Incidental Mutation 'R6398:Alpi'
ID |
516056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpi
|
Ensembl Gene |
ENSMUSG00000079440 |
Gene Name |
alkaline phosphatase, intestinal |
Synonyms |
2010001C14Rik |
MMRRC Submission |
044381-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6398 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
87025724-87029328 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 87027184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 365
(T365S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113270]
|
AlphaFold |
F8VPQ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113270
AA Change: T365S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108895 Gene: ENSMUSG00000079440 AA Change: T365S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago1 |
T |
A |
4: 126,342,601 (GRCm39) |
Q514L |
probably benign |
Het |
Cbx4 |
A |
T |
11: 118,971,908 (GRCm39) |
V489E |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,503,145 (GRCm39) |
D999G |
probably damaging |
Het |
Clspn |
A |
G |
4: 126,457,740 (GRCm39) |
E88G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ddx1 |
A |
T |
12: 13,295,721 (GRCm39) |
I33N |
probably damaging |
Het |
Diaph3 |
G |
A |
14: 87,103,922 (GRCm39) |
L821F |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,126,851 (GRCm39) |
M221I |
probably benign |
Het |
Gm15130 |
A |
T |
2: 110,965,787 (GRCm39) |
M154K |
unknown |
Het |
Gm3233 |
G |
T |
10: 77,595,249 (GRCm39) |
|
probably benign |
Het |
Heg1 |
A |
C |
16: 33,587,145 (GRCm39) |
I1327L |
probably damaging |
Het |
Ifnar1 |
G |
A |
16: 91,302,303 (GRCm39) |
|
probably null |
Het |
Itpr1 |
C |
T |
6: 108,482,864 (GRCm39) |
L2310F |
probably damaging |
Het |
Or5b98 |
T |
C |
19: 12,931,681 (GRCm39) |
S243P |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,476,487 (GRCm39) |
N541S |
possibly damaging |
Het |
Prelp |
A |
G |
1: 133,842,479 (GRCm39) |
L222P |
probably damaging |
Het |
Prl8a8 |
A |
G |
13: 27,692,412 (GRCm39) |
I193T |
probably damaging |
Het |
Prpf4b |
G |
T |
13: 35,084,354 (GRCm39) |
R914L |
probably damaging |
Het |
Ptbp2 |
G |
C |
3: 119,514,484 (GRCm39) |
Q448E |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
A |
T |
9: 94,552,280 (GRCm39) |
M56L |
probably benign |
Het |
Slfn4 |
A |
G |
11: 83,078,000 (GRCm39) |
I263V |
possibly damaging |
Het |
Taar2 |
A |
G |
10: 23,817,177 (GRCm39) |
N239S |
probably benign |
Het |
Trrap |
T |
A |
5: 144,727,680 (GRCm39) |
I467N |
possibly damaging |
Het |
Ttc28 |
T |
C |
5: 111,424,142 (GRCm39) |
Y1439H |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,438,666 (GRCm39) |
I3409M |
probably benign |
Het |
Zbbx |
G |
T |
3: 74,985,872 (GRCm39) |
N388K |
probably damaging |
Het |
Znhit2 |
A |
G |
19: 6,112,287 (GRCm39) |
N344S |
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 |
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'- TTGTGCCCTTTTGACAGATGAG -3'
(R):5'- GCAGGAATCCACAAGGCTTC -3'
Sequencing Primer
(F):5'- GCCCTTTTGACAGATGAGTAAACAG -3'
(R):5'- GGAATCCACAAGGCTTCTACCTC -3'
|
Posted On |
2018-05-04 |