Incidental Mutation 'IGL00569:Apol8'
ID |
332646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Apol8
|
Ensembl Gene |
ENSMUSG00000056656 |
Gene Name |
apolipoprotein L 8 |
Synonyms |
9830006J20Rik, Apol2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00569
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
77631998-77641203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77634255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 107
(R107H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070911]
[ENSMUST00000089450]
[ENSMUST00000229332]
[ENSMUST00000229445]
|
AlphaFold |
A2VDH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070911
AA Change: R107H
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000064237 Gene: ENSMUSG00000056656 AA Change: R107H
Domain | Start | End | E-Value | Type |
Pfam:ApoL
|
26 |
333 |
2.5e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089450
AA Change: R107H
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000086873 Gene: ENSMUSG00000056656 AA Change: R107H
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
G |
11: 110,077,875 (GRCm39) |
N1311H |
possibly damaging |
Het |
Adrm1b |
T |
C |
3: 92,335,707 (GRCm39) |
T332A |
probably benign |
Het |
Cacna1a |
T |
A |
8: 85,189,343 (GRCm39) |
I98N |
probably damaging |
Het |
Clps |
T |
A |
17: 28,779,636 (GRCm39) |
|
probably benign |
Het |
Dcc |
T |
A |
18: 71,517,296 (GRCm39) |
|
probably null |
Het |
Dock10 |
A |
G |
1: 80,562,729 (GRCm39) |
F544L |
probably damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,176,912 (GRCm39) |
S218T |
probably benign |
Het |
Faf1 |
T |
C |
4: 109,819,077 (GRCm39) |
*650Q |
probably null |
Het |
Fxn |
A |
T |
19: 24,244,714 (GRCm39) |
I142N |
probably damaging |
Het |
Gm10610 |
A |
T |
7: 83,198,778 (GRCm39) |
|
noncoding transcript |
Het |
Hspa1l |
C |
T |
17: 35,196,441 (GRCm39) |
T160I |
probably damaging |
Het |
Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
Khsrp |
T |
C |
17: 57,330,092 (GRCm39) |
T646A |
possibly damaging |
Het |
Lilra6 |
A |
G |
7: 3,917,588 (GRCm39) |
S136P |
probably damaging |
Het |
Lmo7 |
T |
G |
14: 102,124,487 (GRCm39) |
N315K |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,810,790 (GRCm39) |
T147A |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,938,585 (GRCm39) |
E1134G |
possibly damaging |
Het |
Nek3 |
A |
G |
8: 22,648,722 (GRCm39) |
L103P |
probably damaging |
Het |
Nudt17 |
G |
T |
3: 96,614,343 (GRCm39) |
P222Q |
probably damaging |
Het |
Pla2r1 |
G |
T |
2: 60,250,769 (GRCm39) |
T1386K |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,738,872 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
A |
C |
1: 152,447,368 (GRCm39) |
S134A |
probably benign |
Het |
Rnls |
T |
A |
19: 33,145,888 (GRCm39) |
E195V |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,597,232 (GRCm39) |
N536S |
probably benign |
Het |
Serinc3 |
G |
T |
2: 163,469,921 (GRCm39) |
P309Q |
probably damaging |
Het |
Smc5 |
G |
A |
19: 23,213,329 (GRCm39) |
R528C |
probably damaging |
Het |
Stxbp3-ps |
A |
T |
19: 9,535,186 (GRCm39) |
|
noncoding transcript |
Het |
Tmem67 |
T |
A |
4: 12,061,826 (GRCm39) |
I549L |
probably damaging |
Het |
Trank1 |
C |
A |
9: 111,174,579 (GRCm39) |
H269N |
possibly damaging |
Het |
Wdr87-ps |
A |
T |
7: 29,233,565 (GRCm39) |
|
noncoding transcript |
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 |
IGL01955:Apol8
|
APN |
15 |
77,633,899 (GRCm39) |
missense |
probably benign |
0.01 |
R0677:Apol8
|
UTSW |
15 |
77,634,051 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-08-05 |