Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Pold3'

151660

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

039330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99731317-99770709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99768890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 36 (Q36L)

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

possibly damaging
Transcript: ENSMUST00000032969
AA Change: Q36L

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: Q36L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127128
AA Change: Q36L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000156202

Predicted Effect

probably benign
Transcript: ENSMUST00000208184

Predicted Effect

probably benign
Transcript: ENSMUST00000208670

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	C	11: 109,832,433 (GRCm39)	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 102,994,677 (GRCm39)		probably null	Het
Atp13a4	T	A	16: 29,290,771 (GRCm39)	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,352,534 (GRCm39)	F132C	probably damaging	Het
Btaf1	A	T	19: 36,933,924 (GRCm39)	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,574,918 (GRCm39)	Y590*	probably null	Het
Chi3l1	G	A	1: 134,116,980 (GRCm39)	E315K	probably benign	Het
Col6a6	T	A	9: 105,586,688 (GRCm39)	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,041,521 (GRCm39)	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,431,908 (GRCm39)	T396A	probably benign	Het
Dnaaf6rt	A	T	1: 31,262,296 (GRCm39)	I93F	probably damaging	Het
Dnah6	A	T	6: 73,121,948 (GRCm39)	I1373N	probably damaging	Het
Dop1b	C	A	16: 93,574,274 (GRCm39)	H1598N	probably benign	Het
Erich4	T	A	7: 25,314,559 (GRCm39)	K118M	probably damaging	Het
Gkap1	A	T	13: 58,403,587 (GRCm39)	V179E	probably benign	Het
Gpr107	T	G	2: 31,068,267 (GRCm39)	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,977,504 (GRCm39)	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,549,602 (GRCm39)	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,987,892 (GRCm39)	H266Q	probably benign	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,567,169 (GRCm39)	T423A	probably benign	Het
Mical3	T	C	6: 120,929,430 (GRCm39)	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 70,987,948 (GRCm39)	I1174T	probably benign	Het
Npas2	C	A	1: 39,373,849 (GRCm39)	Q450K	possibly damaging	Het
Nrp1	T	A	8: 129,194,870 (GRCm39)	I442N	probably damaging	Het
Or1j10	T	A	2: 36,267,006 (GRCm39)	S73T	probably damaging	Het
Or2y1	A	T	11: 49,385,848 (GRCm39)	M163L	probably benign	Het
Palld	TGCGTAGCG	TGCG	8: 61,966,491 (GRCm39)		probably null	Het
Polg	T	C	7: 79,109,534 (GRCm39)	T428A	probably benign	Het
Rfx7	T	A	9: 72,484,329 (GRCm39)	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,602,177 (GRCm39)	M1R	probably null	Het
Sanbr	A	T	11: 23,570,278 (GRCm39)	Y207*	probably null	Het
Scn10a	T	A	9: 119,446,799 (GRCm39)	T1410S	probably damaging	Het
Serpinb13	T	A	1: 106,928,466 (GRCm39)	V362E	probably damaging	Het
Setdb1	T	C	3: 95,234,922 (GRCm39)	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,539,470 (GRCm39)	K91R	probably benign	Het
Shprh	A	G	10: 11,035,274 (GRCm39)	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Styxl1	G	T	5: 135,782,737 (GRCm39)	S117R	probably damaging	Het
Synj2	T	C	17: 6,069,634 (GRCm39)	F150L	probably damaging	Het
Tep1	C	A	14: 51,082,970 (GRCm39)	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,778,468 (GRCm39)	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,266,093 (GRCm39)	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,506,762 (GRCm39)	I115F	possibly damaging	Het
Trim38	A	G	13: 23,975,117 (GRCm39)	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,250,536 (GRCm39)	V44D	probably benign	Het
Vars2	A	G	17: 35,972,501 (GRCm39)	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,428,584 (GRCm39)	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,027,667 (GRCm39)	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,315,533 (GRCm39)	Y762C	probably benign	Het
Vps13d	T	A	4: 144,896,918 (GRCm39)	Q334L	probably benign	Het
Zfp277	A	T	12: 40,414,164 (GRCm39)	I227N	probably 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
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'- TGACCCAGGTAGAAAGTCAGTTCTAACC -3'
(R):5'- GTTTACAGGACACAGCCATCCGAG -3'

Sequencing Primer
(F):5'- acaggcaactcagattggac -3'
(R):5'- GCCATCCGAGAATAAGAGTCC -3'

Posted On

2014-01-29