Incidental Mutation 'IGL01598:Apol6'
| ID |
91746 |
| 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 # |
IGL01598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76929195-76941308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76934916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 62
(A62T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127957]
[ENSMUST00000129468]
[ENSMUST00000142405]
[ENSMUST00000149569]
[ENSMUST00000152949]
[ENSMUST00000229423]
[ENSMUST00000166179]
|
| AlphaFold |
B7ZC55 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127957
AA Change: A62T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576
AA Change: A62T
| 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 |
silent
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 |
probably damaging
Transcript: ENSMUST00000149569
AA Change: A62T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: A62T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
10 |
290 |
7e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152949
AA Change: A62T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576
AA Change: A62T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
10 |
263 |
2.7e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229423
|
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
| Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
| B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
| Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
| Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
| Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
| Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
| Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably damaging |
Het |
|
| Other mutations in Apol6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01788:Apol6
|
APN |
15 |
76,935,216 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
2013-12-09 |
Incidental Mutation