Incidental Mutation 'IGL03099:Alpi'
| ID |
418673 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alpi
|
| Ensembl Gene |
ENSMUSG00000079440 |
| Gene Name |
alkaline phosphatase, intestinal |
| Synonyms |
2010001C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL03099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87025724-87029328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87026353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 546
(L546P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113270]
|
| AlphaFold |
F8VPQ6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000113270
AA Change: L546P
|
| SMART Domains |
Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: L546P
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
C |
A |
1: 87,055,328 (GRCm39) |
F458L |
probably benign |
Het |
| Arpc5l |
A |
G |
2: 38,903,844 (GRCm39) |
Y111C |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,877,462 (GRCm39) |
F296S |
possibly damaging |
Het |
| Bbof1 |
C |
T |
12: 84,473,539 (GRCm39) |
Q290* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,777,835 (GRCm39) |
T761S |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,424,328 (GRCm39) |
M143K |
possibly damaging |
Het |
| Daw1 |
T |
C |
1: 83,157,088 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,314,862 (GRCm39) |
N6498D |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,999,338 (GRCm39) |
L380P |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,344 (GRCm39) |
F602L |
probably benign |
Het |
| Gpatch1 |
A |
G |
7: 34,996,948 (GRCm39) |
S417P |
possibly damaging |
Het |
| Hjurp |
T |
C |
1: 88,194,011 (GRCm39) |
K223R |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,146 (GRCm39) |
C113Y |
probably damaging |
Het |
| Igkv4-71 |
T |
C |
6: 69,220,399 (GRCm39) |
M11V |
probably benign |
Het |
| Insr |
G |
T |
8: 3,308,715 (GRCm39) |
T107K |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,919,947 (GRCm39) |
T306M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,164,852 (GRCm39) |
I425V |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,408 (GRCm39) |
V95E |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,556,840 (GRCm39) |
M41K |
possibly damaging |
Het |
| Sos2 |
T |
A |
12: 69,663,133 (GRCm39) |
N588Y |
probably damaging |
Het |
| Srrm3 |
C |
A |
5: 135,898,152 (GRCm39) |
|
probably benign |
Het |
| Tbc1d19 |
G |
T |
5: 54,040,997 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,448 (GRCm39) |
K612* |
probably null |
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 |
|
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 |
|
|
K7371:Alpi
|
UTSW |
1 |
87,026,893 (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 |
2016-08-02 |
Incidental Mutation