Incidental Mutation 'IGL01086:Apol7b'
| ID |
52784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apol7b
|
| Ensembl Gene |
ENSMUSG00000068252 |
| Gene Name |
apolipoprotein L 7b |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77306409-77331660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77308114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 127
(E127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089469]
[ENSMUST00000229434]
|
| AlphaFold |
B1AQP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089469
AA Change: E127G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: E127G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
82 |
7.9e-15 |
PFAM |
|
Pfam:ApoL
|
77 |
367 |
1.9e-123 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229381
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229434
AA Change: E127G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,729 (GRCm39) |
R104S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Aim2 |
A |
G |
1: 173,282,999 (GRCm39) |
Y27C |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,474,066 (GRCm39) |
F1118L |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,347 (GRCm39) |
D940G |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,131,789 (GRCm39) |
V376I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,650 (GRCm39) |
E195G |
probably benign |
Het |
| Coro6 |
C |
A |
11: 77,357,374 (GRCm39) |
C194* |
probably null |
Het |
| Crebbp |
T |
C |
16: 3,997,416 (GRCm39) |
M223V |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,116,857 (GRCm39) |
C157S |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,579,611 (GRCm39) |
L3048S |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,613,960 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,688 (GRCm39) |
Y732C |
probably damaging |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,707 (GRCm39) |
I7V |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,788,488 (GRCm39) |
F216S |
probably damaging |
Het |
| Lcn6 |
T |
C |
2: 25,570,792 (GRCm39) |
F61L |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,871 (GRCm39) |
|
probably benign |
Het |
| Or5w18 |
T |
A |
2: 87,633,544 (GRCm39) |
Y266* |
probably null |
Het |
| Otof |
C |
T |
5: 30,533,617 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
T |
C |
1: 133,019,356 (GRCm39) |
C1035R |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,227,984 (GRCm39) |
N298D |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,963,648 (GRCm39) |
|
probably benign |
Het |
| Pwp1 |
T |
C |
10: 85,715,757 (GRCm39) |
|
probably null |
Het |
| Scel |
A |
G |
14: 103,849,827 (GRCm39) |
I631V |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,300,503 (GRCm39) |
M1288L |
probably benign |
Het |
| Serpina11 |
T |
A |
12: 103,952,329 (GRCm39) |
D147V |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,311 (GRCm39) |
C1266S |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,216 (GRCm39) |
V117A |
probably damaging |
Het |
| Tmem161b |
T |
C |
13: 84,370,541 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
A |
T |
11: 115,681,110 (GRCm39) |
T158S |
probably benign |
Het |
| Tomm40l |
T |
C |
1: 171,047,878 (GRCm39) |
|
probably null |
Het |
| Traf6 |
A |
G |
2: 101,515,128 (GRCm39) |
I95V |
probably benign |
Het |
| Ttc13 |
A |
G |
8: 125,402,085 (GRCm39) |
I686T |
probably damaging |
Het |
| Zmat2 |
C |
T |
18: 36,929,163 (GRCm39) |
H104Y |
probably damaging |
Het |
|
| Other mutations in Apol7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02081:Apol7b
|
APN |
15 |
77,307,736 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02350:Apol7b
|
APN |
15 |
77,307,832 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02357:Apol7b
|
APN |
15 |
77,307,832 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0506:Apol7b
|
UTSW |
15 |
77,309,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1187:Apol7b
|
UTSW |
15 |
77,307,603 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1433:Apol7b
|
UTSW |
15 |
77,309,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Apol7b
|
UTSW |
15 |
77,307,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2272:Apol7b
|
UTSW |
15 |
77,307,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Apol7b
|
UTSW |
15 |
77,308,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4485:Apol7b
|
UTSW |
15 |
77,307,866 (GRCm39) |
missense |
probably benign |
|
|
R4571:Apol7b
|
UTSW |
15 |
77,307,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4823:Apol7b
|
UTSW |
15 |
77,311,982 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5018:Apol7b
|
UTSW |
15 |
77,308,916 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5944:Apol7b
|
UTSW |
15 |
77,307,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6514:Apol7b
|
UTSW |
15 |
77,308,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6519:Apol7b
|
UTSW |
15 |
77,307,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6808:Apol7b
|
UTSW |
15 |
77,308,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6904:Apol7b
|
UTSW |
15 |
77,307,625 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7570:Apol7b
|
UTSW |
15 |
77,307,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7571:Apol7b
|
UTSW |
15 |
77,307,677 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7603:Apol7b
|
UTSW |
15 |
77,307,656 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8162:Apol7b
|
UTSW |
15 |
77,307,430 (GRCm39) |
missense |
probably benign |
|
|
R8963:Apol7b
|
UTSW |
15 |
77,308,120 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9028:Apol7b
|
UTSW |
15 |
77,307,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Apol7b
|
UTSW |
15 |
77,308,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation