Incidental Mutation 'IGL01398:Apol11b'
| ID |
278336 |
| 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: 0.057)
|
| Stock # |
IGL01398
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,735,956 (GRCm39) |
Y326F |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,722,512 (GRCm39) |
T287A |
possibly damaging |
Het |
| Cyp26a1 |
C |
T |
19: 37,686,395 (GRCm39) |
T13I |
probably damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,395,056 (GRCm39) |
S188P |
probably damaging |
Het |
| Eml3 |
T |
G |
19: 8,911,598 (GRCm39) |
|
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,593,793 (GRCm39) |
I124F |
probably damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,837,790 (GRCm39) |
|
probably benign |
Het |
| Foxq1 |
G |
A |
13: 31,743,434 (GRCm39) |
D179N |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,868,599 (GRCm39) |
V1443M |
possibly damaging |
Het |
| Gpnmb |
T |
A |
6: 49,027,365 (GRCm39) |
M363K |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,535,762 (GRCm39) |
|
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,300,130 (GRCm39) |
L929P |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,019,964 (GRCm39) |
I1823F |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,979 (GRCm39) |
*351Q |
probably null |
Het |
| Or2ak6 |
A |
T |
11: 58,592,593 (GRCm39) |
H22L |
probably benign |
Het |
| Or4c107 |
C |
T |
2: 88,789,193 (GRCm39) |
P128S |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,032 (GRCm39) |
F257I |
probably damaging |
Het |
| Pgr15l |
C |
T |
X: 96,121,785 (GRCm39) |
T392I |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 141,923,332 (GRCm39) |
L318I |
probably benign |
Het |
| Sult1c2 |
C |
A |
17: 54,269,180 (GRCm39) |
V279L |
possibly damaging |
Het |
| Tek |
T |
C |
4: 94,738,014 (GRCm39) |
I688T |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,748 (GRCm39) |
D477E |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,789,997 (GRCm39) |
Y884N |
probably damaging |
Het |
| Upf3a |
C |
A |
8: 13,836,221 (GRCm39) |
H92Q |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,245,403 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
C |
17: 5,762,738 (GRCm39) |
I214T |
possibly damaging |
Het |
|
| Other mutations in Apol11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01295: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