Incidental Mutation 'IGL01526:Bpnt1'
ID89576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpnt1
Ensembl Gene ENSMUSG00000026617
Gene Namebisphosphate 3'-nucleotidase 1
SynonymsBPntase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.321) question?
Stock #IGL01526
Quality Score
Status
Chromosome1
Chromosomal Location185332149-185357777 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 185345394 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 102 (S102*)
Ref Sequence ENSEMBL: ENSMUSP00000147674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027916] [ENSMUST00000110965] [ENSMUST00000151769] [ENSMUST00000210277]
Predicted Effect probably null
Transcript: ENSMUST00000027916
AA Change: S102*
SMART Domains Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: S102*

DomainStartEndE-ValueType
Pfam:Inositol_P 8 303 7.1e-65 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110965
AA Change: S47*
SMART Domains Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
AA Change: S47*

DomainStartEndE-ValueType
Pfam:Inositol_P 1 248 2.8e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137757
Predicted Effect probably benign
Transcript: ENSMUST00000151769
SMART Domains Protein: ENSMUSP00000117122
Gene: ENSMUSG00000026617

DomainStartEndE-ValueType
Pfam:Inositol_P 8 83 1.7e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000210277
AA Change: S102*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop severe liver pathologies, including hypoproteinemia, abnormal hepatocellular morphology and damage, and in severe cases, whole body edema and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Bpnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Bpnt1 APN 1 185354021 nonsense probably null
IGL01613:Bpnt1 APN 1 185353994 missense possibly damaging 0.95
IGL01642:Bpnt1 APN 1 185354041 missense probably benign 0.04
IGL02386:Bpnt1 APN 1 185338175 missense probably damaging 0.97
R0054:Bpnt1 UTSW 1 185341216 splice site probably benign
R0398:Bpnt1 UTSW 1 185338158 missense probably benign 0.00
R0646:Bpnt1 UTSW 1 185345426 splice site probably null
R0671:Bpnt1 UTSW 1 185356611 missense probably benign
R2944:Bpnt1 UTSW 1 185352209 missense probably damaging 1.00
R4214:Bpnt1 UTSW 1 185345429 splice site probably benign
R4323:Bpnt1 UTSW 1 185356589 missense probably benign 0.09
R4805:Bpnt1 UTSW 1 185345307 splice site probably null
R7000:Bpnt1 UTSW 1 185349856 missense probably damaging 0.98
R7532:Bpnt1 UTSW 1 185352326 missense possibly damaging 0.62
R7672:Bpnt1 UTSW 1 185346682 missense probably damaging 0.98
R8080:Bpnt1 UTSW 1 185352209 missense probably damaging 1.00
Z1177:Bpnt1 UTSW 1 185352269 missense probably damaging 0.98
Posted On2013-12-03