Incidental Mutation 'IGL02169:Apol7c'
| ID |
282814 |
| 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 # |
IGL02169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77409052-77417516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 77410616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 110
(D110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062562]
[ENSMUST00000230863]
|
| AlphaFold |
Q8C6E1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062562
AA Change: D110A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050745
Gene: ENSMUSG00000044309
AA Change: D110A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,843,408 (GRCm39) |
I1001F |
probably damaging |
Het |
| Amfr |
A |
T |
8: 94,731,858 (GRCm39) |
|
probably null |
Het |
| Bcr |
A |
G |
10: 74,995,714 (GRCm39) |
N899S |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,702,126 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
G |
A |
13: 73,759,782 (GRCm39) |
V281I |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,311,054 (GRCm39) |
|
probably benign |
Het |
| Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,415,836 (GRCm39) |
D385G |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,492 (GRCm39) |
V294A |
probably damaging |
Het |
| Foxj2 |
A |
G |
6: 122,805,425 (GRCm39) |
N99S |
probably damaging |
Het |
| Gabrr1 |
T |
G |
4: 33,160,261 (GRCm39) |
V315G |
probably damaging |
Het |
| Gm21988 |
T |
C |
11: 70,129,764 (GRCm39) |
E25G |
probably benign |
Het |
| Islr |
A |
T |
9: 58,065,415 (GRCm39) |
F31I |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,171 (GRCm39) |
L109Q |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,490,290 (GRCm39) |
I96T |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,028,757 (GRCm39) |
D330G |
probably damaging |
Het |
| Or2ag19 |
T |
A |
7: 106,444,473 (GRCm39) |
Y218* |
probably null |
Het |
| Or8k33 |
T |
C |
2: 86,384,226 (GRCm39) |
M81V |
probably benign |
Het |
| Phtf1 |
C |
A |
3: 103,904,815 (GRCm39) |
L488I |
probably benign |
Het |
| Plac8l1 |
T |
C |
18: 42,312,008 (GRCm39) |
D137G |
probably damaging |
Het |
| Pth1r |
G |
A |
9: 110,553,503 (GRCm39) |
T392I |
probably damaging |
Het |
| Rab43 |
A |
G |
6: 87,788,406 (GRCm39) |
F41L |
probably damaging |
Het |
| Ralgapb |
C |
T |
2: 158,268,124 (GRCm39) |
L76F |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,958,053 (GRCm39) |
|
probably null |
Het |
| Rpl27a |
T |
C |
7: 109,119,185 (GRCm39) |
I43T |
probably benign |
Het |
| Set |
G |
A |
2: 29,959,536 (GRCm39) |
D129N |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,276,786 (GRCm39) |
Y604F |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,629,792 (GRCm39) |
V491A |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,523,406 (GRCm39) |
T429A |
probably damaging |
Het |
| Vmn1r128 |
C |
T |
7: 21,084,163 (GRCm39) |
P289L |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,125,823 (GRCm39) |
F356S |
probably damaging |
Het |
| Zfp687 |
G |
A |
3: 94,918,743 (GRCm39) |
T343I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,604,745 (GRCm39) |
|
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 |
|
IGL01653:Apol7c
|
APN |
15 |
77,410,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation