Incidental Mutation 'IGL01526:Bpnt1'
| ID |
89576 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bpnt1
|
| Ensembl Gene |
ENSMUSG00000026617 |
| Gene Name |
3'(2'), 5'-bisphosphate nucleotidase 1 |
| Synonyms |
bisphosphate 3'-nucleotidase 1, BPntase |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
185064346-185089974 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 185077591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q9Z0S1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027916
AA Change: S102*
|
| SMART Domains |
Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: S102*
| Domain | Start | End | E-Value | Type |
|---|
|
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*
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
| Other mutations in Bpnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Bpnt1
|
APN |
1 |
185,086,218 (GRCm39) |
nonsense |
probably null |
|
|
IGL01613:Bpnt1
|
APN |
1 |
185,086,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01642:Bpnt1
|
APN |
1 |
185,086,238 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02386:Bpnt1
|
APN |
1 |
185,070,372 (GRCm39) |
missense |
probably damaging |
0.97 |
|
doktor
|
UTSW |
1 |
185,088,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
wikken
|
UTSW |
1 |
185,077,504 (GRCm39) |
splice site |
probably null |
|
|
R0054:Bpnt1
|
UTSW |
1 |
185,073,413 (GRCm39) |
splice site |
probably benign |
|
|
R0398:Bpnt1
|
UTSW |
1 |
185,070,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0646:Bpnt1
|
UTSW |
1 |
185,077,623 (GRCm39) |
splice site |
probably null |
|
|
R0671:Bpnt1
|
UTSW |
1 |
185,088,808 (GRCm39) |
missense |
probably benign |
|
|
R2944:Bpnt1
|
UTSW |
1 |
185,084,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Bpnt1
|
UTSW |
1 |
185,077,626 (GRCm39) |
splice site |
probably benign |
|
|
R4323:Bpnt1
|
UTSW |
1 |
185,088,786 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4805:Bpnt1
|
UTSW |
1 |
185,077,504 (GRCm39) |
splice site |
probably null |
|
|
R7000:Bpnt1
|
UTSW |
1 |
185,082,053 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7532:Bpnt1
|
UTSW |
1 |
185,084,523 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7672:Bpnt1
|
UTSW |
1 |
185,078,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8080:Bpnt1
|
UTSW |
1 |
185,084,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Bpnt1
|
UTSW |
1 |
185,070,335 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9523:Bpnt1
|
UTSW |
1 |
185,077,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Bpnt1
|
UTSW |
1 |
185,084,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-12-03 |
Incidental Mutation