Incidental Mutation 'R0783:Akp3'
| ID |
76700 |
| 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 |
038963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R0783 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
| Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
| Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
| Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
| Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,313,596 (GRCm39) |
|
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
| Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,987,235 (GRCm39) |
C95S |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
| Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
| Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,622,252 (GRCm39) |
W1074R |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
| Tmprss7 |
G |
A |
16: 45,487,969 (GRCm39) |
Q487* |
probably null |
Het |
| Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,570,458 (GRCm39) |
S1163T |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
| Zfp128 |
C |
T |
7: 12,624,199 (GRCm39) |
P189L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGAGCAGAACTACATCGC -3'
(R):5'- CTGCAATGCAAGGTAGGGCTAGAC -3'
Sequencing Primer
(F):5'- GAACTACATCGCGCACGTC -3'
(R):5'- CTAGACATGAGGCCAGTAGC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation