Mutagenetix > Incidental Mutation

Incidental Mutation 'R5038:Pold3'

393114

Institutional Source

Beutler Lab

Gene Symbol

Pold3

Ensembl Gene

ENSMUSG00000030726

Gene Name

polymerase (DNA-directed), delta 3, accessory subunit

Synonyms

GC12, 2410142G14Rik, P68, P66, C85233

MMRRC Submission

042628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5038 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

99731317-99770709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99770590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000032969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032969] [ENSMUST00000127128] [ENSMUST00000156202] [ENSMUST00000208184] [ENSMUST00000208670]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032969
AA Change: V14A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: V14A

Domain	Start	End	E-Value	Type
Pfam:CDC27	19	461	1.6e-142	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127128
AA Change: V14A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000156202

Predicted Effect

probably benign
Transcript: ENSMUST00000208184

Predicted Effect

probably benign
Transcript: ENSMUST00000208670

Meta Mutation Damage Score

0.3870

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

94% (64/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	T	11: 11,539,375 (GRCm39)		probably null	Het
Abtb2	G	T	2: 103,397,408 (GRCm39)	G113C	probably damaging	Het
Acsm5	A	G	7: 119,134,034 (GRCm39)	T272A	probably damaging	Het
Adprs	C	T	4: 126,211,102 (GRCm39)	E272K	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Atp7b	A	C	8: 22,518,472 (GRCm39)	I122S	possibly damaging	Het
B230219D22Rik	T	C	13: 55,847,288 (GRCm39)	Y134H	probably damaging	Het
Bnc1	A	G	7: 81,618,462 (GRCm39)	S868P	probably damaging	Het
Camta1	T	C	4: 151,229,926 (GRCm39)	E302G	probably damaging	Het
Car1	A	G	3: 14,835,933 (GRCm39)	Y129H	probably damaging	Het
Cdh22	T	C	2: 164,984,197 (GRCm39)	T352A	probably benign	Het
Ckmt2	T	C	13: 92,009,282 (GRCm39)	E215G	probably benign	Het
Cyb5r4	T	G	9: 86,941,130 (GRCm39)		probably null	Het
Dhrs13	A	G	11: 77,923,256 (GRCm39)		probably benign	Het
Dsg1c	G	A	18: 20,397,901 (GRCm39)	A34T	probably benign	Het
Epb41l1	T	C	2: 156,363,330 (GRCm39)	V613A	probably benign	Het
Fam114a1	A	G	5: 65,166,388 (GRCm39)	M240V	probably damaging	Het
Gm15455	T	C	1: 33,877,257 (GRCm39)		noncoding transcript	Het
Herc1	T	G	9: 66,383,742 (GRCm39)		probably benign	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Ifna15	T	C	4: 88,476,266 (GRCm39)	N73D	probably benign	Het
Imp4	A	T	1: 34,482,016 (GRCm39)	L45F	probably damaging	Het
Jak3	G	A	8: 72,138,702 (GRCm39)	A967T	probably damaging	Het
Krtap19-2	A	T	16: 88,670,916 (GRCm39)	Y76*	probably null	Het
Map4k5	A	T	12: 69,871,388 (GRCm39)	N492K	probably damaging	Het
Mycbp2	C	T	14: 103,534,375 (GRCm39)	R372H	probably damaging	Het
Nos2	G	A	11: 78,813,140 (GRCm39)	S16N	probably benign	Het
Nr2c2	A	G	6: 92,116,803 (GRCm39)	T2A	probably damaging	Het
Nup188	T	C	2: 30,199,232 (GRCm39)	Y267H	probably damaging	Het
Nxph2	G	A	2: 23,211,556 (GRCm39)		probably null	Het
Or5b107	T	A	19: 13,142,955 (GRCm39)	D192E	probably benign	Het
Or5b96	T	A	19: 12,867,770 (GRCm39)	H57L	probably damaging	Het
Or9i1b	T	A	19: 13,896,822 (GRCm39)	V146E	possibly damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Pik3r1	C	T	13: 101,825,952 (GRCm39)	R37Q	probably damaging	Het
Pkn3	T	C	2: 29,975,293 (GRCm39)		probably null	Het
Ptpn14	T	C	1: 189,519,083 (GRCm39)	S38P	probably damaging	Het
Raf1	G	A	6: 115,597,196 (GRCm39)	Q35*	probably null	Het
Rps3a1	C	A	3: 86,045,338 (GRCm39)	E251D	probably benign	Het
Scd1	C	T	19: 44,390,148 (GRCm39)	V207M	probably damaging	Het
Shq1	A	G	6: 100,607,954 (GRCm39)	V319A	probably benign	Het
Slc4a8	T	C	15: 100,693,702 (GRCm39)	Y416H	probably damaging	Het
Slco1a5	T	C	6: 142,208,363 (GRCm39)	T143A	probably benign	Het
Slco1a5	C	T	6: 142,212,090 (GRCm39)	G90D	probably damaging	Het
Snx9	T	C	17: 5,937,348 (GRCm39)	V30A	probably benign	Het
Spdya	T	C	17: 71,895,561 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,162,368 (GRCm39)	N75I	probably damaging	Het
Sv2b	A	T	7: 74,807,173 (GRCm39)	M159K	probably damaging	Het
Tdh	A	T	14: 63,733,575 (GRCm39)	Y89*	probably null	Het
Tmc7	A	G	7: 118,142,588 (GRCm39)	F600S	probably damaging	Het
Trpa1	T	A	1: 14,981,090 (GRCm39)	H104L	probably damaging	Het
Ttn	G	A	2: 76,678,984 (GRCm39)		probably benign	Het
Vmn1r113	A	G	7: 20,521,419 (GRCm39)	I70M	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,188 (GRCm39)	M138V	probably benign	Het
Zfc3h1	G	A	10: 115,240,116 (GRCm39)	V550I	probably benign	Het
Zfp335	G	T	2: 164,752,564 (GRCm39)	S60*	probably null	Het
Zfp7	T	C	15: 76,776,010 (GRCm39)	M684T	probably benign	Het
Zfp984	T	A	4: 147,839,903 (GRCm39)	H316L	probably damaging	Het
Zmym2	T	A	14: 57,193,637 (GRCm39)	Y1151N	possibly damaging	Het

Other mutations in Pold3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01891:Pold3	APN	7	99,737,352 (GRCm39)	splice site	probably benign
IGL02101:Pold3	APN	7	99,749,703 (GRCm39)	missense	probably damaging	0.99
IGL02402:Pold3	APN	7	99,749,618 (GRCm39)	splice site	probably benign
IGL02541:Pold3	APN	7	99,732,879 (GRCm39)	missense	probably damaging	1.00
IGL03145:Pold3	APN	7	99,745,719 (GRCm39)	missense	probably damaging	1.00
R0522:Pold3	UTSW	7	99,770,590 (GRCm39)	missense	probably damaging	1.00
R1263:Pold3	UTSW	7	99,768,890 (GRCm39)	missense	possibly damaging	0.65
R1956:Pold3	UTSW	7	99,737,318 (GRCm39)	missense	probably benign	0.03
R2508:Pold3	UTSW	7	99,770,590 (GRCm39)	missense	probably damaging	1.00
R3933:Pold3	UTSW	7	99,770,608 (GRCm39)	missense	probably damaging	1.00
R4135:Pold3	UTSW	7	99,749,854 (GRCm39)	nonsense	probably null
R4354:Pold3	UTSW	7	99,749,824 (GRCm39)	missense	possibly damaging	0.81
R6060:Pold3	UTSW	7	99,749,819 (GRCm39)	nonsense	probably null
R6118:Pold3	UTSW	7	99,745,614 (GRCm39)	missense	possibly damaging	0.88
R6338:Pold3	UTSW	7	99,737,312 (GRCm39)	missense	possibly damaging	0.94
R6466:Pold3	UTSW	7	99,749,839 (GRCm39)	missense	probably benign	0.01
R7000:Pold3	UTSW	7	99,755,865 (GRCm39)	missense	probably damaging	1.00
R8088:Pold3	UTSW	7	99,761,508 (GRCm39)	missense	probably damaging	1.00
R8488:Pold3	UTSW	7	99,738,938 (GRCm39)	missense	probably benign	0.00
R9377:Pold3	UTSW	7	99,732,993 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAAGTCGGCCAGTCTCAAC -3'
(R):5'- GCTGGCCTCTCACTAGTTTG -3'

Sequencing Primer
(F):5'- TCAACTGTCTTGAGGGGCCAC -3'
(R):5'- AGTTTGGCCCTCACCCG -3'

Posted On

2016-06-15