Incidental Mutation 'R2332:Apoa4'
| ID |
246474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apoa4
|
| Ensembl Gene |
ENSMUSG00000032080 |
| Gene Name |
apolipoprotein A-IV |
| Synonyms |
Apoa-4 |
| MMRRC Submission |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
46152142-46154756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46153653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 85
(V85I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034585]
|
| AlphaFold |
P06728 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034585
AA Change: V85I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000034585
Gene: ENSMUSG00000032080
AA Change: V85I
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
probably damaging |
Het |
|
| Other mutations in Apoa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Apoa4
|
APN |
9 |
46,154,283 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACACACTCCTGACCTAAGC -3'
(R):5'- CTGCATGCGCTGGATGTATG -3'
Sequencing Primer
(F):5'- CCTAAGCAGGTGTATAGAGCTG -3'
(R):5'- GATCTGATCTTGCAGGTCCACG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation