Mutagenetix > Incidental Mutation

Incidental Mutation 'R2248:Pole3'

240939

Institutional Source

Beutler Lab

Gene Symbol

Pole3

Ensembl Gene

ENSMUSG00000028394

Gene Name

polymerase (DNA directed), epsilon 3 (p17 subunit)

Synonyms

1810034K18Rik, YBL1

MMRRC Submission

040248-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R2248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62440889-62443305 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 62443250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030091] [ENSMUST00000062145] [ENSMUST00000128100]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030091

SMART Domains

Protein: ENSMUSP00000030091
Gene: ENSMUSG00000028394

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	8	73	1.8e-16	PFAM
low complexity region	95	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062145

SMART Domains

Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046

Domain	Start	End	E-Value	Type
Pfam:DUF4647	22	481	7.3e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128100

SMART Domains

Protein: ENSMUSP00000114486
Gene: ENSMUSG00000028394

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	8	50	3.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129930

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,323,476 (GRCm39)		probably benign	Het
Afp	A	G	5: 90,649,429 (GRCm39)	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aldh1a2	A	T	9: 71,123,144 (GRCm39)	I6F	possibly damaging	Het
Alg6	C	T	4: 99,626,444 (GRCm39)	A84V	probably damaging	Het
Ank	T	A	15: 27,562,797 (GRCm39)		probably null	Het
Ano5	A	T	7: 51,243,537 (GRCm39)	M837L	probably benign	Het
Arl8b	A	G	6: 108,760,304 (GRCm39)	Y30C	probably benign	Het
Bfsp1	A	T	2: 143,669,572 (GRCm39)		probably null	Het
Cdhr1	C	G	14: 36,803,334 (GRCm39)	V581L	probably benign	Het
Chst8	G	T	7: 34,447,597 (GRCm39)	T7K	probably damaging	Het
Clca3b	T	C	3: 144,530,980 (GRCm39)	K790R	probably benign	Het
Clta	A	G	4: 44,012,852 (GRCm39)	N21D	probably damaging	Het
Col6a4	T	G	9: 105,957,158 (GRCm39)	E222A	probably benign	Het
Dcc	G	T	18: 71,959,239 (GRCm39)	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,491,358 (GRCm39)	D140G	possibly damaging	Het
Dthd1	A	T	5: 63,007,243 (GRCm39)	D648V	probably damaging	Het
Eva1c	A	G	16: 90,628,213 (GRCm39)	N18S	probably benign	Het
Flnc	A	G	6: 29,451,400 (GRCm39)	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,162,815 (GRCm39)	E362G	probably benign	Het
Frk	C	A	10: 34,484,527 (GRCm39)	T500K	probably benign	Het
Glipr1l1	A	G	10: 111,898,192 (GRCm39)	E99G	probably benign	Het
Gphn	T	C	12: 78,501,595 (GRCm39)	L120P	probably damaging	Het
Gpr152	T	C	19: 4,193,805 (GRCm39)	S449P	probably benign	Het
Greb1	T	A	12: 16,730,379 (GRCm39)	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,853,254 (GRCm39)	T89N	probably damaging	Het
Helz2	A	C	2: 180,875,226 (GRCm39)	I1756S	probably benign	Het
Hydin	G	T	8: 111,304,835 (GRCm39)	R3825L	probably benign	Het
Ifi207	G	A	1: 173,564,036 (GRCm39)		probably benign	Het
Itpr3	A	T	17: 27,334,033 (GRCm39)	E2035V	probably damaging	Het
Khnyn	T	A	14: 56,124,195 (GRCm39)	S150T	probably benign	Het
Kif21b	T	C	1: 136,100,704 (GRCm39)	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,242,607 (GRCm39)	T230S	possibly damaging	Het
Limch1	G	T	5: 67,201,742 (GRCm39)	G838V	probably damaging	Het
Lrp2	T	A	2: 69,341,354 (GRCm39)	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,744,050 (GRCm39)	T153S	possibly damaging	Het
Mal2	T	A	15: 54,451,732 (GRCm39)	I51N	probably damaging	Het
Matcap2	A	G	9: 22,355,410 (GRCm39)	T482A	probably benign	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,407,295 (GRCm39)	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,532,088 (GRCm39)	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,168,398 (GRCm39)	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,940,926 (GRCm39)	E289G	possibly damaging	Het
Or2m13	A	G	16: 19,225,944 (GRCm39)	V274A	probably damaging	Het
Or4a81	C	A	2: 89,619,524 (GRCm39)	M57I	possibly damaging	Het
Or5w17	T	C	2: 87,584,287 (GRCm39)	I17V	probably null	Het
Plk1	A	G	7: 121,768,044 (GRCm39)		probably benign	Het
Pms2	G	A	5: 143,853,324 (GRCm39)	V230M	probably damaging	Het
Ppp2r5c	T	C	12: 110,452,357 (GRCm39)	F22S	probably benign	Het
Prp2rt	C	A	13: 97,235,406 (GRCm39)	V114F	possibly damaging	Het
Ptcd3	A	T	6: 71,871,269 (GRCm39)		probably null	Het
Ptprq	A	T	10: 107,478,931 (GRCm39)		probably null	Het
Rab18	T	A	18: 6,788,629 (GRCm39)	C199S	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Sacs	A	G	14: 61,450,251 (GRCm39)	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,992,869 (GRCm39)		probably null	Het
Slco1c1	T	A	6: 141,492,415 (GRCm39)	I217N	probably damaging	Het
Syne2	C	T	12: 76,143,678 (GRCm39)	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,297 (GRCm39)	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,499,931 (GRCm39)	T107N	probably benign	Het
Trappc6b	T	C	12: 59,097,167 (GRCm39)	T52A	probably damaging	Het
Tsen54	A	G	11: 115,706,232 (GRCm39)	E122G	probably damaging	Het
Tspear	A	G	10: 77,709,103 (GRCm39)	N443S	probably damaging	Het
Unc80	A	G	1: 66,662,365 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,518,927 (GRCm39)	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,238,019 (GRCm39)	D207N	probably benign	Het

Other mutations in Pole3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Pole3	APN	4	62,443,056 (GRCm39)	missense	possibly damaging	0.71
R3969:Pole3	UTSW	4	62,443,198 (GRCm39)	missense	possibly damaging	0.85
R5568:Pole3	UTSW	4	62,442,668 (GRCm39)	missense	probably damaging	0.96
R6394:Pole3	UTSW	4	62,442,263 (GRCm39)	utr 3 prime	probably benign
R6902:Pole3	UTSW	4	62,442,300 (GRCm39)	utr 3 prime	probably benign
R7224:Pole3	UTSW	4	62,442,287 (GRCm39)	missense	unknown
R7689:Pole3	UTSW	4	62,443,060 (GRCm39)	missense	probably damaging	1.00
R9241:Pole3	UTSW	4	62,442,845 (GRCm39)	critical splice donor site	probably benign
R9449:Pole3	UTSW	4	62,442,277 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTCCTTGGAGATGTTGACACC -3'
(R):5'- ACCATTGCGACATGGAAAGC -3'

Sequencing Primer
(F):5'- AGATGTTGACACCGTCCG -3'
(R):5'- CATGGAAAGCTGGGCTACACTG -3'

Posted On

2014-10-15