Het
Dhx16	A	G	17: 36,193,762 (GRCm39)	E319G	probably damaging	Het
Efl1	A	G	7: 82,301,107 (GRCm39)	D37G	probably damaging	Het
Epha5	T	C	5: 84,298,228 (GRCm39)	R444G	probably damaging	Het
Exoc2	C	A	13: 31,004,606 (GRCm39)	C859F	probably benign	Het
Gbx2	T	C	1: 89,860,908 (GRCm39)		probably benign	Het
Gm12258	G	A	11: 58,750,285 (GRCm39)	A9T	probably benign	Het
Gpr141b	T	G	13: 19,913,300 (GRCm39)		noncoding transcript	Het
Grm4	A	G	17: 27,654,129 (GRCm39)	V607A	probably benign	Het
Gvin3	T	C	7: 106,200,677 (GRCm39)		noncoding transcript	Het
Ighv1-74	C	A	12: 115,766,455 (GRCm39)	W55L	probably damaging	Het
Irx4	C	A	13: 73,415,626 (GRCm39)	Y138*	probably null	Het
Itpr1	C	A	6: 108,482,988 (GRCm39)	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,745,854 (GRCm39)	V65G	probably damaging	Het
Mctp2	T	C	7: 71,908,923 (GRCm39)	E130G	probably benign	Het
Mgat5	C	A	1: 127,310,676 (GRCm39)	R197S	probably benign	Het
Mpg	T	C	11: 32,177,951 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,417,910 (GRCm39)	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,764,583 (GRCm39)	V1321I	probably benign	Het
Myo1b	T	C	1: 51,815,391 (GRCm39)	T658A	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,411,217 (GRCm39)	F1423I	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or9g3	A	G	2: 85,584,183 (GRCm39)		probably benign	Het
Osbpl6	A	G	2: 76,379,856 (GRCm39)	R149G	probably damaging	Het
Pacc1	A	G	1: 191,080,568 (GRCm39)	S263G	probably damaging	Het
Papola	T	A	12: 105,777,300 (GRCm39)	W281R	probably damaging	Het
Rptn	A	G	3: 93,305,334 (GRCm39)	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,460,626 (GRCm39)	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Siglece	T	C	7: 43,308,760 (GRCm39)	T198A	probably damaging	Het
Sptb	T	A	12: 76,650,942 (GRCm39)	M1678L	probably benign	Het
Taf8	A	T	17: 47,809,467 (GRCm39)	M98K	probably damaging	Het
Tead2	T	A	7: 44,870,138 (GRCm39)		probably benign	Het
Trrap	C	T	5: 144,744,201 (GRCm39)		silent	Het
Ttn	G	T	2: 76,775,914 (GRCm39)	N1709K	probably damaging	Het
Ube3a	T	C	7: 58,926,768 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,804,054 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,567,123 (GRCm39)	S910P	probably damaging	Het
Usp30	G	A	5: 114,257,682 (GRCm39)	R280Q	possibly damaging	Het
Vsx1	T	C	2: 150,530,457 (GRCm39)	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,517,947 (GRCm39)	C360G	probably benign	Het
Zbtb4	A	G	11: 69,669,040 (GRCm39)	I588V	probably benign	Het
Zdhhc4	A	T	5: 143,310,604 (GRCm39)		probably benign	Het
Zfp568	C	A	7: 29,697,288 (GRCm39)	N69K	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
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'- TCTCACACTCACTATAGGGATTTCC -3'
(R):5'- ACAGACGCTTCAAAACCGTG -3'

Sequencing Primer
(F):5'- AACCCAGAGTCATTGTGTCTG -3'
(R):5'- AACCGTGTTTACTTAGCAGGCAG -3'

Posted On

2017-03-31