Incidental Mutation 'R1586:Alpi'
| ID |
177482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpi
|
| Ensembl Gene |
ENSMUSG00000079440 |
| Gene Name |
alkaline phosphatase, intestinal |
| Synonyms |
2010001C14Rik |
| MMRRC Submission |
039623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R1586 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87025724-87029328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87027923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 219
(I219T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113270]
|
| AlphaFold |
F8VPQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113270
AA Change: I219T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: I219T
| 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
|
| Meta Mutation Damage Score |
0.7248 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
93% (65/70) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,337,228 (GRCm39) |
A2361V |
probably damaging |
Het |
| Anapc10 |
T |
A |
8: 80,501,772 (GRCm39) |
M180K |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,713,708 (GRCm39) |
I431V |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,815,894 (GRCm39) |
D182E |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,678,808 (GRCm39) |
I945F |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,882,570 (GRCm39) |
S1019P |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,841,448 (GRCm39) |
I258F |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,985,386 (GRCm39) |
S277P |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,493,230 (GRCm39) |
V83E |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,997 (GRCm39) |
G1031S |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,516,477 (GRCm39) |
I373T |
possibly damaging |
Het |
| Cpvl |
T |
A |
6: 53,903,886 (GRCm39) |
D293V |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,317,147 (GRCm39) |
N122S |
probably benign |
Het |
| Dmap1 |
T |
C |
4: 117,533,319 (GRCm39) |
E245G |
probably damaging |
Het |
| Epha2 |
C |
T |
4: 141,045,916 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,347 (GRCm39) |
L303F |
probably damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,542,492 (GRCm39) |
D105G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,009 (GRCm39) |
L634Q |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,423 (GRCm39) |
F279L |
probably damaging |
Het |
| Guk1 |
A |
G |
11: 59,077,675 (GRCm39) |
S22P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,762,934 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,403,639 (GRCm39) |
S727T |
probably benign |
Het |
| Mki67 |
T |
A |
7: 135,315,701 (GRCm39) |
K54* |
probably null |
Het |
| Ms4a8a |
T |
C |
19: 11,053,696 (GRCm39) |
T137A |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,174,313 (GRCm39) |
Y557H |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,689,115 (GRCm39) |
K387N |
probably damaging |
Het |
| Oga |
T |
G |
19: 45,765,349 (GRCm39) |
T153P |
possibly damaging |
Het |
| Or5bb10 |
G |
T |
19: 12,206,241 (GRCm39) |
A223E |
probably damaging |
Het |
| Pde4c |
T |
A |
8: 71,199,508 (GRCm39) |
Y223N |
probably damaging |
Het |
| Psd |
T |
G |
19: 46,303,237 (GRCm39) |
E715A |
probably damaging |
Het |
| Rpl7 |
A |
T |
1: 16,172,807 (GRCm39) |
S171T |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,116,112 (GRCm39) |
*66W |
probably null |
Het |
| Scgb1b3 |
T |
A |
7: 31,075,388 (GRCm39) |
H79Q |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,199,469 (GRCm39) |
M255L |
probably benign |
Het |
| Slc35a4 |
T |
C |
18: 36,816,058 (GRCm39) |
V296A |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,722,596 (GRCm39) |
A9T |
possibly damaging |
Het |
| Snx11 |
C |
A |
11: 96,661,522 (GRCm39) |
W161L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,929,068 (GRCm39) |
K533E |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,512 (GRCm39) |
I282V |
probably benign |
Het |
| Speer4b |
A |
G |
5: 27,702,011 (GRCm39) |
S250P |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,041,061 (GRCm39) |
H1287L |
probably benign |
Het |
| Surf2 |
T |
C |
2: 26,809,767 (GRCm39) |
F239S |
probably damaging |
Het |
| Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,235,852 (GRCm39) |
|
probably null |
Het |
| Tbcd |
A |
G |
11: 121,387,886 (GRCm39) |
Q339R |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 45,994,445 (GRCm39) |
H281R |
probably benign |
Het |
| Tomm5 |
A |
G |
4: 45,107,915 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
T |
C |
17: 87,669,373 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
A |
T |
5: 110,937,382 (GRCm39) |
F638Y |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,409,195 (GRCm39) |
I612N |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,418,109 (GRCm39) |
D277E |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,477 (GRCm39) |
R583G |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,641 (GRCm39) |
I716F |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGTCAGTCTTAGCACATAGCCC -3'
(R):5'- TTCCAGGCATAAACAGCCTGAACTC -3'
Sequencing Primer
(F):5'- GTCTTAGCACATAGCCCTGAGAG -3'
(R):5'- CTGAACTCCAAGTCCCCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation