Incidental Mutation 'R6945:Akp3'
| ID |
540820 |
| 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 |
045059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R6945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87052695-87055634 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87053353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 102
(Y102C)
|
| 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: Y102C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: Y102C
| 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 |
|
| Meta Mutation Damage Score |
0.9615 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
A |
16: 20,218,759 (GRCm39) |
T208S |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,926,380 (GRCm39) |
E112G |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,421,873 (GRCm39) |
N881S |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,717,844 (GRCm39) |
E314G |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,727,399 (GRCm39) |
E443G |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,526 (GRCm39) |
N618S |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,815,078 (GRCm39) |
V296A |
probably benign |
Het |
| Cacna2d3 |
G |
A |
14: 28,691,275 (GRCm39) |
|
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,364,966 (GRCm39) |
N99S |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,065,348 (GRCm39) |
Y283C |
probably damaging |
Het |
| Celf4 |
T |
A |
18: 25,629,293 (GRCm39) |
Q411L |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,647,755 (GRCm39) |
H108Q |
probably damaging |
Het |
| Col23a1 |
A |
G |
11: 51,452,720 (GRCm39) |
E225G |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,024,045 (GRCm39) |
E1902G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,229,571 (GRCm39) |
D2063G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,823,184 (GRCm39) |
I6306L |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,838 (GRCm39) |
S667P |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,139 (GRCm39) |
S92R |
probably benign |
Het |
| Gm11563 |
C |
G |
11: 99,549,298 (GRCm39) |
C152S |
unknown |
Het |
| Gm3486 |
A |
G |
14: 41,206,518 (GRCm39) |
V185A |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Hyal1 |
C |
A |
9: 107,456,369 (GRCm39) |
A102E |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,421,785 (GRCm39) |
C806R |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,933 (GRCm39) |
V165A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,120,861 (GRCm39) |
T2666A |
|
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,146,239 (GRCm39) |
Y351C |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,464,152 (GRCm39) |
F551S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,788,386 (GRCm39) |
T333A |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,799,947 (GRCm39) |
N387I |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,874,204 (GRCm39) |
D543G |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,970,405 (GRCm39) |
I273T |
possibly damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,428 (GRCm39) |
S217P |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,942,859 (GRCm39) |
V427A |
probably benign |
Het |
| Pfas |
G |
A |
11: 68,891,356 (GRCm39) |
A247V |
probably benign |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,490 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Psat1 |
T |
A |
19: 15,894,545 (GRCm39) |
T115S |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,787,437 (GRCm39) |
D1077E |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,509,752 (GRCm39) |
S442P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,822,976 (GRCm39) |
M280T |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,331,256 (GRCm39) |
E394D |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,922,460 (GRCm39) |
V271A |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,315 (GRCm39) |
N919K |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,896,449 (GRCm39) |
S245P |
possibly damaging |
Het |
| Slc22a15 |
T |
C |
3: 101,831,430 (GRCm39) |
E2G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,036,891 (GRCm39) |
D1134G |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,815 (GRCm39) |
V378A |
probably damaging |
Het |
| Tchp |
A |
G |
5: 114,847,411 (GRCm39) |
K77E |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,032,956 (GRCm39) |
N123S |
probably benign |
Het |
| Trio |
C |
T |
15: 27,824,176 (GRCm39) |
R1443Q |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,727,665 (GRCm39) |
Y462F |
possibly damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,832 (GRCm39) |
T148A |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,824,711 (GRCm39) |
N246K |
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 |
|
R5999:Akp3
|
UTSW |
1 |
87,055,263 (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'- GTCATCTAGGACCTGAGACACC -3'
(R):5'- AAGGTCAGGGTGAGACATCC -3'
Sequencing Primer
(F):5'- TGAGACACCCCTAGCCATGG -3'
(R):5'- GACATCCAGTCCCCTAGGCTTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation