Incidental Mutation 'IGL01294:Apol11b'
| ID |
278252 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apol11b
|
| Ensembl Gene |
ENSMUSG00000091694 |
| Gene Name |
apolipoprotein L 11b |
| Synonyms |
A330102K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77518151-77527486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77522219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 26
(T26M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166623]
[ENSMUST00000180949]
[ENSMUST00000181154]
[ENSMUST00000181467]
|
| AlphaFold |
E9PUZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166623
AA Change: T26M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129476
Gene: ENSMUSG00000091694
AA Change: T26M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
30 |
311 |
8.6e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180949
AA Change: T26M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137890
Gene: ENSMUSG00000091694
AA Change: T26M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
29 |
323 |
5.1e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181154
AA Change: T26M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137798
Gene: ENSMUSG00000091694
AA Change: T26M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
29 |
76 |
5.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181467
|
| SMART Domains |
Protein: ENSMUSP00000138009
Gene: ENSMUSG00000091694
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
1 |
144 |
2.3e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
T |
7: 127,836,291 (GRCm39) |
S101T |
probably benign |
Het |
| Arglu1 |
G |
T |
8: 8,733,739 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,391,280 (GRCm39) |
Y436D |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cpne8 |
G |
A |
15: 90,385,648 (GRCm39) |
S460L |
probably damaging |
Het |
| Crat |
G |
A |
2: 30,295,199 (GRCm39) |
A436V |
probably damaging |
Het |
| Dmd |
T |
C |
X: 83,475,604 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
G |
T |
17: 71,581,589 (GRCm39) |
A379E |
probably benign |
Het |
| Ercc2 |
A |
G |
7: 19,124,342 (GRCm39) |
I445V |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,504,854 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
T |
16: 57,392,711 (GRCm39) |
K1100* |
probably null |
Het |
| Gm4353 |
T |
A |
7: 115,683,077 (GRCm39) |
D168V |
possibly damaging |
Het |
| Hsf4 |
G |
T |
8: 106,002,289 (GRCm39) |
*417L |
probably null |
Het |
| Kmt2a |
A |
G |
9: 44,731,594 (GRCm39) |
|
probably benign |
Het |
| Macroh2a1 |
A |
T |
13: 56,222,113 (GRCm39) |
V346E |
probably damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,421,177 (GRCm39) |
S261P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,742,211 (GRCm39) |
S621P |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,232,926 (GRCm39) |
Y934C |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,353,588 (GRCm39) |
S1224P |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 73,438,373 (GRCm39) |
N1474Y |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,970 (GRCm39) |
L261S |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,541,461 (GRCm39) |
V192A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,090,657 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sfmbt2 |
T |
A |
2: 10,595,232 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,083,653 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,987,506 (GRCm39) |
M734V |
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,413,019 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,067,114 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
A |
5: 86,297,907 (GRCm39) |
I256L |
possibly damaging |
Het |
| Wnt3 |
A |
T |
11: 103,699,140 (GRCm39) |
H82L |
possibly damaging |
Het |
|
| Other mutations in Apol11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01398:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01399:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01400:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01402:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1815:Apol11b
|
UTSW |
15 |
77,519,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Apol11b
|
UTSW |
15 |
77,522,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3917:Apol11b
|
UTSW |
15 |
77,519,504 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4424:Apol11b
|
UTSW |
15 |
77,522,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4766:Apol11b
|
UTSW |
15 |
77,519,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4804:Apol11b
|
UTSW |
15 |
77,519,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Apol11b
|
UTSW |
15 |
77,519,793 (GRCm39) |
nonsense |
probably null |
|
|
R5600:Apol11b
|
UTSW |
15 |
77,519,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5866:Apol11b
|
UTSW |
15 |
77,524,747 (GRCm39) |
missense |
probably null |
0.97 |
|
R5997:Apol11b
|
UTSW |
15 |
77,519,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6213:Apol11b
|
UTSW |
15 |
77,522,200 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6249:Apol11b
|
UTSW |
15 |
77,519,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6364:Apol11b
|
UTSW |
15 |
77,522,258 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6984:Apol11b
|
UTSW |
15 |
77,519,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8064:Apol11b
|
UTSW |
15 |
77,519,417 (GRCm39) |
missense |
not run |
|
|
R9081:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9082:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9105:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9569:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9570:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9571:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9573:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9790:Apol11b
|
UTSW |
15 |
77,519,475 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9791:Apol11b
|
UTSW |
15 |
77,519,475 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1088:Apol11b
|
UTSW |
15 |
77,522,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Apol11b
|
UTSW |
15 |
77,522,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1177:Apol11b
|
UTSW |
15 |
77,522,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2015-04-16 |
Incidental Mutation