Incidental Mutation 'IGL03089:Alpi'
| ID |
418301 |
| 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 # |
IGL03089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87025724-87029328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87027830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 250
(D250V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113270]
|
| AlphaFold |
F8VPQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113270
AA Change: D250V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: D250V
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
A |
G |
3: 95,584,556 (GRCm39) |
S947P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,574,672 (GRCm39) |
H709L |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,023,740 (GRCm39) |
S735G |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,594,848 (GRCm39) |
I611L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,309 (GRCm39) |
V253A |
possibly damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,361,873 (GRCm39) |
I383N |
probably damaging |
Het |
| Ccn3 |
C |
T |
15: 54,612,680 (GRCm39) |
R230C |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,767,513 (GRCm39) |
Y519C |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,703,806 (GRCm39) |
N96K |
probably benign |
Het |
| Clptm1 |
A |
G |
7: 19,371,072 (GRCm39) |
Y355H |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,811,038 (GRCm39) |
S827N |
unknown |
Het |
| Cyp21a1 |
G |
T |
17: 35,022,420 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
T |
G |
2: 170,327,886 (GRCm39) |
H452P |
probably damaging |
Het |
| Cyp2c39 |
T |
A |
19: 39,552,295 (GRCm39) |
H329Q |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,664 (GRCm39) |
R412Q |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 139,029,767 (GRCm39) |
R308Q |
possibly damaging |
Het |
| Deup1 |
T |
C |
9: 15,519,096 (GRCm39) |
S137G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,712,778 (GRCm39) |
I1583N |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,939,609 (GRCm39) |
V320M |
probably damaging |
Het |
| Elmod3 |
A |
G |
6: 72,546,299 (GRCm39) |
S254P |
probably damaging |
Het |
| Emsy |
G |
A |
7: 98,286,473 (GRCm39) |
Q226* |
probably null |
Het |
| Ephb6 |
C |
A |
6: 41,591,108 (GRCm39) |
D88E |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,005 (GRCm39) |
M182V |
possibly damaging |
Het |
| Fbxw4 |
T |
G |
19: 45,580,160 (GRCm39) |
|
probably benign |
Het |
| Fgr |
A |
G |
4: 132,713,577 (GRCm39) |
D35G |
probably damaging |
Het |
| Gm20547 |
A |
T |
17: 35,080,008 (GRCm39) |
D366E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,988 (GRCm39) |
N599S |
probably damaging |
Het |
| Ighg2b |
G |
A |
12: 113,270,298 (GRCm39) |
P240L |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,138,727 (GRCm39) |
D975G |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,908,283 (GRCm39) |
N24K |
probably benign |
Het |
| Letm1 |
T |
A |
5: 33,918,202 (GRCm39) |
E314D |
probably damaging |
Het |
| Lin54 |
A |
T |
5: 100,598,852 (GRCm39) |
F319L |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,670,314 (GRCm39) |
|
probably null |
Het |
| Lvrn |
T |
C |
18: 47,013,776 (GRCm39) |
F486S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,009 (GRCm39) |
T267A |
probably benign |
Het |
| Or2h1b |
A |
G |
17: 37,462,534 (GRCm39) |
C110R |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,357 (GRCm39) |
R138G |
probably benign |
Het |
| Or51m1 |
A |
C |
7: 103,578,329 (GRCm39) |
I100L |
probably benign |
Het |
| Or8g54 |
A |
T |
9: 39,706,977 (GRCm39) |
Y102F |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,452,703 (GRCm39) |
T45A |
probably benign |
Het |
| Sap30bp |
T |
A |
11: 115,848,214 (GRCm39) |
M112K |
possibly damaging |
Het |
| Sbno1 |
A |
G |
5: 124,525,374 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,950,338 (GRCm39) |
I307V |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,080,963 (GRCm39) |
D21E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,396,958 (GRCm39) |
F614S |
possibly damaging |
Het |
| Usp39 |
A |
C |
6: 72,305,622 (GRCm39) |
F387C |
probably damaging |
Het |
| Vipas39 |
C |
T |
12: 87,300,028 (GRCm39) |
C149Y |
probably damaging |
Het |
| Vmn2r107 |
C |
A |
17: 20,595,974 (GRCm39) |
H842Q |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,123,658 (GRCm39) |
V195E |
probably benign |
Het |
| Vsx1 |
A |
G |
2: 150,527,510 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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