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: 0.162) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

83010177-83033585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83022680 bp (GRCm39)

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
Abi3bp	A	G	16: 56,423,168 (GRCm39)	D440G	probably null	Het
Acvrl1	T	A	15: 101,035,248 (GRCm39)	F258Y	probably damaging	Het
Ano1	A	G	7: 144,209,367 (GRCm39)	S278P	probably damaging	Het
Aoc1l3	A	G	6: 48,964,673 (GRCm39)	D227G	probably damaging	Het
AW146154	T	C	7: 41,129,883 (GRCm39)	Y411C	probably damaging	Het
Blnk	T	A	19: 40,922,890 (GRCm39)	K412M	probably benign	Het
Clpb	C	T	7: 101,427,815 (GRCm39)	R387*	probably null	Het
Dach1	A	T	14: 98,138,858 (GRCm39)	N528K	possibly damaging	Het
Dag1	A	T	9: 108,086,818 (GRCm39)	W108R	probably damaging	Het
Elapor2	A	G	5: 9,472,367 (GRCm39)	T355A	probably damaging	Het
Fbn2	T	C	18: 58,229,060 (GRCm39)	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,342,898 (GRCm39)	D394G	possibly damaging	Het
Gaa	T	A	11: 119,165,117 (GRCm39)		probably null	Het
Gpr158	A	T	2: 21,831,629 (GRCm39)	K910*	probably null	Het
Grb14	G	A	2: 64,745,062 (GRCm39)	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,615,729 (GRCm39)	D264G	probably benign	Het
Heatr3	A	G	8: 88,897,568 (GRCm39)	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,880,490 (GRCm39)	N407S	probably damaging	Het
Htr2a	A	T	14: 74,943,645 (GRCm39)	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,705,345 (GRCm39)	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,516,049 (GRCm39)	T2598I	probably benign	Het
Lcorl	T	C	5: 45,904,637 (GRCm39)	N137S	probably damaging	Het
Lef1	T	C	3: 130,986,779 (GRCm39)	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,188,359 (GRCm39)		probably benign	Het
Med15	G	A	16: 17,471,351 (GRCm39)	T642I	probably damaging	Het
Nasp	C	A	4: 116,461,196 (GRCm39)	E274*	probably null	Het
Nup210l	A	T	3: 90,098,156 (GRCm39)		probably benign	Het
Pgghg	T	C	7: 140,525,264 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,988,040 (GRCm39)	I54M	probably damaging	Het
Ppig	A	T	2: 69,563,268 (GRCm39)	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,646,630 (GRCm39)	T999K	probably damaging	Het
Rad9b	T	C	5: 122,482,310 (GRCm39)	I142V	probably benign	Het
Ralgps1	A	T	2: 33,163,639 (GRCm39)	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,710,961 (GRCm39)		probably null	Het
Sema3d	G	A	5: 12,574,293 (GRCm39)	R265Q	probably damaging	Het
Tdp1	T	C	12: 99,859,907 (GRCm39)	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,723,909 (GRCm39)	D145V	probably benign	Het
Trpc4	C	T	3: 54,209,596 (GRCm39)	P654S	probably damaging	Het
Yy1	T	G	12: 108,781,463 (GRCm39)	I376S	probably damaging	Het
Zfp773	T	A	7: 7,136,113 (GRCm39)	Q161L	probably benign	Het

Other mutations in Poldip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1560:Poldip3	UTSW	15	83,022,527 (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

Posted On

2012-12-06