Mutagenetix > Incidental Mutations

Incidental Mutation 'R4738:Pold1'

359426

Institutional Source

Beutler Lab

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

MMRRC Submission

041964-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44532746-44548849 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44541329 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 304 (R304C)

Ref Sequence

ENSEMBL: ENSMUSP00000117157 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049343
AA Change: R304C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: R304C

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 damaging
Transcript: ENSMUST00000151793
AA Change: R304C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: R304C

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,973,983	I176T	probably benign	Het
Angpt2	C	T	8: 18,741,059	D74N	probably benign	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Areg	T	C	5: 91,146,724	I247T	possibly damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,103,410	S246T	probably benign	Het
Atp8b1	T	C	18: 64,545,180	R882G	probably benign	Het
Atp9a	A	G	2: 168,668,181	V444A	probably benign	Het
Babam2	T	A	5: 31,901,142	Y211N	probably damaging	Het
Btbd11	C	T	10: 85,627,248	Q626*	probably null	Het
Ccdc127	T	G	13: 74,357,068		probably benign	Het
Cep192	A	T	18: 67,884,830	K2500*	probably null	Het
Cnot4	T	C	6: 35,051,376	N435S	probably benign	Het
Col12a1	T	C	9: 79,699,282	I620V	probably damaging	Het
Cyth4	G	A	15: 78,605,874	M62I	probably benign	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dchs1	C	T	7: 105,758,673	R1984Q	probably damaging	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Disp2	A	G	2: 118,790,326	Y513C	probably damaging	Het
Dph7	T	C	2: 24,963,131	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,430,078	M384K	probably benign	Het
Emc1	G	T	4: 139,362,202	G227V	possibly damaging	Het
Eri2	A	G	7: 119,787,732		probably null	Het
Frzb	A	G	2: 80,424,597		probably null	Het
Ganc	T	A	2: 120,452,594	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,054,747		probably benign	Het
Gm3086	A	T	12: 69,969,381		probably benign	Het
Gsdmc2	A	T	15: 63,826,801	Y315*	probably null	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Hhip	C	T	8: 79,992,570	D443N	probably damaging	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Kank2	T	C	9: 21,774,619	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,283,133	R345S	probably benign	Het
Larp7	A	G	3: 127,546,045		probably null	Het
Lgals12	A	G	19: 7,604,099	V81A	probably benign	Het
Lhx9	A	G	1: 138,832,748	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,026,999	H213L	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Neb	A	C	2: 52,187,482	S1846A	probably damaging	Het
Nr3c2	T	C	8: 76,909,307	S346P	possibly damaging	Het
Olfr1564	A	G	17: 33,215,810	F178S	probably benign	Het
Olfr187	T	C	16: 59,036,195	I181V	probably benign	Het
Olfr376	G	T	11: 73,375,350	L200F	possibly damaging	Het
Olfr487	A	T	7: 108,211,994	N178K	probably damaging	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Osbpl10	A	G	9: 115,216,574	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,979,918	V210A	probably damaging	Het
Pam	A	T	1: 97,923,132	V167D	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pbx4	C	T	8: 69,864,969	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,403,415	C821R	probably benign	Het
Plekhg3	T	C	12: 76,576,914	I976T	probably damaging	Het
Prss38	T	C	11: 59,372,945	T314A	probably benign	Het
Psph	T	C	5: 129,769,386		probably null	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,934,436	E648G	probably damaging	Het
Ralgds	A	G	2: 28,545,416	E465G	probably damaging	Het
Rfng	T	C	11: 120,783,964	T67A	probably damaging	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Rps6kl1	G	T	12: 85,140,387	F181L	probably benign	Het
Spata46	G	A	1: 170,311,886	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,477,980	N124K	probably damaging	Het
Sspo	C	T	6: 48,478,396	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,797,089	I231T	probably damaging	Het
Tff3	G	A	17: 31,127,509	P30S	probably benign	Het
Thg1l	C	T	11: 45,954,191	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,256,882	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,090,502	T14A	probably damaging	Het
Tspan17	T	A	13: 54,795,064	C116*	probably null	Het
Ttn	T	C	2: 76,880,546		probably benign	Het
Tyr	T	C	7: 87,492,647	Y158C	probably null	Het
U2af1l4	G	T	7: 30,563,348		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,447,070	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,239,076	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,464,142		probably null	Het
Zfp521	T	C	18: 13,844,054	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,317,165	F345I	probably benign	Het
Zswim2	T	A	2: 83,915,395	R566S	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
R4583:Pold1	UTSW	7	44538913	missense	probably damaging	0.97
R4661:Pold1	UTSW	7	44532809	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
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'- GAAGACACAGGGACCTCATTC -3'
(R):5'- CTGGAAAGTACGTTCGGAGG -3'

Sequencing Primer
(F):5'- AGGGACCTCATTCCTGCTCG -3'
(R):5'- TACGTTCGGAGGGCGGAG -3'

Posted On

2015-11-11