Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Poldip3'

22461

Institutional Source

Beutler Lab

Gene Symbol

Poldip3

Ensembl Gene

ENSMUSG00000041815

Gene Name

polymerase (DNA-directed), delta interacting protein 3

Synonyms

1110008P04Rik, PDIP46

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

83125976-83149384 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83127943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 372 (L372F)

Ref Sequence

ENSEMBL: ENSMUSP00000097944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058793] [ENSMUST00000100375]

AlphaFold

Q8BG81

Predicted Effect

probably damaging
Transcript: ENSMUST00000058793
AA Change: L401F

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

SMART Domains

Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815
AA Change: L401F

Domain	Start	End	E-Value	Type
low complexity region	183	196	N/A	INTRINSIC
low complexity region	214	223	N/A	INTRINSIC
low complexity region	260	272	N/A	INTRINSIC
RRM	281	347	5.05e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100375
AA Change: L372F

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

SMART Domains

Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815
AA Change: L372F

Domain	Start	End	E-Value	Type
low complexity region	154	167	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
RRM	252	318	5.05e-11	SMART

Meta Mutation Damage Score

0.7718

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,855,217	I145N	probably benign	Het
Ankrd1	G	A	19: 36,119,313	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,439,760	E500G	probably damaging	Het
Arhgef12	T	C	9: 43,005,594	T419A	probably damaging	Het
B3galt2	A	T	1: 143,647,334	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
C4b	G	A	17: 34,734,219		probably benign	Het
Cacna1e	A	T	1: 154,448,947		probably null	Het
Cdh3	T	C	8: 106,511,225	V17A	probably benign	Het
Cog7	A	T	7: 121,951,164	L379Q	probably damaging	Het
Cul9	T	C	17: 46,526,410	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,635,874	D258N	probably damaging	Het
Ddx39	T	C	8: 83,720,550	V113A	probably benign	Het
Dennd4b	A	T	3: 90,272,364	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,714,215	T334A	probably benign	Het
Dsg3	T	C	18: 20,536,825	L632S	probably damaging	Het
Dtx4	G	A	19: 12,486,482	T312I	probably damaging	Het
Dusp18	C	T	11: 3,897,243	R78C	probably benign	Het
Fes	A	C	7: 80,383,895	F203V	probably benign	Het
Fhad1	C	A	4: 141,929,646		probably benign	Het
Gjb2	T	C	14: 57,100,069		silent	Het
Gm5828	T	C	1: 16,768,355		noncoding transcript	Het
Gsdma	A	C	11: 98,666,254	E65A	probably damaging	Het
Hck	T	A	2: 153,134,220		probably null	Het
Henmt1	A	T	3: 108,953,802	H47L	probably damaging	Het
Hivep2	T	C	10: 14,129,355	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,814,192		probably benign	Het
Igsf3	T	C	3: 101,435,601	I518T	probably damaging	Het
Ireb2	T	C	9: 54,885,909	F223L	probably benign	Het
Isoc2a	T	C	7: 4,891,332		probably null	Het
Krt73	T	A	15: 101,800,773	R200W	probably damaging	Het
Lgals9	T	A	11: 78,963,535	I308F	probably damaging	Het
Lrp1	A	G	10: 127,593,942	F420L	probably damaging	Het
Mep1b	T	C	18: 21,095,107		probably benign	Het
Mex3a	G	T	3: 88,536,255	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558	F218L	probably damaging	Het
Ncf1	G	T	5: 134,227,137		probably benign	Het
Notch2	A	G	3: 98,146,117	D2032G	probably damaging	Het
Olfr1505	A	C	19: 13,919,250	I77L	probably damaging	Het
Olfr491	A	G	7: 108,316,995	I34V	probably benign	Het
Olfr63	T	C	17: 33,269,497	S258P	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Pex5	A	T	6: 124,398,489	W525R	probably damaging	Het
Plcb4	T	A	2: 135,976,211	I799N	probably damaging	Het
Polg2	C	A	11: 106,777,526	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,671	G594A	probably damaging	Het
Prss1	A	G	6: 41,463,588	D199G	probably damaging	Het
Rbms2	T	A	10: 128,137,954	Q207L	probably benign	Het
Retreg2	A	G	1: 75,146,430	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,418,068	C622G	probably benign	Het
Spdya	T	A	17: 71,558,640	D84E	probably damaging	Het
Stat3	A	T	11: 100,895,156	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,898,200	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,652		probably benign	Het
Tnrc6c	A	C	11: 117,752,985	N1481H	probably damaging	Het
Top3b	T	C	16: 16,883,525	S234P	probably damaging	Het
Tor1aip2	A	T	1: 156,059,548	T10S	probably benign	Het
Tpsab1	T	A	17: 25,343,444	H303L	probably benign	Het
Traf3	T	A	12: 111,261,576	V407D	probably damaging	Het
Trim33	T	A	3: 103,352,101	D1035E	probably benign	Het
Ttc38	T	C	15: 85,853,719	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,355,457	R646H	possibly damaging	Het
Usp8	C	A	2: 126,755,089		probably benign	Het
Zdbf2	A	T	1: 63,308,074	I1871F	probably benign	Het
Zfp345	T	A	2: 150,472,555	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402		probably benign	Het
Zfp81	G	A	17: 33,335,121	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,765,168	D266G	possibly damaging	Het

Other mutations in Poldip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Poldip3	APN	15	83138479	missense	probably damaging	1.00
IGL02887:Poldip3	APN	15	83129268	unclassified	probably benign
R0201:Poldip3	UTSW	15	83135296	missense	probably benign	0.00
R0511:Poldip3	UTSW	15	83138235	missense	probably damaging	1.00
R1560:Poldip3	UTSW	15	83138326	missense	probably damaging	1.00
R2302:Poldip3	UTSW	15	83129268	unclassified	probably benign
R3755:Poldip3	UTSW	15	83131475	unclassified	probably benign
R3756:Poldip3	UTSW	15	83131475	unclassified	probably benign
R4785:Poldip3	UTSW	15	83131501	missense	probably damaging	1.00
R4917:Poldip3	UTSW	15	83132575	critical splice donor site	probably null
R4965:Poldip3	UTSW	15	83137505	missense	possibly damaging	0.80
R5009:Poldip3	UTSW	15	83133194	missense	probably damaging	1.00
R5030:Poldip3	UTSW	15	83138191	missense	possibly damaging	0.67
R5992:Poldip3	UTSW	15	83129229	missense	probably damaging	0.96
R6638:Poldip3	UTSW	15	83133200	missense	probably damaging	1.00
R7028:Poldip3	UTSW	15	83131497	missense	probably damaging	1.00
R9377:Poldip3	UTSW	15	83135388	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGACAAACACAGCCTACCTTGATGATG -3'
(R):5'- TCAAAGATGCTCAGGGGACCTCAC -3'

Sequencing Primer
(F):5'- CAGCCTACCTTGATGATGAATGG -3'
(R):5'- AGCCCCTCAGTGAAAAAGGA -3'

Posted On

2013-04-16