Mutagenetix > Incidental Mutation

Incidental Mutation 'R3770:Pole4'

473688

Institutional Source

Beutler Lab

Gene Symbol

Pole4

Ensembl Gene

ENSMUSG00000030042

Gene Name

polymerase (DNA-directed), epsilon 4 (p12 subunit)

Synonyms

2400007P05Rik, 5830430F06Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

R3770 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82593513-82629985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82599095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 119 (R119C)

Ref Sequence

ENSEMBL: ENSMUSP00000124357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160281]

AlphaFold

Q9CQ36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160281
AA Change: R119C

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124357
Gene: ENSMUSG00000030042
AA Change: R119C

Domain	Start	End	E-Value	Type
Pfam:Histone	11	107	4e-14	PFAM
Pfam:CBFD_NFYB_HMF	40	104	9.8e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161309

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POLE4 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	C	11: 116,065,213 (GRCm39)	D578G	probably damaging	Het
Adgrb1	T	A	15: 74,460,157 (GRCm39)	I543N	probably damaging	Het
Agbl1	T	C	7: 76,075,677 (GRCm39)		probably null	Het
Ano1	A	G	7: 144,149,306 (GRCm39)	Y852H	probably damaging	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Atp1a1	T	C	3: 101,488,510 (GRCm39)	D842G	probably benign	Het
Brd7	A	T	8: 89,066,035 (GRCm39)		probably null	Het
Btbd7	G	A	12: 102,761,451 (GRCm39)	P578L	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cfap54	C	T	10: 92,714,398 (GRCm39)	M2660I	unknown	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Exoc3l4	A	G	12: 111,391,989 (GRCm39)	D410G	probably benign	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,814,755 (GRCm39)	I2703V	probably benign	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Iqcg	G	A	16: 32,870,378 (GRCm39)		silent	Het
Klf3	A	G	5: 64,984,560 (GRCm39)		probably null	Het
Krtap12-1	G	T	10: 77,556,729 (GRCm39)	V91L	probably benign	Het
Lipo5	G	T	19: 33,445,200 (GRCm39)	T123N	unknown	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Map3k5	T	A	10: 19,900,765 (GRCm39)	V313D	probably damaging	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Neurl1a	T	C	19: 47,228,328 (GRCm39)	L58P	probably damaging	Het
Or5aq1	C	T	2: 86,966,158 (GRCm39)	C169Y	probably damaging	Het
Pla2g5	C	G	4: 138,528,746 (GRCm39)	C70S	probably damaging	Het
Ppm1h	G	T	10: 122,740,027 (GRCm39)	L367F	probably damaging	Het
Ptpru	C	T	4: 131,535,735 (GRCm39)	C414Y	probably damaging	Het
Rasal3	A	T	17: 32,611,125 (GRCm39)	L912Q	probably damaging	Het
Reln	C	T	5: 22,153,564 (GRCm39)	V2247M	probably damaging	Het
Rhot2	T	C	17: 26,059,521 (GRCm39)	D407G	probably benign	Het
Rreb1	C	T	13: 38,113,579 (GRCm39)	R313W	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn11a	T	A	9: 119,613,115 (GRCm39)	D825V	probably damaging	Het
Slc12a3	A	G	8: 95,079,668 (GRCm39)	H832R	probably benign	Het
Slc27a2	A	G	2: 126,409,718 (GRCm39)	D300G	possibly damaging	Het
Sos1	A	G	17: 80,705,737 (GRCm39)	V1278A	probably damaging	Het
Sstr3	C	A	15: 78,424,577 (GRCm39)	V57L	probably damaging	Het
Tex2	T	A	11: 106,435,078 (GRCm39)	R783W	unknown	Het
Tjp2	A	T	19: 24,078,190 (GRCm39)	I901N	probably benign	Het
Top1	A	T	2: 160,563,442 (GRCm39)	I758F	probably damaging	Het
Trim41	T	C	11: 48,699,911 (GRCm39)	E98G	possibly damaging	Het
Vmn2r65	A	T	7: 84,589,623 (GRCm39)	N764K	probably damaging	Het
Vmn2r81	A	T	10: 79,106,434 (GRCm39)	I471F	probably damaging	Het
Wdr25	G	A	12: 108,864,346 (GRCm39)	V164M	probably damaging	Het
Zdhhc13	T	A	7: 48,452,692 (GRCm39)	L5M	probably damaging	Het
Zfp747l1	A	G	7: 126,984,035 (GRCm39)		probably benign	Het

Other mutations in Pole4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Pole4	APN	6	82,625,015 (GRCm39)	missense	probably benign	0.06
R1792:Pole4	UTSW	6	82,629,721 (GRCm39)	missense	unknown
R1792:Pole4	UTSW	6	82,629,720 (GRCm39)	missense	unknown
R3767:Pole4	UTSW	6	82,599,095 (GRCm39)	missense	possibly damaging	0.59
R3768:Pole4	UTSW	6	82,599,095 (GRCm39)	missense	possibly damaging	0.59
R3769:Pole4	UTSW	6	82,599,095 (GRCm39)	missense	possibly damaging	0.59
R5534:Pole4	UTSW	6	82,629,115 (GRCm39)	missense	possibly damaging	0.51
R5741:Pole4	UTSW	6	82,628,447 (GRCm39)	missense	probably damaging	0.96
R9613:Pole4	UTSW	6	82,629,099 (GRCm39)	missense	probably benign	0.26

Predicted Primers

Posted On

2017-04-14