Incidental Mutation 'R5999:Akp3'
| ID |
480699 |
| 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 |
044178-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R5999 (G1)
|
| Quality Score |
174.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87055263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 437
(Y437N)
|
| 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: Y437N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: Y437N
| 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 |
0.4459 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
| Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
| Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
| Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
| Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
| Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
| Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
| Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
| Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
| Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
| Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
| Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
| Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
| Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
| Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
| Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
| Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
| Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
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 |
|
|
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 |
|
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'- GCAGGAAAACGTGTCCCTCTTC -3'
(R):5'- GTCTGGCTTTCATCTGCAGG -3'
Sequencing Primer
(F):5'- TCAATGCTCTGGACGGCAAG -3'
(R):5'- CTTTCATCTGCAGGGGGTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation