Incidental Mutation 'IGL02716:Akp3'
| ID |
304759 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akp3
|
| Ensembl Gene |
ENSMUSG00000036500 |
| Gene Name |
alkaline phosphatase 3, intestine, not Mn requiring |
| Synonyms |
IAP, Akp-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL02716
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87053201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 91
(D91A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044878]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044878
AA Change: D91A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: D91A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
alkPPc
|
53 |
487 |
1.92e-249 |
SMART |
|
low complexity region
|
503 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187662
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruption of this gene show no gross abnormalities in appearance, behavior or fertility. They do display accelerated lipid absorption on a high fat diet leading to elevated plasma triglycerides and increased weight gain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
C |
11: 54,218,102 (GRCm39) |
S212P |
probably benign |
Het |
| Ago2 |
C |
T |
15: 72,983,576 (GRCm39) |
R711Q |
possibly damaging |
Het |
| Arhgap12 |
T |
A |
18: 6,111,857 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,425 (GRCm39) |
Y2104C |
probably damaging |
Het |
| Baz2b |
G |
A |
2: 59,792,868 (GRCm39) |
S420L |
possibly damaging |
Het |
| Cenpo |
T |
C |
12: 4,265,390 (GRCm39) |
N210S |
possibly damaging |
Het |
| Chadl |
T |
C |
15: 81,580,116 (GRCm39) |
N40D |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,742 (GRCm39) |
E586G |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,504,422 (GRCm39) |
Q47L |
probably benign |
Het |
| Cyp2c40 |
C |
A |
19: 39,795,980 (GRCm39) |
D133Y |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,536,246 (GRCm39) |
M3679K |
probably damaging |
Het |
| Dym |
T |
C |
18: 75,419,754 (GRCm39) |
Y642H |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,034,627 (GRCm39) |
D65G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,633,672 (GRCm39) |
F445I |
probably damaging |
Het |
| Epdr1 |
C |
T |
13: 19,778,740 (GRCm39) |
V119M |
probably benign |
Het |
| Epha4 |
G |
T |
1: 77,357,602 (GRCm39) |
R799S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,199,277 (GRCm39) |
V778E |
probably damaging |
Het |
| F10 |
A |
T |
8: 13,098,177 (GRCm39) |
K127* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,800,859 (GRCm39) |
E1302K |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,635 (GRCm39) |
F1382L |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,645,642 (GRCm39) |
I318V |
possibly damaging |
Het |
| Fscn2 |
A |
T |
11: 120,257,550 (GRCm39) |
T304S |
probably benign |
Het |
| Gab1 |
A |
T |
8: 81,496,323 (GRCm39) |
L659Q |
probably damaging |
Het |
| Gm4845 |
A |
C |
1: 141,184,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm572 |
A |
G |
4: 148,739,327 (GRCm39) |
M52V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,796,520 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,231,496 (GRCm39) |
T9A |
probably damaging |
Het |
| Krt87 |
A |
C |
15: 101,332,485 (GRCm39) |
F243V |
possibly damaging |
Het |
| Lyset |
A |
G |
12: 102,711,088 (GRCm39) |
T104A |
probably benign |
Het |
| Mast1 |
G |
T |
8: 85,662,352 (GRCm39) |
P52Q |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,047,277 (GRCm39) |
Q211L |
probably benign |
Het |
| Mtrex |
T |
G |
13: 113,019,680 (GRCm39) |
D810A |
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,173,120 (GRCm39) |
P968T |
probably benign |
Het |
| Mylk2 |
T |
C |
2: 152,764,073 (GRCm39) |
*614R |
probably null |
Het |
| Myo15b |
A |
T |
11: 115,774,535 (GRCm39) |
E2049V |
probably benign |
Het |
| Myo6 |
A |
T |
9: 80,176,976 (GRCm39) |
H581L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,847,982 (GRCm39) |
S241T |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,355 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,126 (GRCm39) |
I50F |
probably benign |
Het |
| Or4x11 |
G |
T |
2: 89,868,138 (GRCm39) |
V292L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,621,953 (GRCm39) |
S676P |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,066,541 (GRCm39) |
E1196K |
possibly damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,248,635 (GRCm39) |
P548S |
unknown |
Het |
| Slc2a7 |
A |
G |
4: 150,244,467 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,547,135 (GRCm39) |
S261P |
possibly damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,896 (GRCm39) |
Y42F |
possibly damaging |
Het |
| Srrm3 |
A |
G |
5: 135,883,287 (GRCm39) |
|
probably null |
Het |
| Stambp |
G |
A |
6: 83,533,372 (GRCm39) |
T297I |
probably damaging |
Het |
| Sypl1 |
T |
A |
12: 33,017,668 (GRCm39) |
Y129N |
probably damaging |
Het |
| Syt14 |
G |
A |
1: 192,662,843 (GRCm39) |
P368S |
possibly damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,227 (GRCm39) |
D222G |
probably damaging |
Het |
| Tead2 |
C |
A |
7: 44,881,720 (GRCm39) |
Y79* |
probably null |
Het |
| Uso1 |
T |
C |
5: 92,321,794 (GRCm39) |
V229A |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,124 (GRCm39) |
S97P |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,678 (GRCm39) |
V88D |
probably benign |
Het |
| Vps29 |
A |
G |
5: 122,500,129 (GRCm39) |
T85A |
probably benign |
Het |
| Wdr90 |
T |
A |
17: 26,076,194 (GRCm39) |
S500C |
probably damaging |
Het |
| Zfp958 |
G |
A |
8: 4,675,967 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Akp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Akp3
|
APN |
1 |
87,054,858 (GRCm39) |
splice site |
probably benign |
|
|
IGL02146:Akp3
|
APN |
1 |
87,054,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02216:Akp3
|
APN |
1 |
87,055,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Akp3
|
APN |
1 |
87,052,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Akp3
|
APN |
1 |
87,054,091 (GRCm39) |
nonsense |
probably null |
|
|
IGL03099:Akp3
|
APN |
1 |
87,055,328 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0458:Akp3
|
UTSW |
1 |
87,054,259 (GRCm39) |
nonsense |
probably null |
|
|
R0755:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R0783:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R0784:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R1080:Akp3
|
UTSW |
1 |
87,054,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1120:Akp3
|
UTSW |
1 |
87,053,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1128:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R1130:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R1175:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R1200:Akp3
|
UTSW |
1 |
87,052,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Akp3
|
UTSW |
1 |
87,055,593 (GRCm39) |
missense |
unknown |
|
|
R1864:Akp3
|
UTSW |
1 |
87,055,489 (GRCm39) |
small deletion |
probably benign |
|
|
R2111:Akp3
|
UTSW |
1 |
87,054,607 (GRCm39) |
splice site |
probably null |
|
|
R4657:Akp3
|
UTSW |
1 |
87,053,556 (GRCm39) |
intron |
probably benign |
|
|
R5278:Akp3
|
UTSW |
1 |
87,052,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5563:Akp3
|
UTSW |
1 |
87,053,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Akp3
|
UTSW |
1 |
87,055,485 (GRCm39) |
missense |
unknown |
|
|
R5768:Akp3
|
UTSW |
1 |
87,054,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5809:Akp3
|
UTSW |
1 |
87,054,270 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5956:Akp3
|
UTSW |
1 |
87,054,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Akp3
|
UTSW |
1 |
87,055,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Akp3
|
UTSW |
1 |
87,053,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Akp3
|
UTSW |
1 |
87,054,500 (GRCm39) |
missense |
probably benign |
|
|
R7154:Akp3
|
UTSW |
1 |
87,052,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Akp3
|
UTSW |
1 |
87,055,471 (GRCm39) |
missense |
unknown |
|
|
R7486:Akp3
|
UTSW |
1 |
87,053,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Akp3
|
UTSW |
1 |
87,055,489 (GRCm39) |
small deletion |
probably benign |
|
|
R8267:Akp3
|
UTSW |
1 |
87,055,461 (GRCm39) |
missense |
unknown |
|
|
R8708:Akp3
|
UTSW |
1 |
87,054,091 (GRCm39) |
nonsense |
probably null |
|
|
R9026:Akp3
|
UTSW |
1 |
87,054,786 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9433:Akp3
|
UTSW |
1 |
87,053,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Akp3
|
UTSW |
1 |
87,054,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Akp3
|
UTSW |
1 |
87,053,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Akp3
|
UTSW |
1 |
87,054,518 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Akp3
|
UTSW |
1 |
87,054,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation