Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Pold1'

409876

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

44532746-44548849 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44539400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 447 (I447F)

Ref Sequence

ENSEMBL: ENSMUSP00000117157 (fasta)

Gene Model

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

AlphaFold

P52431

Predicted Effect

probably benign
Transcript: ENSMUST00000049343
AA Change: I447F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: I447F

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

probably benign
Transcript: ENSMUST00000151793
AA Change: I447F

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: I447F

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

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		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
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
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

Posted On

2016-08-02