Incidental Mutation 'IGL01574:Apoa4'
| ID |
91198 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apoa4
|
| Ensembl Gene |
ENSMUSG00000032080 |
| Gene Name |
apolipoprotein A-IV |
| Synonyms |
Apoa-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL01574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
46152142-46154756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46154283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 295
(Q295K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034585]
|
| AlphaFold |
P06728 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034585
AA Change: Q295K
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034585
Gene: ENSMUSG00000032080
AA Change: Q295K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Apolipoprotein
|
61 |
213 |
1.1e-33 |
PFAM |
|
Pfam:Apolipoprotein
|
182 |
338 |
9.1e-29 |
PFAM |
|
Pfam:Apolipoprotein
|
298 |
390 |
7.4e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215445
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene have lower HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd26 |
T |
G |
6: 118,516,659 (GRCm39) |
T502P |
probably damaging |
Het |
| Asxl3 |
T |
G |
18: 22,656,621 (GRCm39) |
C1544G |
probably benign |
Het |
| Ccl7 |
G |
A |
11: 81,937,451 (GRCm39) |
V62I |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,708,247 (GRCm39) |
T284K |
possibly damaging |
Het |
| Ces4a |
A |
T |
8: 105,871,859 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
G |
T |
8: 11,489,306 (GRCm39) |
G1147V |
probably damaging |
Het |
| Gtf3c4 |
T |
C |
2: 28,724,448 (GRCm39) |
D428G |
possibly damaging |
Het |
| Itgb2 |
G |
A |
10: 77,393,798 (GRCm39) |
V413I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,135,975 (GRCm39) |
E20A |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,705,900 (GRCm39) |
G373W |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,010,062 (GRCm39) |
I28F |
probably damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,572 (GRCm39) |
V818A |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,296 (GRCm39) |
Y53C |
probably damaging |
Het |
| Matcap2 |
T |
C |
9: 22,355,426 (GRCm39) |
V487A |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,316,488 (GRCm39) |
N772S |
probably benign |
Het |
| Mtmr4 |
C |
T |
11: 87,491,473 (GRCm39) |
T146I |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,017,546 (GRCm39) |
V1152I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,462 (GRCm39) |
D3978E |
unknown |
Het |
| Pkd1l3 |
T |
C |
8: 110,350,403 (GRCm39) |
L416P |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,544,992 (GRCm39) |
M161V |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,886 (GRCm39) |
|
probably null |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Prss27 |
A |
T |
17: 24,257,345 (GRCm39) |
|
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Tmem30c |
T |
A |
16: 57,097,105 (GRCm39) |
I152F |
possibly damaging |
Het |
| Usp2 |
G |
A |
9: 44,005,100 (GRCm39) |
R378H |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,572 (GRCm39) |
I609N |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,836,381 (GRCm39) |
E133D |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,261 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Apoa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02321:Apoa4
|
APN |
9 |
46,154,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0001:Apoa4
|
UTSW |
9 |
46,154,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0054:Apoa4
|
UTSW |
9 |
46,153,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0054:Apoa4
|
UTSW |
9 |
46,153,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0401:Apoa4
|
UTSW |
9 |
46,154,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Apoa4
|
UTSW |
9 |
46,153,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2027:Apoa4
|
UTSW |
9 |
46,154,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Apoa4
|
UTSW |
9 |
46,153,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4979:Apoa4
|
UTSW |
9 |
46,152,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Apoa4
|
UTSW |
9 |
46,154,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5780:Apoa4
|
UTSW |
9 |
46,153,890 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6769:Apoa4
|
UTSW |
9 |
46,154,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6771:Apoa4
|
UTSW |
9 |
46,154,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7009:Apoa4
|
UTSW |
9 |
46,154,178 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7384:Apoa4
|
UTSW |
9 |
46,152,772 (GRCm39) |
missense |
not run |
|
|
R7625:Apoa4
|
UTSW |
9 |
46,154,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8039:Apoa4
|
UTSW |
9 |
46,153,591 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8305:Apoa4
|
UTSW |
9 |
46,152,453 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8851:Apoa4
|
UTSW |
9 |
46,153,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9032:Apoa4
|
UTSW |
9 |
46,154,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Apoa4
|
UTSW |
9 |
46,152,453 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
Z1176:Apoa4
|
UTSW |
9 |
46,153,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2013-12-09 |
Incidental Mutation