Incidental Mutation 'IGL01788:Apol6'
| ID |
155136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apol6
|
| Ensembl Gene |
ENSMUSG00000033576 |
| Gene Name |
apolipoprotein L 6 |
| Synonyms |
2310076O14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76929195-76941308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76935216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 162
(V162I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127957]
[ENSMUST00000129468]
[ENSMUST00000142405]
[ENSMUST00000149569]
[ENSMUST00000152949]
[ENSMUST00000166179]
[ENSMUST00000229423]
|
| AlphaFold |
B7ZC55 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127957
AA Change: V162I
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576
AA Change: V162I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
15 |
290 |
4.1e-76 |
PFAM |
|
transmembrane domain
|
294 |
311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142405
|
| SMART Domains |
Protein: ENSMUSP00000117135
Gene: ENSMUSG00000033576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148197
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149569
AA Change: V162I
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: V162I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
10 |
290 |
7e-98 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152949
AA Change: V162I
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576
AA Change: V162I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
10 |
263 |
2.7e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166179
|
| SMART Domains |
Protein: ENSMUSP00000128399
Gene: ENSMUSG00000018893
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Globin
|
7 |
113 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229423
|
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
| Other mutations in Apol6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01598:Apol6
|
APN |
15 |
76,934,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Apol6
|
UTSW |
15 |
76,935,636 (GRCm39) |
frame shift |
probably null |
|
|
FR4449:Apol6
|
UTSW |
15 |
76,935,643 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Apol6
|
UTSW |
15 |
76,935,645 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Apol6
|
UTSW |
15 |
76,935,638 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Apol6
|
UTSW |
15 |
76,935,642 (GRCm39) |
frame shift |
probably null |
|
|
R0350:Apol6
|
UTSW |
15 |
76,935,147 (GRCm39) |
nonsense |
probably null |
|
|
R1167:Apol6
|
UTSW |
15 |
76,931,308 (GRCm39) |
nonsense |
probably null |
|
|
R1906:Apol6
|
UTSW |
15 |
76,935,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1996:Apol6
|
UTSW |
15 |
76,934,956 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2097:Apol6
|
UTSW |
15 |
76,931,333 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5611:Apol6
|
UTSW |
15 |
76,935,240 (GRCm39) |
splice site |
probably null |
|
|
R5980:Apol6
|
UTSW |
15 |
76,935,219 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6191:Apol6
|
UTSW |
15 |
76,940,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6300:Apol6
|
UTSW |
15 |
76,935,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6519:Apol6
|
UTSW |
15 |
76,935,476 (GRCm39) |
nonsense |
probably null |
|
|
R7569:Apol6
|
UTSW |
15 |
76,934,898 (GRCm39) |
unclassified |
probably benign |
|
|
R8072:Apol6
|
UTSW |
15 |
76,935,303 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9010:Apol6
|
UTSW |
15 |
76,935,697 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation