Incidental Mutation 'IGL03127:Apol7c'
| ID |
410183 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apol7c
|
| Ensembl Gene |
ENSMUSG00000044309 |
| Gene Name |
apolipoprotein L 7c |
| Synonyms |
2210421G13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77409052-77417516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77410106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 280
(M280T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062562]
[ENSMUST00000230863]
|
| AlphaFold |
Q8C6E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062562
AA Change: M280T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: M280T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
81 |
1.7e-12 |
PFAM |
|
Pfam:ApoL
|
77 |
367 |
5.1e-121 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230863
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
| Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
| H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
Het |
|
| Other mutations in Apol7c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Apol7c
|
APN |
15 |
77,410,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01653:Apol7c
|
APN |
15 |
77,410,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Apol7c
|
APN |
15 |
77,410,616 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02262:Apol7c
|
APN |
15 |
77,410,013 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02375:Apol7c
|
APN |
15 |
77,413,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02645:Apol7c
|
APN |
15 |
77,413,083 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02934:Apol7c
|
APN |
15 |
77,410,318 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0130:Apol7c
|
UTSW |
15 |
77,410,562 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0659:Apol7c
|
UTSW |
15 |
77,410,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1638:Apol7c
|
UTSW |
15 |
77,410,418 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1980:Apol7c
|
UTSW |
15 |
77,410,244 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4366:Apol7c
|
UTSW |
15 |
77,410,589 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4466:Apol7c
|
UTSW |
15 |
77,410,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4624:Apol7c
|
UTSW |
15 |
77,410,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Apol7c
|
UTSW |
15 |
77,410,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Apol7c
|
UTSW |
15 |
77,409,923 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5367:Apol7c
|
UTSW |
15 |
77,410,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Apol7c
|
UTSW |
15 |
77,410,599 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6239:Apol7c
|
UTSW |
15 |
77,410,631 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6860:Apol7c
|
UTSW |
15 |
77,410,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7179:Apol7c
|
UTSW |
15 |
77,409,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7234:Apol7c
|
UTSW |
15 |
77,409,875 (GRCm39) |
nonsense |
probably null |
|
|
R7513:Apol7c
|
UTSW |
15 |
77,409,911 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7779:Apol7c
|
UTSW |
15 |
77,409,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8499:Apol7c
|
UTSW |
15 |
77,410,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9335:Apol7c
|
UTSW |
15 |
77,409,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9354:Apol7c
|
UTSW |
15 |
77,410,112 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2016-08-02 |
Incidental Mutation