Incidental Mutation 'IGL02216:Akp3'
| ID |
284895 |
| 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 # |
IGL02216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87055372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 473
(Q473L)
|
| 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: Q473L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: Q473L
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
T |
C |
11: 70,507,005 (GRCm39) |
F48L |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,571 (GRCm39) |
N381S |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,727,438 (GRCm39) |
|
probably benign |
Het |
| Ap5s1 |
T |
A |
2: 131,054,887 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,616 (GRCm39) |
L1438Q |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,539 (GRCm39) |
P233L |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cc2d1a |
C |
A |
8: 84,865,942 (GRCm39) |
E393* |
probably null |
Het |
| Cd209a |
G |
T |
8: 3,795,576 (GRCm39) |
T165N |
probably damaging |
Het |
| Chid1 |
T |
C |
7: 141,076,506 (GRCm39) |
|
probably benign |
Het |
| Cln3 |
A |
T |
7: 126,174,514 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,059,944 (GRCm39) |
R203S |
probably damaging |
Het |
| Dele1 |
A |
T |
18: 38,385,913 (GRCm39) |
I102F |
probably damaging |
Het |
| Dnttip2 |
G |
T |
3: 122,069,910 (GRCm39) |
W375L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,629,436 (GRCm39) |
F4280S |
probably damaging |
Het |
| Ephb4 |
A |
G |
5: 137,370,332 (GRCm39) |
D844G |
possibly damaging |
Het |
| Fhl2 |
T |
A |
1: 43,170,879 (GRCm39) |
E145V |
probably null |
Het |
| Gne |
T |
C |
4: 44,044,761 (GRCm39) |
K458E |
probably benign |
Het |
| Grid2 |
G |
T |
6: 64,322,650 (GRCm39) |
R550L |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,360,658 (GRCm39) |
T731S |
probably benign |
Het |
| Kng1 |
T |
A |
16: 22,877,283 (GRCm39) |
D30E |
probably damaging |
Het |
| Kyat1 |
A |
G |
2: 30,077,264 (GRCm39) |
V158A |
probably benign |
Het |
| Mcm8 |
G |
T |
2: 132,681,449 (GRCm39) |
V642F |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,739,092 (GRCm39) |
H3638Y |
probably benign |
Het |
| Neb |
T |
G |
2: 52,116,502 (GRCm39) |
T4158P |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,824,336 (GRCm39) |
I697M |
probably damaging |
Het |
| Nfkb1 |
A |
T |
3: 135,300,724 (GRCm39) |
V614D |
probably damaging |
Het |
| Or7e169 |
G |
A |
9: 19,757,861 (GRCm39) |
S18L |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,950,892 (GRCm39) |
S2555P |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,784,897 (GRCm39) |
R1962S |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,929,918 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pramel12 |
T |
A |
4: 143,144,298 (GRCm39) |
|
probably null |
Het |
| Prl3a1 |
A |
G |
13: 27,454,127 (GRCm39) |
D35G |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,473,726 (GRCm39) |
V472D |
possibly damaging |
Het |
| Rbpj-ps3 |
G |
A |
6: 46,506,641 (GRCm39) |
|
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,340,804 (GRCm39) |
V472M |
probably damaging |
Het |
| Rps18 |
A |
G |
17: 34,171,015 (GRCm39) |
|
probably benign |
Het |
| Rptn |
T |
C |
3: 93,303,080 (GRCm39) |
S138P |
possibly damaging |
Het |
| Sbpl |
A |
C |
17: 24,172,690 (GRCm39) |
N76K |
probably benign |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,364 (GRCm39) |
M241L |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,145,433 (GRCm39) |
*198W |
probably null |
Het |
| Smc3 |
C |
T |
19: 53,610,275 (GRCm39) |
R221C |
probably damaging |
Het |
| Snai1 |
A |
G |
2: 167,380,768 (GRCm39) |
E87G |
probably benign |
Het |
| Snx22 |
C |
A |
9: 65,976,470 (GRCm39) |
A49S |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,268 (GRCm39) |
R33* |
probably null |
Het |
| Try4 |
A |
G |
6: 41,281,965 (GRCm39) |
I184V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,896 (GRCm39) |
K20355* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,622,069 (GRCm39) |
V15491A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,237 (GRCm39) |
T293A |
probably benign |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,915 (GRCm39) |
T106A |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,661,817 (GRCm39) |
V666E |
probably damaging |
Het |
| Vsx1 |
T |
C |
2: 150,526,495 (GRCm39) |
N221S |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,499,905 (GRCm39) |
E45G |
probably damaging |
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 |
|
IGL02677:Akp3
|
APN |
1 |
87,052,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Akp3
|
APN |
1 |
87,053,201 (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