Incidental Mutation 'R0677:Apol8'
| ID |
61689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol8
|
| Ensembl Gene |
ENSMUSG00000056656 |
| Gene Name |
apolipoprotein L 8 |
| Synonyms |
9830006J20Rik, Apol2 |
| MMRRC Submission |
038862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0677 (G1)
|
| Quality Score |
99 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77631998-77641203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77634051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 175
(I175S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070911]
[ENSMUST00000089450]
[ENSMUST00000229332]
[ENSMUST00000229445]
|
| AlphaFold |
A2VDH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070911
AA Change: I175S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656
AA Change: I175S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
26 |
333 |
2.5e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089450
AA Change: I175S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086873
Gene: ENSMUSG00000056656
AA Change: I175S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
1 |
307 |
9.4e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230332
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
| BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
| Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
| Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
| Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
| Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
| Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
| Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
| Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
probably damaging |
Het |
|
| Other mutations in Apol8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Apol8
|
APN |
15 |
77,634,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00569:Apol8
|
APN |
15 |
77,634,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01955:Apol8
|
APN |
15 |
77,633,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0964:Apol8
|
UTSW |
15 |
77,633,811 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1720:Apol8
|
UTSW |
15 |
77,633,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3508:Apol8
|
UTSW |
15 |
77,633,643 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6465:Apol8
|
UTSW |
15 |
77,634,148 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6771:Apol8
|
UTSW |
15 |
77,637,258 (GRCm39) |
splice site |
probably null |
|
|
R7819:Apol8
|
UTSW |
15 |
77,633,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Apol8
|
UTSW |
15 |
77,634,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8511:Apol8
|
UTSW |
15 |
77,634,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9012:Apol8
|
UTSW |
15 |
77,634,324 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9644:Apol8
|
UTSW |
15 |
77,633,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATAGATGCTCTGCTCAATGCACC -3'
(R):5'- AGCAAACCTGGCTGTGGAAGAC -3'
Sequencing Primer
(F):5'- TGCTCAATGCACCGTAGGAC -3'
(R):5'- CGTTTCCCCAGGTGAAACTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation