Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Pold1'

475558

Institutional Source

Beutler Lab

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44532746-44548849 bp(-) (GRCm38)

Type of Mutation

synonymous

DNA Base Change (assembly)

C to T at 44543347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117157 (fasta)

Gene Model

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

AlphaFold

P52431

Predicted Effect

silent
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

silent
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

silent
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: ENSMUST00000208368

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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
4930444G20Rik	A	T	10: 22,067,379	I234N	probably benign	Het
Actrt3	A	G	3: 30,599,698	V51A	probably damaging	Het
Adgb	C	T	10: 10,431,281		probably null	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Als2	A	G	1: 59,211,137	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,615,682	R306H	probably damaging	Het
Arhgef10	T	C	8: 14,975,093		probably null	Het
Arhgef10	A	G	8: 14,975,666	I459V	probably benign	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp12a	A	G	14: 56,386,950	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,418,111		noncoding transcript	Het
Cacna2d1	G	A	5: 16,312,568	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,741,861		silent	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Cd6	A	G	19: 10,794,626	I307T	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Csmd3	C	T	15: 47,857,924	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,214,774	S217L	probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Dmp1	A	G	5: 104,212,108	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eral1	A	G	11: 78,076,278	I164T	possibly damaging	Het
Esr1	G	A	10: 4,997,890	R481H	probably damaging	Het
Fam19a2	A	T	10: 123,704,365	H42L	possibly damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Gbp11	C	T	5: 105,331,000	D191N	probably benign	Het
Gm21759	T	A	5: 8,180,863		probably benign	Het
Gm5454	C	A	13: 103,357,523		noncoding transcript	Het
Gm9874	A	T	17: 30,485,789		probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614	N334I	probably damaging	Het
Grm5	T	C	7: 87,602,722	V60A	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ino80d	C	T	1: 63,061,039		probably null	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Krt31	T	G	11: 100,047,873	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,490,212		probably benign	Het
March8	C	T	6: 116,401,145		probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mdm1	A	G	10: 118,150,942	T267A	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mtm1	T	C	X: 71,296,362		probably benign	Homo
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Mylk2	A	G	2: 152,919,348	K457R	probably damaging	Het
Nell1	A	T	7: 50,249,657		probably benign	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Odf3l2	G	A	10: 79,645,653	T14I	probably benign	Het
Olfr1080	T	C	2: 86,553,584	D180G	possibly damaging	Het
Olfr1510	T	G	14: 52,410,861	T4P	probably benign	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073	N300K	possibly damaging	Het
Otx1	A	G	11: 21,998,681		probably benign	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,780	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150	D550V	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Ppp1r7	T	A	1: 93,357,863		probably null	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Pzp	A	T	6: 128,485,556		probably null	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Retnla	A	G	16: 48,843,612	R90G	probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Slc5a8	A	G	10: 88,904,963	I247V	probably benign	Het
Son	A	G	16: 91,664,317		probably null	Het
Spcs2	T	C	7: 99,839,761	D240G	probably damaging	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Stx3	A	T	19: 11,789,574	V91D	probably damaging	Het
Taf6l	A	G	19: 8,778,628		probably benign	Het
Tbc1d8	A	G	1: 39,405,317	F187S	probably damaging	Het
Thbs1	C	G	2: 118,119,378	N611K	probably damaging	Het
Tipin	A	C	9: 64,304,327	S232R	probably benign	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	C	T	8: 70,178,915		probably benign	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Ybx3	G	A	6: 131,370,413	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het
Zzz3	T	A	3: 152,446,844		silent	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
R2259:Pold1	UTSW	7	44541484	splice site	probably benign
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

Posted On

2017-05-11