Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Pold3'

48636

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

038715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0522 (G1)

Quality Score

160

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: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	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
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
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'- CCTATGAAAGTCGGCCAGTCTCAAC -3'
(R):5'- AGCAGAGAAATCGCAACGTTCTCAG -3'

Sequencing Primer
(F):5'- CCAGTCTCAACTGTCTTGAGGG -3'
(R):5'- GCTGGCCTCTCACTAGTTTGG -3'

Posted On

2013-06-12