Incidental Mutation 'R4323:Bpnt1'
| ID |
323897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bpnt1
|
| Ensembl Gene |
ENSMUSG00000026617 |
| Gene Name |
3'(2'), 5'-bisphosphate nucleotidase 1 |
| Synonyms |
bisphosphate 3'-nucleotidase 1, BPntase |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
185064346-185089974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 185088786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 312
(H312P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027916]
[ENSMUST00000110965]
[ENSMUST00000210277]
|
| AlphaFold |
Q9Z0S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027916
AA Change: H297P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027916
Gene: ENSMUSG00000026617
AA Change: H297P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
8 |
303 |
7.1e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110965
AA Change: H242P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106590
Gene: ENSMUSG00000026617
AA Change: H242P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Inositol_P
|
1 |
248 |
2.8e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195314
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210277
AA Change: H312P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
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 |
|
|
IGL01526:Bpnt1
|
APN |
1 |
185,077,591 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCCTCGAAACATCCTG -3'
(R):5'- TTAGGCAGGAGAAATGACAATCGTATC -3'
Sequencing Primer
(F):5'- GATCCAGCTGTCCACTGACTG -3'
(R):5'- AAGTCTTAAGCGTATTAGATGATGTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation