Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Poldip3'

13084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Poldip3

Ensembl Gene

ENSMUSG00000041815

Gene Name

polymerase (DNA-directed), delta interacting protein 3

Synonyms

1110008P04Rik, PDIP46

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

83125976-83149384 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83138479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 35 (G35R)

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: G35R

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

SMART Domains

Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815
AA Change: G35R

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: G35R

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

SMART Domains

Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815
AA Change: G35R

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: G35R

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

SMART Domains

Protein: ENSMUSP00000120859
Gene: ENSMUSG00000041815
AA Change: G35R

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,422,367 (GRCm38)	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805 (GRCm38)	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367 (GRCm38)	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630 (GRCm38)	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459 (GRCm38)	Y411C	probably damaging	Het
Blnk	T	A	19: 40,934,446 (GRCm38)	K412M	probably benign	Het
Clpb	C	T	7: 101,778,608 (GRCm38)	R387*	probably null	Het
Dach1	A	T	14: 97,901,422 (GRCm38)	N528K	possibly damaging	Het
Dag1	A	T	9: 108,209,619 (GRCm38)	W108R	probably damaging	Het
Fbn2	T	C	18: 58,095,988 (GRCm38)	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249 (GRCm38)	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291 (GRCm38)		probably null	Het
Gpr158	A	T	2: 21,826,818 (GRCm38)	K910*	probably null	Het
Grb14	G	A	2: 64,914,718 (GRCm38)	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221 (GRCm38)	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940 (GRCm38)	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564 (GRCm38)	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205 (GRCm38)	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975 (GRCm38)	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051 (GRCm38)	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295 (GRCm38)	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130 (GRCm38)	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077 (GRCm38)		probably benign	Het
Med15	G	A	16: 17,653,487 (GRCm38)	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999 (GRCm38)	E274*	probably null	Het
Nup210l	A	T	3: 90,190,849 (GRCm38)		probably benign	Het
Pgghg	T	C	7: 140,945,351 (GRCm38)		probably null	Het
Plpp1	A	G	13: 112,851,506 (GRCm38)	I54M	probably damaging	Het
Ppig	A	T	2: 69,732,924 (GRCm38)	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371 (GRCm38)	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247 (GRCm38)	I142V	probably benign	Het
Ralgps1	A	T	2: 33,273,627 (GRCm38)	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,875,092 (GRCm38)		probably null	Het
Sema3d	G	A	5: 12,524,326 (GRCm38)	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739 (GRCm38)	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648 (GRCm38)	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,841,856 (GRCm38)	D145V	probably benign	Het
Trpc4	C	T	3: 54,302,175 (GRCm38)	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537 (GRCm38)	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114 (GRCm38)	Q161L	probably benign	Het

Other mutations in Poldip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Poldip3	APN	15	83,129,268 (GRCm38)	unclassified	probably benign
R0143:Poldip3	UTSW	15	83,127,943 (GRCm38)	missense	probably damaging	1.00
R0201:Poldip3	UTSW	15	83,135,296 (GRCm38)	missense	probably benign	0.00
R0511:Poldip3	UTSW	15	83,138,235 (GRCm38)	missense	probably damaging	1.00
R1560:Poldip3	UTSW	15	83,138,326 (GRCm38)	missense	probably damaging	1.00
R2302:Poldip3	UTSW	15	83,129,268 (GRCm38)	unclassified	probably benign
R3755:Poldip3	UTSW	15	83,131,475 (GRCm38)	unclassified	probably benign
R3756:Poldip3	UTSW	15	83,131,475 (GRCm38)	unclassified	probably benign
R4785:Poldip3	UTSW	15	83,131,501 (GRCm38)	missense	probably damaging	1.00
R4917:Poldip3	UTSW	15	83,132,575 (GRCm38)	critical splice donor site	probably null
R4965:Poldip3	UTSW	15	83,137,505 (GRCm38)	missense	possibly damaging	0.80
R5009:Poldip3	UTSW	15	83,133,194 (GRCm38)	missense	probably damaging	1.00
R5030:Poldip3	UTSW	15	83,138,191 (GRCm38)	missense	possibly damaging	0.67
R5992:Poldip3	UTSW	15	83,129,229 (GRCm38)	missense	probably damaging	0.96
R6638:Poldip3	UTSW	15	83,133,200 (GRCm38)	missense	probably damaging	1.00
R7028:Poldip3	UTSW	15	83,131,497 (GRCm38)	missense	probably damaging	1.00
R9377:Poldip3	UTSW	15	83,135,388 (GRCm38)	missense	probably benign	0.00

Posted On

2012-12-06