Incidental Mutation 'IGL01702:Apol7a'
ID |
104500 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Apol7a
|
Ensembl Gene |
ENSMUSG00000010601 |
Gene Name |
apolipoprotein L 7a |
Synonyms |
9130022K13Rik, Apol3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01702
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
77272419-77283310 bp(-) (GRCm39) |
Type of Mutation |
splice site (3729 bp from exon) |
DNA Base Change (assembly) |
T to C
at 77273886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010745]
[ENSMUST00000175789]
[ENSMUST00000175919]
[ENSMUST00000176074]
|
AlphaFold |
B2RT54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010745
AA Change: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000010745 Gene: ENSMUSG00000010601 AA Change: D192G
Domain | Start | End | E-Value | Type |
Pfam:ApoL
|
20 |
82 |
2.4e-13 |
PFAM |
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
Pfam:ApoL
|
123 |
416 |
1.8e-122 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175789
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175919
AA Change: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135864 Gene: ENSMUSG00000010601 AA Change: D192G
Domain | Start | End | E-Value | Type |
Pfam:ApoL
|
20 |
416 |
3.1e-138 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176074
AA Change: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134864 Gene: ENSMUSG00000010601 AA Change: D192G
Domain | Start | End | E-Value | Type |
Pfam:ApoL
|
20 |
416 |
3.1e-138 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177135
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb2 |
C |
T |
12: 103,302,164 (GRCm39) |
G128E |
possibly damaging |
Het |
Atp11c |
A |
T |
X: 59,315,263 (GRCm39) |
S683T |
probably damaging |
Het |
Brinp3 |
A |
G |
1: 146,627,735 (GRCm39) |
|
probably benign |
Het |
Cpeb3 |
A |
T |
19: 37,103,782 (GRCm39) |
M369K |
possibly damaging |
Het |
Exoc5 |
A |
T |
14: 49,253,072 (GRCm39) |
C580* |
probably null |
Het |
Gm9956 |
A |
G |
10: 56,621,335 (GRCm39) |
|
|
Het |
Gzmk |
C |
T |
13: 113,317,084 (GRCm39) |
V32I |
probably damaging |
Het |
Hsf4 |
T |
C |
8: 105,998,221 (GRCm39) |
I129T |
probably damaging |
Het |
Igkv1-115 |
T |
A |
6: 68,138,516 (GRCm39) |
W40R |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,500,312 (GRCm39) |
M314K |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,389,099 (GRCm39) |
T78A |
probably benign |
Het |
Med28 |
T |
C |
5: 45,682,633 (GRCm39) |
S100P |
probably benign |
Het |
Prx |
G |
A |
7: 27,219,212 (GRCm39) |
V1238I |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,353,727 (GRCm39) |
N2263S |
probably benign |
Het |
Rab12 |
A |
G |
17: 66,826,384 (GRCm39) |
F61S |
probably damaging |
Het |
Serpinb9d |
T |
C |
13: 33,387,006 (GRCm39) |
F358S |
probably damaging |
Het |
Slc25a3 |
A |
T |
10: 90,953,987 (GRCm39) |
Y242N |
probably damaging |
Het |
Smtnl1 |
T |
C |
2: 84,649,034 (GRCm39) |
I73M |
possibly damaging |
Het |
Tnp1 |
C |
A |
1: 73,054,877 (GRCm39) |
|
probably benign |
Het |
Trim5 |
T |
C |
7: 103,928,638 (GRCm39) |
E101G |
probably damaging |
Het |
|
Other mutations in Apol7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01015:Apol7a
|
APN |
15 |
77,274,055 (GRCm39) |
unclassified |
probably benign |
|
IGL01408:Apol7a
|
APN |
15 |
77,273,530 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02215:Apol7a
|
APN |
15 |
77,277,690 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02931:Apol7a
|
APN |
15 |
77,277,650 (GRCm39) |
nonsense |
probably null |
|
R0610:Apol7a
|
UTSW |
15 |
77,273,454 (GRCm39) |
missense |
probably benign |
0.06 |
R0652:Apol7a
|
UTSW |
15 |
77,274,055 (GRCm39) |
unclassified |
probably benign |
|
R1616:Apol7a
|
UTSW |
15 |
77,273,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Apol7a
|
UTSW |
15 |
77,277,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3034:Apol7a
|
UTSW |
15 |
77,273,923 (GRCm39) |
missense |
probably benign |
0.03 |
R4566:Apol7a
|
UTSW |
15 |
77,273,951 (GRCm39) |
nonsense |
probably null |
|
R5059:Apol7a
|
UTSW |
15 |
77,274,012 (GRCm39) |
unclassified |
probably benign |
|
R6807:Apol7a
|
UTSW |
15 |
77,277,520 (GRCm39) |
splice site |
probably null |
|
R6995:Apol7a
|
UTSW |
15 |
77,274,176 (GRCm39) |
unclassified |
probably benign |
|
R7824:Apol7a
|
UTSW |
15 |
77,273,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R8364:Apol7a
|
UTSW |
15 |
77,273,820 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8375:Apol7a
|
UTSW |
15 |
77,273,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R9396:Apol7a
|
UTSW |
15 |
77,273,925 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9471:Apol7a
|
UTSW |
15 |
77,273,680 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2014-01-21 |