Incidental Mutation 'R9071:Alpi'
| ID |
689521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpi
|
| Ensembl Gene |
ENSMUSG00000079440 |
| Gene Name |
alkaline phosphatase, intestinal |
| Synonyms |
2010001C14Rik |
| MMRRC Submission |
068893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R9071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87025724-87029328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87026584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 469
(V469A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113270]
|
| AlphaFold |
F8VPQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113270
AA Change: V469A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: V469A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
T |
7: 41,274,783 (GRCm39) |
R162L |
probably benign |
Het |
| Amotl2 |
G |
T |
9: 102,595,892 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,625,418 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
G |
T |
1: 87,683,907 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
C |
A |
12: 105,625,099 (GRCm39) |
E626* |
probably null |
Het |
| B3galt9 |
T |
C |
2: 34,728,435 (GRCm39) |
V78A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
G |
A |
10: 41,457,174 (GRCm39) |
Q1588* |
probably null |
Het |
| Cd3d |
A |
T |
9: 44,896,340 (GRCm39) |
H43L |
probably benign |
Het |
| Cenpk |
C |
T |
13: 104,378,870 (GRCm39) |
Q164* |
probably null |
Het |
| Clybl |
C |
A |
14: 122,608,697 (GRCm39) |
D96E |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,546,939 (GRCm39) |
V511A |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,064,133 (GRCm39) |
I282N |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,818,542 (GRCm39) |
N1433D |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,159,121 (GRCm39) |
I516F |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,837,379 (GRCm39) |
T1030A |
probably benign |
Het |
| Cyp2d10 |
T |
C |
15: 82,288,361 (GRCm39) |
T313A |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,450,736 (GRCm39) |
N549K |
probably damaging |
Het |
| Ddx41 |
A |
G |
13: 55,680,219 (GRCm39) |
V391A |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,751,634 (GRCm39) |
D1227G |
unknown |
Het |
| Fam83f |
T |
C |
15: 80,576,206 (GRCm39) |
Y286H |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,324 (GRCm39) |
D647G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,598 (GRCm39) |
V3750A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,178,364 (GRCm39) |
S14P |
probably damaging |
Het |
| Hgsnat |
A |
G |
8: 26,436,302 (GRCm39) |
V584A |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,764 (GRCm39) |
F325I |
unknown |
Het |
| Igfals |
A |
T |
17: 25,099,670 (GRCm39) |
I254F |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,705,803 (GRCm39) |
Y243H |
possibly damaging |
Het |
| Mki67 |
G |
C |
7: 135,301,205 (GRCm39) |
D1276E |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,709,364 (GRCm39) |
K62* |
probably null |
Het |
| Msto1 |
C |
A |
3: 88,812,414 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,448,420 (GRCm39) |
D697V |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,892,781 (GRCm39) |
V356E |
probably damaging |
Het |
| Nell2 |
T |
A |
15: 95,244,682 (GRCm39) |
K472* |
probably null |
Het |
| Nfe2l3 |
A |
C |
6: 51,434,243 (GRCm39) |
S268R |
probably benign |
Het |
| Or8b43 |
T |
C |
9: 38,361,032 (GRCm39) |
I288T |
possibly damaging |
Het |
| Osbpl10 |
G |
T |
9: 114,890,908 (GRCm39) |
V99L |
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,485,048 (GRCm39) |
I537M |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,729,076 (GRCm39) |
L770P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,771,803 (GRCm39) |
D371G |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,282,154 (GRCm39) |
K430R |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,573,603 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,196,052 (GRCm39) |
I317N |
possibly damaging |
Het |
| Spata4 |
T |
G |
8: 55,055,742 (GRCm39) |
F211C |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,433,982 (GRCm39) |
E929G |
probably benign |
Het |
| Sult1e1 |
A |
C |
5: 87,735,681 (GRCm39) |
|
probably benign |
Het |
| Tas2r125 |
A |
T |
6: 132,887,400 (GRCm39) |
N263Y |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,370,224 (GRCm39) |
L456* |
probably null |
Het |
| Wdr20rt |
G |
A |
12: 65,274,222 (GRCm39) |
V562I |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,677,964 (GRCm39) |
*983Q |
probably null |
Het |
| Zfp28 |
T |
A |
7: 6,397,544 (GRCm39) |
C660S |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGCAGTTGCAAGGACAG -3'
(R):5'- AGTACCACATCATTGCCTAGC -3'
Sequencing Primer
(F):5'- ACAGCAGGACAGTGGCCTG -3'
(R):5'- ACATCATTGCCTAGCTTGAGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation