Mutagenetix > Incidental Mutation

Incidental Mutation 'R1560:Poldip3'

170576

Institutional Source

Beutler Lab

Gene Symbol

Poldip3

Ensembl Gene

ENSMUSG00000041815

Gene Name

polymerase (DNA-directed), delta interacting protein 3

Synonyms

1110008P04Rik, PDIP46

MMRRC Submission

039599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R1560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83010177-83033585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83022527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 86 (R86W)

Ref Sequence

ENSEMBL: ENSMUSP00000120859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000129372]

AlphaFold

Q8BG81

Predicted Effect

probably damaging
Transcript: ENSMUST00000058793
AA Change: R86W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815
AA Change: R86W

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: R86W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815
AA Change: R86W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129372
AA Change: R86W

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

SMART Domains

Protein: ENSMUSP00000120859
Gene: ENSMUSG00000041815
AA Change: R86W

Domain	Start	End	E-Value	Type
low complexity region	153	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150926

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,466 (GRCm39)	T390A	probably benign	Het
Adamts8	T	A	9: 30,867,963 (GRCm39)	C596S	probably damaging	Het
Avl9	T	A	6: 56,702,113 (GRCm39)	Y89*	probably null	Het
Cacna1e	G	A	1: 154,296,850 (GRCm39)	R18*	probably null	Het
Cacng2	A	G	15: 77,897,518 (GRCm39)	F97S	probably benign	Het
Calu	A	G	6: 29,361,657 (GRCm39)	D107G	probably benign	Het
Capns2	G	A	8: 93,628,771 (GRCm39)	R220Q	probably damaging	Het
Catsperb	C	T	12: 101,591,985 (GRCm39)	T1105I	probably benign	Het
Cep350	T	C	1: 155,804,825 (GRCm39)	N753D	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah5	G	T	15: 28,420,149 (GRCm39)	V3816F	probably damaging	Het
Dzip3	T	C	16: 48,771,903 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,818,972 (GRCm39)		probably null	Het
Epb41l2	T	A	10: 25,371,334 (GRCm39)		probably null	Het
Fetub	T	C	16: 22,758,117 (GRCm39)	V300A	probably benign	Het
Gabrb3	A	T	7: 57,466,043 (GRCm39)	M308L	probably damaging	Het
Galnt16	A	T	12: 80,648,566 (GRCm39)	D546V	possibly damaging	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gpr158	A	G	2: 21,831,125 (GRCm39)	K742E	probably damaging	Het
Hmbs	T	C	9: 44,248,657 (GRCm39)	H72R	possibly damaging	Het
Krt16	A	G	11: 100,137,475 (GRCm39)	I410T	probably damaging	Het
Lamb3	G	A	1: 193,021,710 (GRCm39)	A971T	probably benign	Het
Lilra6	A	C	7: 3,914,407 (GRCm39)		probably null	Het
Mroh7	A	T	4: 106,568,451 (GRCm39)	M418K	possibly damaging	Het
Myh11	T	A	16: 14,044,484 (GRCm39)	K640*	probably null	Het
Nsd1	T	A	13: 55,394,533 (GRCm39)	C711*	probably null	Het
Or1j17	T	A	2: 36,578,155 (GRCm39)	L47Q	probably damaging	Het
Or2ak5	A	T	11: 58,611,513 (GRCm39)	Y120*	probably null	Het
Or3a10	A	G	11: 73,935,441 (GRCm39)	S220P	probably damaging	Het
Or4c111	T	C	2: 88,843,550 (GRCm39)	Y286C	probably damaging	Het
Otop3	A	T	11: 115,235,289 (GRCm39)	H307L	possibly damaging	Het
Plekhm3	T	C	1: 64,976,976 (GRCm39)	T165A	probably benign	Het
Rif1	A	T	2: 52,001,143 (GRCm39)	R1532S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc27a6	T	A	18: 58,712,904 (GRCm39)	L242*	probably null	Het
Spata45	T	C	1: 190,772,017 (GRCm39)	S80P	probably benign	Het
Taf4	A	G	2: 179,577,746 (GRCm39)	V525A	probably benign	Het
Tbck	A	G	3: 132,543,809 (GRCm39)	T887A	probably damaging	Het
Tnrc6c	C	T	11: 117,650,463 (GRCm39)	T1571I	probably damaging	Het
Trim38	A	G	13: 23,966,685 (GRCm39)	Y44C	probably benign	Het
Tsg101	A	T	7: 46,542,208 (GRCm39)		probably null	Het
Tsku	T	A	7: 98,002,151 (GRCm39)	D60V	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Upf1	G	A	8: 70,791,092 (GRCm39)	P550L	probably damaging	Het
Vipr2	A	G	12: 116,058,401 (GRCm39)	D106G	probably benign	Het
Vps13c	T	C	9: 67,843,745 (GRCm39)		probably null	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Wdr81	C	T	11: 75,342,449 (GRCm39)	W939*	probably null	Het
Zfp512b	T	C	2: 181,230,472 (GRCm39)	T473A	probably benign	Het

Other mutations in Poldip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Poldip3	APN	15	83,022,680 (GRCm39)	missense	probably damaging	1.00
IGL02887:Poldip3	APN	15	83,013,469 (GRCm39)	unclassified	probably benign
R0143:Poldip3	UTSW	15	83,012,144 (GRCm39)	missense	probably damaging	1.00
R0201:Poldip3	UTSW	15	83,019,497 (GRCm39)	missense	probably benign	0.00
R0511:Poldip3	UTSW	15	83,022,436 (GRCm39)	missense	probably damaging	1.00
R2302:Poldip3	UTSW	15	83,013,469 (GRCm39)	unclassified	probably benign
R3755:Poldip3	UTSW	15	83,015,676 (GRCm39)	unclassified	probably benign
R3756:Poldip3	UTSW	15	83,015,676 (GRCm39)	unclassified	probably benign
R4785:Poldip3	UTSW	15	83,015,702 (GRCm39)	missense	probably damaging	1.00
R4917:Poldip3	UTSW	15	83,016,776 (GRCm39)	critical splice donor site	probably null
R4965:Poldip3	UTSW	15	83,021,706 (GRCm39)	missense	possibly damaging	0.80
R5009:Poldip3	UTSW	15	83,017,395 (GRCm39)	missense	probably damaging	1.00
R5030:Poldip3	UTSW	15	83,022,392 (GRCm39)	missense	possibly damaging	0.67
R5992:Poldip3	UTSW	15	83,013,430 (GRCm39)	missense	probably damaging	0.96
R6638:Poldip3	UTSW	15	83,017,401 (GRCm39)	missense	probably damaging	1.00
R7028:Poldip3	UTSW	15	83,015,698 (GRCm39)	missense	probably damaging	1.00
R9377:Poldip3	UTSW	15	83,019,589 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTGGACCAACATCTGGAACAAAC -3'
(R):5'- TCAGTGTCAGGCCAGGAATTGGAG -3'

Sequencing Primer
(F):5'- CACAACCTACCTGGATAGTTTTGG -3'
(R):5'- CCAGGAATTGGAGGTGTCC -3'

Posted On

2014-04-13