Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Pold1'

352849

Institutional Source

Beutler Lab

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

MMRRC Submission

041600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44182168-44198239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44182233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 1100 (P1100T)

Ref Sequence

ENSEMBL: ENSMUSP00000039776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035323] [ENSMUST00000049343] [ENSMUST00000098483] [ENSMUST00000205506] [ENSMUST00000151793]

AlphaFold

P52431

Predicted Effect

probably benign
Transcript: ENSMUST00000035323

SMART Domains

Protein: ENSMUSP00000035539
Gene: ENSMUSG00000008193

Domain	Start	End	E-Value	Type
low complexity region	50	58	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
ETS	173	261	2.05e-41	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000049343
AA Change: P1100T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: P1100T

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: ENSMUST00000098483

SMART Domains

Protein: ENSMUSP00000096084
Gene: ENSMUSG00000008193

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
low complexity region	177	189	N/A	INTRINSIC
ETS	191	279	2.05e-41	SMART

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

noncoding transcript
Transcript: ENSMUST00000154783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147503

Predicted Effect

probably benign
Transcript: ENSMUST00000205506

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,198,627 (GRCm39)	N42D	probably damaging	Het
Adamdec1	G	A	14: 68,807,562 (GRCm39)	T366I	probably damaging	Het
Adamts7	C	A	9: 90,075,383 (GRCm39)	H1038Q	probably benign	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Amhr2	A	T	15: 102,362,688 (GRCm39)	D485V	probably damaging	Het
Arhgap35	A	T	7: 16,298,663 (GRCm39)	F134Y	probably damaging	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,308,248 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Atp9a	A	G	2: 168,479,592 (GRCm39)	F928L	possibly damaging	Het
BC034090	A	T	1: 155,108,221 (GRCm39)	D13E	probably damaging	Het
Bco1	A	G	8: 117,855,980 (GRCm39)	E425G	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
C1s1	T	C	6: 124,513,449 (GRCm39)	I193V	probably benign	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Catsperz	T	G	19: 6,902,171 (GRCm39)	T108P	probably benign	Het
Cep57l1	T	A	10: 41,595,767 (GRCm39)	D329V	possibly damaging	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chrna2	G	A	14: 66,386,292 (GRCm39)	G146D	probably damaging	Het
Col6a1	A	C	10: 76,550,506 (GRCm39)	F520V	unknown	Het
Cyb5d2	C	A	11: 72,669,771 (GRCm39)	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,775,290 (GRCm39)	T321A	probably benign	Het
Dnajc16	A	C	4: 141,490,859 (GRCm39)	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,473,590 (GRCm39)	V888M	probably damaging	Het
F5	A	C	1: 164,012,489 (GRCm39)	T468P	probably damaging	Het
Faap24	A	G	7: 35,094,509 (GRCm39)	M97T	probably benign	Het
Fam227b	A	T	2: 125,849,230 (GRCm39)	I334N	probably damaging	Het
Frem2	G	T	3: 53,562,864 (GRCm39)	P548T	probably damaging	Het
Gfm1	A	G	3: 67,340,731 (GRCm39)	E94G	probably damaging	Het
Gm17606	A	T	14: 54,885,696 (GRCm39)		probably benign	Het
Gnb2	A	T	5: 137,528,515 (GRCm39)	M1K	probably null	Het
Gys1	G	A	7: 45,104,258 (GRCm39)	A544T	probably damaging	Het
Hdac5	T	C	11: 102,096,675 (GRCm39)	Y230C	probably damaging	Het
Hunk	A	T	16: 90,244,196 (GRCm39)		probably null	Het
Ifnl2	A	G	7: 28,209,635 (GRCm39)	F51L	probably damaging	Het
Itpr1	T	C	6: 108,387,892 (GRCm39)		probably null	Het
Kcnj1	A	G	9: 32,307,918 (GRCm39)	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,706,459 (GRCm39)	S322T	probably damaging	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Kif6	T	C	17: 50,060,909 (GRCm39)	V414A	probably benign	Het
L1td1	A	G	4: 98,621,861 (GRCm39)	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,490,581 (GRCm39)	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,886,433 (GRCm39)	M74L	probably damaging	Het
Lrp6	C	T	6: 134,488,230 (GRCm39)	D289N	probably benign	Het
Mroh7	A	G	4: 106,548,710 (GRCm39)		probably null	Het
Muc4	A	C	16: 32,589,651 (GRCm39)	E2885A	possibly damaging	Het
Myo18b	G	T	5: 113,023,041 (GRCm39)		probably benign	Het
Ncln	G	A	10: 81,328,902 (GRCm39)	A172V	probably damaging	Het
Nek9	G	A	12: 85,367,666 (GRCm39)	T335M	possibly damaging	Het
Notch2	A	G	3: 98,042,829 (GRCm39)	Y1398C	probably damaging	Het
Or10g6	A	T	9: 39,933,823 (GRCm39)	I45F	probably damaging	Het
Or2d4	T	A	7: 106,544,074 (GRCm39)	I45F	probably damaging	Het
Or5p52	A	T	7: 107,502,188 (GRCm39)	H88L	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pde6c	A	G	19: 38,157,887 (GRCm39)	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Prune2	T	C	19: 16,977,387 (GRCm39)	Y41H	probably damaging	Het
Rgl2	C	T	17: 34,152,200 (GRCm39)	A329V	possibly damaging	Het
Rilp	T	A	11: 75,402,250 (GRCm39)	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,652,751 (GRCm39)	V19A	probably benign	Het
Rtp3	T	C	9: 110,815,519 (GRCm39)		probably null	Het
Rufy4	A	G	1: 74,172,266 (GRCm39)	K246E	probably damaging	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,857,658 (GRCm39)	N828K	probably benign	Het
Src	C	T	2: 157,311,852 (GRCm39)	P527S	probably damaging	Het
Susd3	C	T	13: 49,384,778 (GRCm39)		probably null	Het
Syngap1	T	C	17: 27,185,880 (GRCm39)	L1270P	probably damaging	Het
Taf1c	G	A	8: 120,325,589 (GRCm39)	P758S	probably damaging	Het
Tenm2	A	T	11: 35,915,275 (GRCm39)	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,448,969 (GRCm39)	I703F	probably damaging	Het
Thap1	C	G	8: 26,650,874 (GRCm39)	T48S	probably benign	Het
Tspear	T	C	10: 77,702,163 (GRCm39)	F199L	probably benign	Het
Usp17lc	A	T	7: 103,067,797 (GRCm39)	H364L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 181,984,789 (GRCm39)	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,006,552 (GRCm39)	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,204,117 (GRCm39)	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,487,885 (GRCm39)	I838S	probably benign	Het
Wdr64	A	T	1: 175,554,060 (GRCm39)	S197C	probably damaging	Het
Zfp248	A	T	6: 118,410,268 (GRCm39)	V47E	possibly damaging	Het

Other mutations in Pold1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Pold1	APN	7	44,192,656 (GRCm39)	splice site	probably benign
IGL01626:Pold1	APN	7	44,182,796 (GRCm39)	critical splice donor site	probably null
IGL01635:Pold1	APN	7	44,185,401 (GRCm39)	missense	probably damaging	1.00
IGL02165:Pold1	APN	7	44,187,484 (GRCm39)	missense	probably damaging	1.00
IGL02197:Pold1	APN	7	44,191,663 (GRCm39)	missense	probably benign	0.07
IGL02579:Pold1	APN	7	44,192,703 (GRCm39)	missense	probably damaging	1.00
IGL03104:Pold1	APN	7	44,190,004 (GRCm39)	missense	probably damaging	1.00
IGL03118:Pold1	APN	7	44,188,824 (GRCm39)	missense	probably benign	0.17
PIT4243001:Pold1	UTSW	7	44,191,582 (GRCm39)	missense	possibly damaging	0.77
PIT4431001:Pold1	UTSW	7	44,188,318 (GRCm39)	missense	probably damaging	1.00
R0184:Pold1	UTSW	7	44,191,139 (GRCm39)	missense	probably benign	0.32
R0266:Pold1	UTSW	7	44,190,449 (GRCm39)	splice site	probably benign
R0537:Pold1	UTSW	7	44,184,516 (GRCm39)	missense	probably damaging	1.00
R1251:Pold1	UTSW	7	44,184,475 (GRCm39)	missense	probably benign	0.02
R1348:Pold1	UTSW	7	44,184,106 (GRCm39)	missense	probably benign	0.00
R1376:Pold1	UTSW	7	44,189,986 (GRCm39)	missense	probably damaging	1.00
R1376:Pold1	UTSW	7	44,189,986 (GRCm39)	missense	probably damaging	1.00
R1445:Pold1	UTSW	7	44,192,181 (GRCm39)	splice site	probably benign
R2156:Pold1	UTSW	7	44,188,542 (GRCm39)	missense	probably damaging	1.00
R2256:Pold1	UTSW	7	44,183,223 (GRCm39)	critical splice acceptor site	probably null
R2259:Pold1	UTSW	7	44,190,908 (GRCm39)	splice site	probably benign
R2870:Pold1	UTSW	7	44,192,771 (GRCm39)	synonymous	silent
R3793:Pold1	UTSW	7	44,190,994 (GRCm39)	missense	probably damaging	1.00
R4493:Pold1	UTSW	7	44,187,132 (GRCm39)	missense	probably damaging	1.00
R4583:Pold1	UTSW	7	44,188,337 (GRCm39)	missense	probably damaging	0.97
R4738:Pold1	UTSW	7	44,190,753 (GRCm39)	missense	probably damaging	0.99
R4769:Pold1	UTSW	7	44,184,495 (GRCm39)	missense	probably damaging	1.00
R4797:Pold1	UTSW	7	44,191,325 (GRCm39)	missense	possibly damaging	0.91
R5009:Pold1	UTSW	7	44,183,326 (GRCm39)	missense	probably benign	0.13
R5150:Pold1	UTSW	7	44,185,256 (GRCm39)	missense	possibly damaging	0.91
R5534:Pold1	UTSW	7	44,188,043 (GRCm39)	missense	probably damaging	1.00
R5988:Pold1	UTSW	7	44,190,004 (GRCm39)	missense	probably damaging	1.00
R6113:Pold1	UTSW	7	44,187,124 (GRCm39)	missense	probably damaging	1.00
R6127:Pold1	UTSW	7	44,191,545 (GRCm39)	missense	probably damaging	1.00
R6232:Pold1	UTSW	7	44,190,266 (GRCm39)	critical splice donor site	probably null
R6435:Pold1	UTSW	7	44,188,202 (GRCm39)	missense	probably damaging	1.00
R6436:Pold1	UTSW	7	44,188,202 (GRCm39)	missense	probably damaging	1.00
R6437:Pold1	UTSW	7	44,188,202 (GRCm39)	missense	probably damaging	1.00
R6930:Pold1	UTSW	7	44,191,630 (GRCm39)	missense	probably benign
R7049:Pold1	UTSW	7	44,190,795 (GRCm39)	missense	possibly damaging	0.95
R7158:Pold1	UTSW	7	44,188,290 (GRCm39)	missense	probably damaging	1.00
R7170:Pold1	UTSW	7	44,191,572 (GRCm39)	missense	possibly damaging	0.93
R7235:Pold1	UTSW	7	44,191,244 (GRCm39)	missense	probably benign	0.00
R7372:Pold1	UTSW	7	44,192,847 (GRCm39)	missense	possibly damaging	0.59
R7511:Pold1	UTSW	7	44,191,614 (GRCm39)	missense	possibly damaging	0.67
R7797:Pold1	UTSW	7	44,191,213 (GRCm39)	missense	probably benign	0.00
R9037:Pold1	UTSW	7	44,188,339 (GRCm39)	missense	probably damaging	1.00
R9479:Pold1	UTSW	7	44,191,079 (GRCm39)	missense	probably damaging	1.00
Z1176:Pold1	UTSW	7	44,191,656 (GRCm39)	missense	probably benign
Z1176:Pold1	UTSW	7	44,191,204 (GRCm39)	missense	probably benign	0.15
Z1177:Pold1	UTSW	7	44,191,382 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGAGTAGTAGGGTCCCATGCTG -3'
(R):5'- GGTACTGCTGTTATCGGCTTCC -3'

Sequencing Primer
(F):5'- CCATGCTGGGTTTCAGAGG -3'
(R):5'- GGCTTCCCTATGCCCGATAAG -3'

Posted On

2015-10-08