Incidental Mutation 'R5882:Apol7e'
| ID |
454487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol7e
|
| Ensembl Gene |
ENSMUSG00000071716 |
| Gene Name |
apolipoprotein L 7e |
| Synonyms |
ENSMUSG00000071716 |
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77583057-77603485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77602447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 348
(H348Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096358]
|
| AlphaFold |
Q3UZ24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096358
AA Change: H348Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094085
Gene: ENSMUSG00000071716
AA Change: H348Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
20 |
82 |
2.3e-14 |
PFAM |
|
Pfam:ApoL
|
77 |
367 |
6.9e-121 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229450
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230236
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
| Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Apol7e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Apol7e
|
APN |
15 |
77,598,548 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0864:Apol7e
|
UTSW |
15 |
77,601,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Apol7e
|
UTSW |
15 |
77,601,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Apol7e
|
UTSW |
15 |
77,601,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Apol7e
|
UTSW |
15 |
77,602,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1897:Apol7e
|
UTSW |
15 |
77,602,094 (GRCm39) |
missense |
probably benign |
|
|
R2047:Apol7e
|
UTSW |
15 |
77,601,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2311:Apol7e
|
UTSW |
15 |
77,602,236 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2895:Apol7e
|
UTSW |
15 |
77,598,667 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3809:Apol7e
|
UTSW |
15 |
77,602,262 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3842:Apol7e
|
UTSW |
15 |
77,601,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5351:Apol7e
|
UTSW |
15 |
77,602,511 (GRCm39) |
makesense |
probably null |
|
|
R5629:Apol7e
|
UTSW |
15 |
77,602,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5853:Apol7e
|
UTSW |
15 |
77,598,667 (GRCm39) |
missense |
probably benign |
|
|
R6337:Apol7e
|
UTSW |
15 |
77,598,582 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6826:Apol7e
|
UTSW |
15 |
77,602,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7422:Apol7e
|
UTSW |
15 |
77,598,552 (GRCm39) |
nonsense |
probably null |
|
|
R7458:Apol7e
|
UTSW |
15 |
77,598,604 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7470:Apol7e
|
UTSW |
15 |
77,602,143 (GRCm39) |
missense |
probably benign |
|
|
R7492:Apol7e
|
UTSW |
15 |
77,601,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8005:Apol7e
|
UTSW |
15 |
77,602,277 (GRCm39) |
nonsense |
probably null |
|
|
R8119:Apol7e
|
UTSW |
15 |
77,601,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Apol7e
|
UTSW |
15 |
77,602,007 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8671:Apol7e
|
UTSW |
15 |
77,601,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8757:Apol7e
|
UTSW |
15 |
77,602,065 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8759:Apol7e
|
UTSW |
15 |
77,602,065 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9569:Apol7e
|
UTSW |
15 |
77,601,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCATGACCACAGGAAAG -3'
(R):5'- ACTTGGCTGAACTGCAAGG -3'
Sequencing Primer
(F):5'- TCATGACCACAGGAAAGACAAC -3'
(R):5'- TGGCTGAACTGCAAGGCTGTATAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation