Incidental Mutation 'R1130:Akp3'
| ID |
98012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akp3
|
| Ensembl Gene |
ENSMUSG00000036500 |
| Gene Name |
alkaline phosphatase 3, intestine, not Mn requiring |
| Synonyms |
IAP, Akp-3 |
| MMRRC Submission |
039203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R1130 (G1)
|
| Quality Score |
81 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87055593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 547
(G547R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044878]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044878
AA Change: G547R
|
| SMART Domains |
Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: G547R
| 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
|
| Meta Mutation Damage Score |
0.0693 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,943,561 (GRCm39) |
H58Y |
probably benign |
Het |
| Armc2 |
T |
C |
10: 41,887,830 (GRCm39) |
D51G |
possibly damaging |
Het |
| Aspm |
A |
T |
1: 139,405,572 (GRCm39) |
K1486N |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,199,178 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cldn20 |
T |
C |
17: 3,583,243 (GRCm39) |
Y139H |
probably damaging |
Het |
| Defb19 |
C |
A |
2: 152,418,109 (GRCm39) |
E76* |
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,884,797 (GRCm39) |
D423E |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,834,865 (GRCm39) |
|
probably null |
Het |
| Gaa |
C |
T |
11: 119,165,509 (GRCm39) |
T333M |
probably damaging |
Het |
| Gm9945 |
T |
A |
11: 53,371,345 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
G |
A |
15: 74,693,195 (GRCm39) |
C66Y |
probably damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,536,823 (GRCm39) |
R254* |
probably null |
Het |
| Megf10 |
T |
C |
18: 57,395,078 (GRCm39) |
V480A |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,091,929 (GRCm39) |
M1152K |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,283,765 (GRCm39) |
V803A |
probably damaging |
Het |
| Rxylt1 |
T |
C |
10: 121,931,847 (GRCm39) |
I109V |
possibly damaging |
Het |
| Skint7 |
T |
C |
4: 111,841,355 (GRCm39) |
I265T |
probably benign |
Het |
| Srsf2 |
A |
G |
11: 116,743,009 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,371 (GRCm39) |
N108D |
possibly 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 |
|
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGAGCAGAACTACATCGC -3'
(R):5'- CTGCAATGCAAGGTAGGGCTAGAC -3'
Sequencing Primer
(F):5'- GAACTACATCGCGCACGTC -3'
(R):5'- CTAGACATGAGGCCAGTAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation