Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00920:Pnpt1'

28518

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnpt1

Ensembl Gene

ENSMUSG00000020464

Gene Name

polyribonucleotide nucleotidyltransferase 1

Synonyms

PNPase, polynucleotide phosphorylase, 1200003F12Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00920

Quality Score

Status

Chromosome

Chromosomal Location

29130744-29161828 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 29157087 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020756]

PDB Structure

Solution structure of the alpha-helical domain from mouse hypothetical PNPase [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020756

SMART Domains

Protein: ENSMUSP00000020756
Gene: ENSMUSG00000020464

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
Pfam:RNase_PH	52	183	1.9e-16	PFAM
Pfam:RNase_PH_C	186	251	3.8e-13	PFAM
Pfam:PNPase	282	363	3.7e-9	PFAM
Pfam:RNase_PH	366	501	3.4e-22	PFAM
Pfam:RNase_PH_C	504	581	7.1e-6	PFAM
KH	604	669	8e-7	SMART
S1	677	750	2.15e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154924

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd209e	T	C	8: 3,849,187	D175G	probably damaging	Het
Cep78	T	C	19: 15,981,486	I165V	probably benign	Het
Coa7	G	T	4: 108,338,308	G145C	possibly damaging	Het
Dpp9	T	C	17: 56,200,599	T357A	probably benign	Het
Gm42416	T	A	18: 36,952,767	M1K	probably null	Het
Gm428	T	A	4: 73,687,442		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh5	A	T	12: 74,976,493	D600E	probably damaging	Het
Ndst4	A	G	3: 125,438,211	D143G	probably damaging	Het
Nrros	A	G	16: 32,147,620	F14S	probably benign	Het
Olfr1009	A	T	2: 85,722,239	Y278F	probably damaging	Het
Olfr971	T	C	9: 39,839,934	F167L	probably benign	Het
Pcdh7	A	T	5: 57,720,131	I343F	probably damaging	Het
Piwil4	C	T	9: 14,727,437	R264H	probably damaging	Het
Pycr2	T	A	1: 180,906,393		probably benign	Het
Rfx7	T	A	9: 72,593,356	Y133N	probably damaging	Het
Slc17a3	A	G	13: 23,856,481	I263V	probably benign	Het
Spink5	A	T	18: 44,003,209	E562D	probably damaging	Het
Spty2d1	T	C	7: 46,998,987	R65G	probably damaging	Het
Thbs1	C	T	2: 118,113,201	T100I	probably damaging	Het
Triml1	T	C	8: 43,138,682	N213S	probably damaging	Het
Trp53bp2	T	C	1: 182,444,654		probably benign	Het
Vmn2r9	T	C	5: 108,848,024	I253V	possibly damaging	Het
Zan	C	T	5: 137,464,524	V798I	unknown	Het
Zfp608	C	T	18: 54,889,831	M1504I	probably benign	Het

Other mutations in Pnpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Pnpt1	APN	11	29154217	critical splice donor site	probably null
IGL01358:Pnpt1	APN	11	29138425	missense	possibly damaging	0.95
IGL01454:Pnpt1	APN	11	29137142	missense	probably benign	0.19
IGL01622:Pnpt1	APN	11	29148272	splice site	probably benign
IGL01623:Pnpt1	APN	11	29148272	splice site	probably benign
IGL01674:Pnpt1	APN	11	29155787	missense	probably benign	0.00
IGL01802:Pnpt1	APN	11	29154306	missense	probably damaging	1.00
IGL02222:Pnpt1	APN	11	29159327	missense	possibly damaging	0.71
IGL02222:Pnpt1	APN	11	29130842	missense	probably benign	0.00
IGL02616:Pnpt1	APN	11	29135505	splice site	probably benign
IGL02859:Pnpt1	APN	11	29138162	missense	probably damaging	1.00
IGL02965:Pnpt1	APN	11	29156939	missense	probably damaging	0.98
IGL03121:Pnpt1	APN	11	29132845	missense	probably benign	0.03
PIT4651001:Pnpt1	UTSW	11	29156945	critical splice donor site	probably null
R1023:Pnpt1	UTSW	11	29141328	splice site	probably benign
R1477:Pnpt1	UTSW	11	29137102	missense	probably benign	0.14
R1524:Pnpt1	UTSW	11	29130776	missense	unknown
R1769:Pnpt1	UTSW	11	29154159	missense	probably benign	0.22
R1839:Pnpt1	UTSW	11	29154342	missense	possibly damaging	0.82
R1975:Pnpt1	UTSW	11	29141256	missense	probably benign	0.16
R1977:Pnpt1	UTSW	11	29141256	missense	probably benign	0.16
R1996:Pnpt1	UTSW	11	29141679	missense	probably benign	0.01
R3771:Pnpt1	UTSW	11	29138174	missense	probably benign	0.05
R4346:Pnpt1	UTSW	11	29145478	missense	probably damaging	1.00
R4423:Pnpt1	UTSW	11	29153375	splice site	probably null
R5354:Pnpt1	UTSW	11	29154166	missense	probably damaging	1.00
R5503:Pnpt1	UTSW	11	29138156	missense	probably damaging	1.00
R5514:Pnpt1	UTSW	11	29153246	missense	possibly damaging	0.82
R5908:Pnpt1	UTSW	11	29130887	missense	probably benign	0.00
R6225:Pnpt1	UTSW	11	29145469	missense	probably benign	0.38
R6605:Pnpt1	UTSW	11	29138567	missense	possibly damaging	0.69
R7096:Pnpt1	UTSW	11	29154867	missense	probably benign	0.03
R7214:Pnpt1	UTSW	11	29137285	missense	probably damaging	1.00
R7365:Pnpt1	UTSW	11	29161334	missense	probably damaging	1.00
R7492:Pnpt1	UTSW	11	29135522	missense	probably benign	0.01
R7497:Pnpt1	UTSW	11	29130860	missense	probably benign	0.00
R7686:Pnpt1	UTSW	11	29157070	missense	probably damaging	0.97
R8166:Pnpt1	UTSW	11	29156875	missense	probably benign
R8309:Pnpt1	UTSW	11	29153277	missense	probably benign	0.01
R8389:Pnpt1	UTSW	11	29130758	start codon destroyed	unknown
Z1176:Pnpt1	UTSW	11	29145475	missense	probably benign	0.00
Z1176:Pnpt1	UTSW	11	29145477	missense	possibly damaging	0.80

Posted On

2013-04-17