Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Pold1'

343827

Institutional Source

Beutler Lab

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

MMRRC Submission

041804-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R4583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44532746-44548849 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44538913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 514 (A514S)

Ref Sequence

ENSEMBL: ENSMUSP00000039776 (fasta)

Gene Model

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

AlphaFold

P52431

Predicted Effect

probably damaging
Transcript: ENSMUST00000049343
AA Change: A514S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: A514S

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: ENSMUST00000136225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141742

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

noncoding transcript
Transcript: ENSMUST00000147503

Predicted Effect

probably damaging
Transcript: ENSMUST00000151793
AA Change: A514S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: A514S

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: ENSMUST00000154783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184044

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,574,592	L86P	unknown	Het
Aimp1	C	T	3: 132,677,047	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,397,779	N884I	probably benign	Het
Apoe	G	T	7: 19,697,498	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,912,571	D93E	probably benign	Het
Arhgef12	G	T	9: 42,977,662	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,317,664		probably null	Het
Atp9a	A	T	2: 168,689,360		probably null	Het
Baz1a	T	C	12: 54,922,540	I635V	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Cckar	T	A	5: 53,699,782	M429L	probably benign	Het
Ccl3	A	T	11: 83,648,338	L65Q	probably benign	Het
Ccr3	A	G	9: 124,029,440	T271A	probably benign	Het
Cd8b1	T	A	6: 71,326,097	I52N	probably damaging	Het
Cdh15	G	A	8: 122,865,028	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466	K719R	probably benign	Het
Cfap43	T	C	19: 47,837,216	R38G	probably null	Het
Chd6	T	C	2: 161,014,194	E715G	probably damaging	Het
Cldn34b2	T	A	X: 155,125,629	R68*	probably null	Het
Col19a1	T	G	1: 24,561,329	D44A	unknown	Het
Colgalt2	C	T	1: 152,506,876	S493F	probably damaging	Het
Cr1l	T	C	1: 195,129,831	I99M	probably damaging	Het
Crybg1	T	C	10: 43,997,620	E1164G	probably damaging	Het
Cym	G	T	3: 107,211,402	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,522,842	T263K	probably damaging	Het
Dhx9	T	A	1: 153,460,303	M869L	probably damaging	Het
Dnm2	A	G	9: 21,504,446	H692R	probably damaging	Het
Ern1	A	T	11: 106,407,205	S697T	probably damaging	Het
F12	G	A	13: 55,421,130	T273I	probably benign	Het
Fam151b	A	T	13: 92,468,109	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991	V622A	probably benign	Het
Fbxo2	T	A	4: 148,164,899	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,367,078	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,707,549	D178E	probably benign	Het
Filip1	G	T	9: 79,815,809	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,739,249	Y1722C	probably damaging	Het
Frem3	T	C	8: 80,613,514	V812A	probably benign	Het
Fsip2	A	G	2: 82,978,673	I1779V	probably benign	Het
Gli2	C	T	1: 118,842,068	V585I	probably benign	Het
Gm15056	C	G	8: 20,900,681	S80T	probably benign	Het
Gm4951	T	C	18: 60,246,080	I229T	possibly damaging	Het
Gm5145	A	G	17: 20,570,453	E31G	probably benign	Het
Gmfg	A	G	7: 28,445,944	Y71C	probably damaging	Het
Grk1	A	G	8: 13,409,322	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,715,951	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,145	D2G	probably damaging	Het
Hc	A	T	2: 35,028,177	V698E	probably benign	Het
Helz	G	A	11: 107,646,069	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,413,265	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,663,606	R286G	probably benign	Het
Hus1b	A	T	13: 30,947,518	W53R	probably damaging	Het
Hydin	C	T	8: 110,595,225	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,265,324	P699A	probably benign	Het
Igkv1-122	A	T	6: 68,017,458	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,143,620	Y113C	probably damaging	Het
Il16	A	G	7: 83,682,899	S158P	probably damaging	Het
Kalrn	T	A	16: 34,235,267	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134	L357H	probably damaging	Het
Krt78	T	C	15: 101,946,620	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,684,906	C594R	probably damaging	Het
Lcorl	A	T	5: 45,733,589	L474*	probably null	Het
Lgals3	A	T	14: 47,381,687		probably null	Het
Lnx1	C	T	5: 74,610,796	V350I	probably benign	Het
Lpcat3	T	G	6: 124,703,323	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,541,372	T4149A	probably benign	Het
Memo1	G	A	17: 74,258,461	Q36*	probably null	Het
Micalcl	A	G	7: 112,412,947	N668S	probably benign	Het
Ms4a10	A	T	19: 10,968,189	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,051,872	L362V	possibly damaging	Het
Myh3	T	A	11: 67,096,453	Y1376*	probably null	Het
Mymk	C	A	2: 27,062,280	V192F	probably benign	Het
Myo1c	A	G	11: 75,671,862	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,517,557	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,469,151	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,386,645	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522		probably null	Het
Nsd3	T	A	8: 25,710,676	M1265K	probably benign	Het
Olfr1206	G	T	2: 88,865,494	M296I	probably benign	Het
Olfr1212	T	A	2: 88,959,212	F249I	probably damaging	Het
Olfr1462	T	A	19: 13,190,698	F10L	probably damaging	Het
Olfr152	T	C	2: 87,783,221	V227A	possibly damaging	Het
Olfr155	A	G	4: 43,855,262	T318A	probably benign	Het
Olfr345	A	C	2: 36,640,614	T192P	probably damaging	Het
Olfr394	T	C	11: 73,887,803	T190A	probably damaging	Het
Olfr812	T	C	10: 129,842,475	D189G	probably damaging	Het
Otub1	G	A	19: 7,204,436	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,108,210	R102*	probably null	Het
Patl2	A	G	2: 122,126,745	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,475,575	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,141,528	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,196,502	D447G	probably damaging	Het
Pomgnt1	C	T	4: 116,158,494	T552I	probably benign	Het
Ppl	T	C	16: 5,104,536	E294G	probably benign	Het
Pramef8	A	G	4: 143,416,754	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,457,224	S100G	probably benign	Het
Psg16	T	G	7: 17,095,172	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 123,001,952		probably benign	Het
Reck	T	C	4: 43,931,062		probably null	Het
Rrbp1	C	T	2: 143,988,751	G499S	probably benign	Het
Sema6d	G	T	2: 124,664,162	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,589,956	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,458,921	L80Q	probably damaging	Het
Slc7a10	G	T	7: 35,197,952		probably null	Het
Srrm2	C	T	17: 23,819,619		probably benign	Het
Stk38	T	G	17: 28,982,156	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,685,435	G104S	probably benign	Het
Tmem121b	T	C	6: 120,492,094	E554G	probably damaging	Het
Tor1aip2	A	G	1: 156,065,142	H398R	probably benign	Het
Tram2	C	T	1: 21,013,449	V83I	probably benign	Het
Ube3a	C	T	7: 59,286,063	T565I	probably damaging	Het
Ubr4	T	C	4: 139,380,853	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,349,719	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,606,662	T163I	probably benign	Het
Vmn2r75	T	A	7: 86,164,082	D504V	possibly damaging	Het
Vps36	G	A	8: 22,218,420	M363I	probably benign	Het
Wdsub1	A	G	2: 59,878,317	S71P	probably damaging	Het
Zdhhc12	A	G	2: 30,091,484	F189L	probably benign	Het
Zfp521	T	C	18: 13,844,330	M1009V	probably benign	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
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
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'- TCTTCACCACAGGCATCAG -3'
(R):5'- GTTCAGCACAGCATCATCAC -3'

Sequencing Primer
(F):5'- CGGAGTGAGTATCCGGGTAC -3'
(R):5'- TCATCACCGACCTGCAGG -3'

Posted On

2015-09-24