Incidental Mutation 'R1080:Akp3'
| ID |
85812 |
| 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 |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87054723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 353
(F353I)
|
| 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: F353I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: F353I
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- TTCAACGAGATCCCCTGATGGACC -3'
(R):5'- TAATTGACAGCCTGCCACTGTTCCC -3'
Sequencing Primer
(F):5'- TGGACCCATCTCTGAAGGATATG -3'
(R):5'- GTTCCCGAACCTACCGAAGATG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation