Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Pold3'

514328

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

044492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99731317-99770709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99737312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 342 (V342A)

Ref Sequence

ENSEMBL: ENSMUSP00000146603 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032969
AA Change: V381A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: V381A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156518

Predicted Effect

probably benign
Transcript: ENSMUST00000208184

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208670
AA Change: V342A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208704

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	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
R5038:Pold3	UTSW	7	99,770,590 (GRCm39)	missense	probably damaging	1.00
R6060:Pold3	UTSW	7	99,749,819 (GRCm39)	nonsense	probably null
R6118:Pold3	UTSW	7	99,745,614 (GRCm39)	missense	possibly damaging	0.88
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'- ACAAAAGCCCAGTGTTCTGAC -3'
(R):5'- CATTATGGCAGTGCAGCAGG -3'

Sequencing Primer
(F):5'- AGTGTTCTGACTCCGCTGCAG -3'
(R):5'- AGCAGGGCTGTGTAGAGTTCC -3'

Posted On

2018-04-27