Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Pold1'

243635

Institutional Source

Beutler Lab

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R2259 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

44532746-44548849 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 44541484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000049343] [ENSMUST00000049343] [ENSMUST00000145956] [ENSMUST00000151793] [ENSMUST00000151793]

AlphaFold

P52431

Predicted Effect

probably benign
Transcript: ENSMUST00000049343

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	2.53e-161	SMART
Blast:POLBc	790	837	1e-18	BLAST
Pfam:zf-C4pol	1010	1080	5.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049343

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	2.53e-161	SMART
Blast:POLBc	790	837	1e-18	BLAST
Pfam:zf-C4pol	1010	1080	5.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049343

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	2.53e-161	SMART
Blast:POLBc	790	837	1e-18	BLAST
Pfam:zf-C4pol	1010	1080	5.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138746

Predicted Effect

probably benign
Transcript: ENSMUST00000145956

SMART Domains

Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	65	108	2e-8	BLAST
PDB:3IAY\|A	76	151	7e-8	PDB
SCOP:d1tgoa1	117	153	3e-10	SMART
Blast:POLBc	130	153	7e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151793

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	66	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	7.8e-164	SMART
Blast:POLBc	790	837	1e-18	BLAST
low complexity region	914	938	N/A	INTRINSIC
low complexity region	959	980	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151793

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644

Domain	Start	End	E-Value	Type
coiled coil region	34	58	N/A	INTRINSIC
Blast:POLBc	66	108	1e-7	BLAST
low complexity region	212	225	N/A	INTRINSIC
Blast:POLBc	227	279	1e-19	BLAST
POLBc	306	763	7.8e-164	SMART
Blast:POLBc	790	837	1e-18	BLAST
low complexity region	914	938	N/A	INTRINSIC
low complexity region	959	980	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208368

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 125-kDa catalytic 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. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene have an elevated mutation rate as well as an increased incidence of tumors. Median age for these mice is around 10 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	Het

Other mutations in Pold1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Pold1	APN	7	44543232	splice site	probably benign
IGL01626:Pold1	APN	7	44533372	critical splice donor site	probably null
IGL01635:Pold1	APN	7	44535977	missense	probably damaging	1.00
IGL02165:Pold1	APN	7	44538060	missense	probably damaging	1.00
IGL02197:Pold1	APN	7	44542239	missense	probably benign	0.07
IGL02579:Pold1	APN	7	44543279	missense	probably damaging	1.00
IGL03104:Pold1	APN	7	44540580	missense	probably damaging	1.00
IGL03118:Pold1	APN	7	44539400	missense	probably benign	0.17
PIT4243001:Pold1	UTSW	7	44542158	missense	possibly damaging	0.77
PIT4431001:Pold1	UTSW	7	44538894	missense	probably damaging	1.00
R0184:Pold1	UTSW	7	44541715	missense	probably benign	0.32
R0266:Pold1	UTSW	7	44541025	splice site	probably benign
R0537:Pold1	UTSW	7	44535092	missense	probably damaging	1.00
R1251:Pold1	UTSW	7	44535051	missense	probably benign	0.02
R1348:Pold1	UTSW	7	44534682	missense	probably benign	0.00
R1376:Pold1	UTSW	7	44540562	missense	probably damaging	1.00
R1376:Pold1	UTSW	7	44540562	missense	probably damaging	1.00
R1445:Pold1	UTSW	7	44542757	splice site	probably benign
R2156:Pold1	UTSW	7	44539118	missense	probably damaging	1.00
R2256:Pold1	UTSW	7	44533799	critical splice acceptor site	probably null
R2870:Pold1	UTSW	7	44543347	synonymous	silent
R3793:Pold1	UTSW	7	44541570	missense	probably damaging	1.00
R4493:Pold1	UTSW	7	44537708	missense	probably damaging	1.00
R4583:Pold1	UTSW	7	44538913	missense	probably damaging	0.97
R4661:Pold1	UTSW	7	44532809	missense	probably damaging	0.99
R4738:Pold1	UTSW	7	44541329	missense	probably damaging	0.99
R4769:Pold1	UTSW	7	44535071	missense	probably damaging	1.00
R4797:Pold1	UTSW	7	44541901	missense	possibly damaging	0.91
R5009:Pold1	UTSW	7	44533902	missense	probably benign	0.13
R5150:Pold1	UTSW	7	44535832	missense	possibly damaging	0.91
R5534:Pold1	UTSW	7	44538619	missense	probably damaging	1.00
R5988:Pold1	UTSW	7	44540580	missense	probably damaging	1.00
R6113:Pold1	UTSW	7	44537700	missense	probably damaging	1.00
R6127:Pold1	UTSW	7	44542121	missense	probably damaging	1.00
R6232:Pold1	UTSW	7	44540842	critical splice donor site	probably null
R6435:Pold1	UTSW	7	44538778	missense	probably damaging	1.00
R6436:Pold1	UTSW	7	44538778	missense	probably damaging	1.00
R6437:Pold1	UTSW	7	44538778	missense	probably damaging	1.00
R6930:Pold1	UTSW	7	44542206	missense	probably benign
R7049:Pold1	UTSW	7	44541371	missense	possibly damaging	0.95
R7158:Pold1	UTSW	7	44538866	missense	probably damaging	1.00
R7170:Pold1	UTSW	7	44542148	missense	possibly damaging	0.93
R7235:Pold1	UTSW	7	44541820	missense	probably benign	0.00
R7372:Pold1	UTSW	7	44543423	missense	possibly damaging	0.59
R7511:Pold1	UTSW	7	44542190	missense	possibly damaging	0.67
R7797:Pold1	UTSW	7	44541789	missense	probably benign	0.00
R9037:Pold1	UTSW	7	44538915	missense	probably damaging	1.00
R9479:Pold1	UTSW	7	44541655	missense	probably damaging	1.00
Z1176:Pold1	UTSW	7	44541780	missense	probably benign	0.15
Z1176:Pold1	UTSW	7	44542232	missense	probably benign
Z1177:Pold1	UTSW	7	44541958	missense	not run

Predicted Primers

PCR Primer
(F):5'- AAACCTTTTCGGCCAGCAC -3'
(R):5'- ACGTGGACTTTGAGATCCG -3'

Sequencing Primer
(F):5'- TCGATGTCGAAGCTAAGCAC -3'
(R):5'- ACTTTGAGATCCGGTGCTGTCC -3'

Posted On

2014-10-16