Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:Pold1'

555237

Institutional Source

Beutler Lab

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: 0.968) question?

Stock #

PIT4431001 (G1)

Quality Score

193.009

Status

Not validated

Chromosome

Chromosomal Location

44182168-44198239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44188318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 520 (L520P)

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: L520P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: L520P

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: 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: L520P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: L520P

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: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,439,322 (GRCm39)	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,254,750 (GRCm39)	C357F	probably damaging	Het
Actr1a	A	T	19: 46,370,731 (GRCm39)		probably null	Het
Adcy1	C	G	11: 7,014,089 (GRCm39)	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,295,536 (GRCm39)	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,081,795 (GRCm39)	T1235A	possibly damaging	Het
Atosb	C	A	4: 43,036,024 (GRCm39)	G236C	probably damaging	Het
Atp8a2	T	C	14: 59,892,075 (GRCm39)	D1091G	probably benign	Het
Bmp6	T	C	13: 38,669,906 (GRCm39)	S397P	probably benign	Het
C3	A	T	17: 57,513,242 (GRCm39)	N1468K	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,470,534 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,764,231 (GRCm39)	I100V	probably benign	Het
Cep162	T	A	9: 87,126,398 (GRCm39)	R171S	probably benign	Het
Chd8	T	C	14: 52,455,706 (GRCm39)	H994R	probably damaging	Het
Cntn3	T	A	6: 102,441,527 (GRCm39)	K6N	probably benign	Het
Cope	A	G	8: 70,765,417 (GRCm39)	E289G	probably damaging	Het
Cpne8	T	G	15: 90,436,178 (GRCm39)	E279A	probably damaging	Het
Cyp11a1	A	T	9: 57,923,555 (GRCm39)		probably null	Het
Dcp2	A	G	18: 44,545,638 (GRCm39)	K333R	probably benign	Het
Dpp6	G	T	5: 27,836,496 (GRCm39)	V329F	probably benign	Het
Drc1	T	A	5: 30,504,417 (GRCm39)	D186E	probably damaging	Het
Dsc2	G	A	18: 20,179,334 (GRCm39)	Q245*	probably null	Het
Eef1e1	T	C	13: 38,842,938 (GRCm39)	E11G	probably damaging	Het
Emilin2	G	A	17: 71,562,990 (GRCm39)	P915S	probably benign	Het
Fpgt	A	G	3: 154,792,422 (GRCm39)	M535T	possibly damaging	Het
Fxyd3	G	A	7: 30,770,780 (GRCm39)	L37F	probably damaging	Het
Gal3st2c	T	A	1: 93,935,834 (GRCm39)	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,365,647 (GRCm39)	I2T	probably benign	Het
Gm9611	T	C	14: 42,115,888 (GRCm39)	M169V		Het
Ints3	G	A	3: 90,303,767 (GRCm39)	T720I	probably damaging	Het
Itpr2	T	G	6: 146,256,218 (GRCm39)	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,560,508 (GRCm39)	H256Q	probably benign	Het
Lama2	T	C	10: 26,977,426 (GRCm39)	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,581,997 (GRCm39)	G442D	probably damaging	Het
Lrp1b	C	T	2: 40,894,767 (GRCm39)	V2268M		Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Mtr	C	T	13: 12,227,329 (GRCm39)	V772M	probably damaging	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Myo5c	A	G	9: 75,159,853 (GRCm39)	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,709,993 (GRCm39)	F13I	probably benign	Het
Or4a75	T	C	2: 89,448,201 (GRCm39)	I112V	probably benign	Het
Paqr6	A	T	3: 88,273,084 (GRCm39)	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,151,104 (GRCm39)	V271G	probably damaging	Het
Pde7b	T	C	10: 20,276,291 (GRCm39)	H405R	possibly damaging	Het
Plxnb1	A	G	9: 108,929,786 (GRCm39)	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,042,067 (GRCm39)	F101L	probably benign	Het
Pramel1	A	G	4: 143,124,960 (GRCm39)	T295A	possibly damaging	Het
Psg20	A	T	7: 18,408,475 (GRCm39)	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,476,527 (GRCm39)	R71*	probably null	Het
Ptgs1	A	T	2: 36,130,692 (GRCm39)	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,386,047 (GRCm39)	D333G	probably damaging	Het
Rfx7	T	A	9: 72,525,253 (GRCm39)	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,304,704 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,432 (GRCm39)	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,443,290 (GRCm39)	V860E	probably benign	Het
Slc12a1	T	A	2: 125,032,124 (GRCm39)	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 102,927,467 (GRCm39)	F120S	probably damaging	Het
Smyd4	T	C	11: 75,294,339 (GRCm39)	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,765,396 (GRCm39)	Y242C	probably damaging	Het
Sqle	A	G	15: 59,195,509 (GRCm39)	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,494,498 (GRCm39)	S246P	probably benign	Het
Tenm3	G	A	8: 48,688,642 (GRCm39)	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,036,939 (GRCm39)	N279K	probably benign	Het
Tmed5	T	A	5: 108,277,887 (GRCm39)	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,674 (GRCm39)	L443P	probably damaging	Het
Ttc38	C	A	15: 85,720,328 (GRCm39)	Q97K	probably benign	Het
Unc13c	C	A	9: 73,656,829 (GRCm39)	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,896,958 (GRCm39)	T102A	possibly damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,984,361 (GRCm39)	S394T	possibly damaging	Het
Zan	C	T	5: 137,390,326 (GRCm39)	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,089,536 (GRCm39)	F1122L	probably benign	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
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
R4661:Pold1	UTSW	7	44,182,233 (GRCm39)	missense	probably damaging	0.99
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'- TTCACCACAGGCATCAGCAG -3'
(R):5'- GTTCAGCACAGCATCATCAC -3'

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

Posted On

2019-06-07