Incidental Mutation 'R5018:Apol7b'
| ID |
389066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol7b
|
| Ensembl Gene |
ENSMUSG00000068252 |
| Gene Name |
apolipoprotein L 7b |
| Synonyms |
|
| MMRRC Submission |
042609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5018 (G1)
|
| Quality Score |
96 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77306409-77331660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77308916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 61
(F61L)
|
| 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: F61L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: F61L
| 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
AA Change: F61L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
T |
14: 68,809,228 (GRCm39) |
F245I |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Alx4 |
G |
T |
2: 93,507,764 (GRCm39) |
G353V |
probably damaging |
Het |
| Aunip |
T |
A |
4: 134,250,928 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
C |
A |
2: 143,704,802 (GRCm39) |
R17L |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,947,054 (GRCm39) |
D2926E |
probably damaging |
Het |
| Dmwd |
A |
G |
7: 18,812,044 (GRCm39) |
D166G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,260 (GRCm39) |
S1233P |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 118,094,463 (GRCm39) |
N868K |
probably benign |
Het |
| Eea1 |
T |
C |
10: 95,846,899 (GRCm39) |
V393A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,730,109 (GRCm39) |
V67A |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,787 (GRCm39) |
|
probably null |
Het |
| Hal |
T |
C |
10: 93,343,413 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,277,346 (GRCm39) |
L371Q |
probably damaging |
Het |
| Hpse2 |
A |
G |
19: 43,373,263 (GRCm39) |
F122S |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,099,972 (GRCm39) |
I1509V |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,929,156 (GRCm39) |
D334G |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,279,392 (GRCm39) |
D3870N |
probably damaging |
Het |
| Nlrc5 |
C |
T |
8: 95,252,080 (GRCm39) |
A1867V |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,111 (GRCm39) |
L330P |
probably damaging |
Het |
| Or10g3b |
A |
C |
14: 52,586,736 (GRCm39) |
C256G |
possibly damaging |
Het |
| Pcdh15 |
T |
G |
10: 74,479,607 (GRCm39) |
S573A |
possibly damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
T |
A |
19: 44,326,048 (GRCm39) |
M134K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,309,291 (GRCm39) |
|
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,018,175 (GRCm39) |
S865T |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,845 (GRCm39) |
T309I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,634 (GRCm39) |
E837K |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,833,672 (GRCm39) |
D1095G |
probably benign |
Het |
| Trat1 |
A |
T |
16: 48,555,168 (GRCm39) |
L188* |
probably null |
Het |
| Ubn1 |
A |
G |
16: 4,881,589 (GRCm39) |
D207G |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,281,052 (GRCm39) |
Y219H |
probably damaging |
Het |
| Ugt2b1 |
G |
T |
5: 87,073,821 (GRCm39) |
Y179* |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,201,141 (GRCm39) |
D272V |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,774 (GRCm39) |
E497G |
probably benign |
Het |
| Vmn2r91 |
G |
T |
17: 18,356,700 (GRCm39) |
C789F |
probably damaging |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- ACACTTAACCAGCTTGTCTCTG -3'
(R):5'- TTCCTGTGACCATGGGAAGTTAG -3'
Sequencing Primer
(F):5'- ACCAGCTTGTCTCTGAATATTCAATC -3'
(R):5'- GTAAGTACACTGCAGCTGTCTTCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation