Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:Pold1'

234814

Institutional Source

Beutler Lab

Gene Symbol

Pold1

Ensembl Gene

ENSMUSG00000038644

Gene Name

polymerase (DNA directed), delta 1, catalytic subunit

Synonyms

125kDa

MMRRC Submission

040159-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2156 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44182168-44198239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44188542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 475 (V475E)

Ref Sequence

ENSEMBL: ENSMUSP00000117157 (fasta)

Gene Model

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

AlphaFold

P52431

Predicted Effect

probably damaging
Transcript: ENSMUST00000049343
AA Change: V475E

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

SMART Domains

Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: V475E

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: V475E

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

SMART Domains

Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: V475E

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,313,134 (GRCm39)		probably null	Het
Acaa2	T	C	18: 74,926,476 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,748,792 (GRCm39)	Q485R	probably benign	Het
Adcy4	T	G	14: 56,006,627 (GRCm39)	T1069P	probably benign	Het
Arsj	T	C	3: 126,232,337 (GRCm39)	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,939 (GRCm39)	L349R	probably damaging	Het
C1qa	T	C	4: 136,623,727 (GRCm39)	Y159C	probably damaging	Het
Cdh13	A	G	8: 119,963,703 (GRCm39)	K428E	probably damaging	Het
Cenpe	T	C	3: 134,953,235 (GRCm39)	M1563T	probably benign	Het
Col10a1	T	C	10: 34,271,696 (GRCm39)	V556A	probably benign	Het
Creg2	G	A	1: 39,662,338 (GRCm39)	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,589,433 (GRCm39)	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,740,480 (GRCm39)	Y53*	probably null	Het
Cyth1	C	T	11: 118,073,634 (GRCm39)	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,890,346 (GRCm39)	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,120,717 (GRCm39)	R206H	possibly damaging	Het
Evx2	T	A	2: 74,486,360 (GRCm39)	H343L	probably damaging	Het
Fcrl2	T	A	3: 87,164,648 (GRCm39)	I293F	probably benign	Het
Gcnt4	A	G	13: 97,082,974 (GRCm39)	E90G	probably damaging	Het
Gid8	T	G	2: 180,358,751 (GRCm39)	C139G	probably benign	Het
Gm11938	C	A	11: 99,493,933 (GRCm39)	C54F	probably damaging	Het
Gm3336	G	A	8: 71,174,509 (GRCm39)	V158I	probably benign	Het
Gucy1b1	T	C	3: 81,968,327 (GRCm39)	N60D	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,880,629 (GRCm39)	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,085,858 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,775,118 (GRCm39)	I772N	probably damaging	Het
Iqca1	A	G	1: 90,017,238 (GRCm39)	L390P	possibly damaging	Het
Itgb2	C	T	10: 77,396,082 (GRCm39)	R586W	probably benign	Het
Itih1	A	G	14: 30,655,432 (GRCm39)	S588P	possibly damaging	Het
Iyd	T	A	10: 3,497,166 (GRCm39)		probably null	Het
Kl	A	G	5: 150,912,425 (GRCm39)	K725E	probably benign	Het
Layn	T	A	9: 50,968,697 (GRCm39)	M349L	probably benign	Het
Map3k5	T	C	10: 19,900,683 (GRCm39)	Y286H	probably damaging	Het
Med4	C	T	14: 73,755,472 (GRCm39)		probably benign	Het
Mfn1	T	A	3: 32,588,400 (GRCm39)	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,563,874 (GRCm39)	D152G	probably benign	Het
Mrc2	A	G	11: 105,238,682 (GRCm39)		probably null	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Msh6	G	A	17: 88,293,568 (GRCm39)	W774*	probably null	Het
Mtch1	A	T	17: 29,561,841 (GRCm39)	V121E	probably damaging	Het
Mtg2	G	T	2: 179,725,923 (GRCm39)	E178*	probably null	Het
Nbas	A	T	12: 13,491,510 (GRCm39)	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,525,204 (GRCm39)	T65A	probably benign	Het
Ninl	G	T	2: 150,786,503 (GRCm39)	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,350,873 (GRCm39)	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,366,818 (GRCm39)	V906M	probably damaging	Het
Or51l14	A	G	7: 103,101,371 (GRCm39)	I276V	probably benign	Het
Or6b6	A	G	7: 106,570,775 (GRCm39)	Y259H	probably damaging	Het
Osmr	A	T	15: 6,873,891 (GRCm39)	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,885,033 (GRCm39)	V124A	possibly damaging	Het
P2rx1	T	C	11: 72,904,939 (GRCm39)	M369T	probably benign	Het
Pde4dip	T	C	3: 97,631,534 (GRCm39)	Q1125R	probably damaging	Het
Podn	A	T	4: 107,878,892 (GRCm39)	V180E	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Satb1	G	T	17: 52,047,438 (GRCm39)	Q595K	probably benign	Het
Scaf8	T	A	17: 3,214,407 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,585,128 (GRCm39)	M261L	probably benign	Het
Serpinb3a	C	T	1: 106,975,202 (GRCm39)		probably null	Het
Slc22a26	T	C	19: 7,779,480 (GRCm39)	D112G	probably damaging	Het
Slc25a23	A	G	17: 57,352,562 (GRCm39)	F441L	probably benign	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,229,269 (GRCm39)	Y103H	probably damaging	Het
Slx4	A	G	16: 3,804,223 (GRCm39)	S864P	probably benign	Het
Snap91	T	C	9: 86,707,130 (GRCm39)	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,267 (GRCm39)	F73L	probably damaging	Het
Sphkap	C	T	1: 83,255,710 (GRCm39)	V393M	probably benign	Het
Spred2	T	C	11: 19,971,241 (GRCm39)	Y370H	probably damaging	Het
Sqle	T	C	15: 59,195,578 (GRCm39)		probably null	Het
Srrm2	A	G	17: 24,037,237 (GRCm39)	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,396,352 (GRCm39)	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,185,374 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,901 (GRCm39)	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,734,087 (GRCm39)	L254H	probably damaging	Het
Trpm1	A	T	7: 63,884,736 (GRCm39)	I806F	probably damaging	Het
Ttc22	A	G	4: 106,496,237 (GRCm39)	D429G	probably benign	Het
Ube2o	C	A	11: 116,471,972 (GRCm39)	G90C	probably damaging	Het
Usp34	T	A	11: 23,332,602 (GRCm39)	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Vps35	A	G	8: 86,013,129 (GRCm39)	V116A	probably benign	Het
Wdfy3	A	G	5: 102,046,291 (GRCm39)		probably null	Het
Zeb2	T	C	2: 44,878,821 (GRCm39)	K1138E	probably benign	Het
Zfp513	G	A	5: 31,357,866 (GRCm39)	T169I	probably benign	Het
Zfp629	T	C	7: 127,211,551 (GRCm39)	D86G	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
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
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'- TCTAGTAGTCGGAGTGGCAG -3'
(R):5'- CACGCTGCCTTAAACAGAAG -3'

Sequencing Primer
(F):5'- AAAGGCGTCCTTCAGGCAGTAC -3'
(R):5'- GAAGCTCCACCCACCTGAGG -3'

Posted On

2014-10-01