Incidental Mutation 'R4485:Apol7b'
| ID |
331590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol7b
|
| Ensembl Gene |
ENSMUSG00000068252 |
| Gene Name |
apolipoprotein L 7b |
| Synonyms |
|
| MMRRC Submission |
041741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4485 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77306409-77331660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77307866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 210
(V210L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089469]
[ENSMUST00000229434]
|
| AlphaFold |
B1AQP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089469
AA Change: V210L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: V210L
| 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 benign
Transcript: ENSMUST00000229434
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
| Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,426,306 (GRCm39) |
F214L |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
| Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
| Gm14226 |
G |
A |
2: 154,867,191 (GRCm39) |
V383I |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
| Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
| Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
| Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Pus7l |
G |
T |
15: 94,421,371 (GRCm39) |
H646Q |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
| Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,400,304 (GRCm39) |
M137K |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
| Tmem145 |
A |
G |
7: 25,006,587 (GRCm39) |
E65G |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
| Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,542 (GRCm39) |
W206R |
possibly damaging |
Het |
|
| Other mutations in Apol7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Apol7b
|
APN |
15 |
77,308,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATTAGTTACAAGGCTAGGG -3'
(R):5'- TTGACAAGGTGCACAGGGAC -3'
Sequencing Primer
(F):5'- CATTAGTTACAAGGCTAGGGTTGGC -3'
(R):5'- AGGGACTGCACCATCTCACG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation