Incidental Mutation 'K7371:Alpi'
ID |
7877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpi
|
Ensembl Gene |
ENSMUSG00000079440 |
Gene Name |
alkaline phosphatase, intestinal |
Synonyms |
2010001C14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
K7371
of strain
614
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
87025724-87029328 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 87026893 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113270]
|
AlphaFold |
F8VPQ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113270
|
SMART Domains |
Protein: ENSMUSP00000108895 Gene: ENSMUSG00000079440
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
alkPPc
|
54 |
489 |
7.97e-247 |
SMART |
low complexity region
|
509 |
532 |
N/A |
INTRINSIC |
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186823
|
Coding Region Coverage |
|
Validation Efficiency |
72% (67/93) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,767 (GRCm39) |
Y155C |
probably benign |
Homo |
Ap4e1 |
T |
A |
2: 126,908,456 (GRCm39) |
|
probably benign |
Het |
Arhgdib |
A |
T |
6: 136,909,297 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
C |
2: 91,425,868 (GRCm39) |
|
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,457,289 (GRCm39) |
M1K |
probably null |
Het |
Ell3 |
T |
C |
2: 121,269,969 (GRCm39) |
H380R |
probably damaging |
Het |
Epx |
A |
G |
11: 87,755,710 (GRCm39) |
V658A |
probably damaging |
Homo |
Ern1 |
A |
T |
11: 106,291,101 (GRCm39) |
I858N |
probably damaging |
Homo |
Mtmr10 |
G |
A |
7: 63,963,958 (GRCm39) |
G231D |
probably benign |
Het |
Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Homo |
Opn5 |
A |
G |
17: 42,891,522 (GRCm39) |
I305T |
probably damaging |
Homo |
Pak2 |
T |
C |
16: 31,852,602 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,400,838 (GRCm39) |
I2204K |
possibly damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,363,463 (GRCm39) |
T628S |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,744,453 (GRCm39) |
|
probably benign |
Het |
Stab1 |
G |
A |
14: 30,872,206 (GRCm39) |
L1194F |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,779,153 (GRCm39) |
|
probably null |
Homo |
Tet1 |
T |
C |
10: 62,714,955 (GRCm39) |
D280G |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,918,298 (GRCm39) |
I227T |
probably benign |
Homo |
Wdr87-ps |
A |
G |
7: 29,230,417 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Alpi |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00330:Alpi
|
APN |
1 |
87,027,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01972:Alpi
|
APN |
1 |
87,027,431 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02672:Alpi
|
APN |
1 |
87,028,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03089:Alpi
|
APN |
1 |
87,027,830 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03099:Alpi
|
APN |
1 |
87,026,353 (GRCm39) |
missense |
unknown |
|
IGL03154:Alpi
|
APN |
1 |
87,027,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03372:Alpi
|
APN |
1 |
87,028,350 (GRCm39) |
splice site |
probably benign |
|
R0053:Alpi
|
UTSW |
1 |
87,026,512 (GRCm39) |
missense |
probably benign |
0.03 |
R0054:Alpi
|
UTSW |
1 |
87,027,487 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0070:Alpi
|
UTSW |
1 |
87,028,881 (GRCm39) |
splice site |
probably benign |
|
R1586:Alpi
|
UTSW |
1 |
87,027,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Alpi
|
UTSW |
1 |
87,027,136 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2372:Alpi
|
UTSW |
1 |
87,028,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R4546:Alpi
|
UTSW |
1 |
87,026,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R4861:Alpi
|
UTSW |
1 |
87,028,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R4861:Alpi
|
UTSW |
1 |
87,028,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R4968:Alpi
|
UTSW |
1 |
87,029,247 (GRCm39) |
missense |
probably benign |
0.05 |
R5427:Alpi
|
UTSW |
1 |
87,029,076 (GRCm39) |
missense |
probably benign |
0.04 |
R6245:Alpi
|
UTSW |
1 |
87,028,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R6394:Alpi
|
UTSW |
1 |
87,028,428 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6398:Alpi
|
UTSW |
1 |
87,027,184 (GRCm39) |
missense |
probably damaging |
0.98 |
R6616:Alpi
|
UTSW |
1 |
87,028,836 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7168:Alpi
|
UTSW |
1 |
87,027,155 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7448:Alpi
|
UTSW |
1 |
87,029,257 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
R7473:Alpi
|
UTSW |
1 |
87,027,369 (GRCm39) |
critical splice donor site |
probably null |
|
R7527:Alpi
|
UTSW |
1 |
87,026,677 (GRCm39) |
missense |
probably benign |
0.01 |
R7552:Alpi
|
UTSW |
1 |
87,026,795 (GRCm39) |
missense |
probably benign |
0.00 |
R8008:Alpi
|
UTSW |
1 |
87,026,384 (GRCm39) |
missense |
unknown |
|
R8693:Alpi
|
UTSW |
1 |
87,026,405 (GRCm39) |
missense |
unknown |
|
R8698:Alpi
|
UTSW |
1 |
87,028,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R9071:Alpi
|
UTSW |
1 |
87,026,584 (GRCm39) |
missense |
probably damaging |
0.97 |
R9342:Alpi
|
UTSW |
1 |
87,026,386 (GRCm39) |
missense |
unknown |
|
R9528:Alpi
|
UTSW |
1 |
87,026,772 (GRCm39) |
critical splice donor site |
probably null |
|
R9733:Alpi
|
UTSW |
1 |
87,028,516 (GRCm39) |
missense |
probably benign |
0.09 |
X0052:Alpi
|
UTSW |
1 |
87,027,923 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:Alpi
|
UTSW |
1 |
87,028,800 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Alpi
|
UTSW |
1 |
87,026,794 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2012-11-12 |