Incidental Mutation 'IGL01653:Apol7c'
| ID |
102881 |
| 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 # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77409052-77417516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77410500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 149
(C149R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062562]
[ENSMUST00000230863]
|
| AlphaFold |
Q8C6E1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062562
AA Change: C149R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: C149R
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
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 |
|
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 |
|
IGL03127:Apol7c
|
APN |
15 |
77,410,106 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
2014-01-21 |
Incidental Mutation