Incidental Mutation 'R1425:Atp6ap1l'
| ID |
161263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6ap1l
|
| Ensembl Gene |
ENSMUSG00000078958 |
| Gene Name |
ATPase, H+ transporting, lysosomal accessory protein 1-like |
| Synonyms |
EG435376 |
| MMRRC Submission |
039481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1425 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
91031558-91053478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91047638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 58
(N58S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109541]
[ENSMUST00000182446]
|
| AlphaFold |
D3Z5W0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109541
AA Change: N58S
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: N58S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lamp
|
19 |
287 |
2.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182104
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182932
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183162
AA Change: N20S
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Gdpd4 |
A |
T |
7: 97,623,219 (GRCm39) |
T277S |
probably benign |
Het |
| Itgb2 |
G |
A |
10: 77,383,130 (GRCm39) |
G167S |
probably null |
Het |
| Kcnt2 |
A |
G |
1: 140,310,766 (GRCm39) |
T191A |
probably damaging |
Het |
| Or52b1 |
A |
T |
7: 104,978,922 (GRCm39) |
F159Y |
probably damaging |
Het |
| Ppm1k |
C |
T |
6: 57,501,774 (GRCm39) |
G130R |
probably damaging |
Het |
| Rfc1 |
A |
C |
5: 65,476,861 (GRCm39) |
F6V |
probably damaging |
Het |
| Sec14l3 |
A |
G |
11: 4,016,487 (GRCm39) |
E53G |
probably damaging |
Het |
| Tas2r115 |
T |
G |
6: 132,714,442 (GRCm39) |
S170R |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,818,894 (GRCm39) |
T366A |
possibly damaging |
Het |
|
| Other mutations in Atp6ap1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02823:Atp6ap1l
|
APN |
13 |
91,047,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0545:Atp6ap1l
|
UTSW |
13 |
91,031,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1224:Atp6ap1l
|
UTSW |
13 |
91,034,675 (GRCm39) |
nonsense |
probably null |
|
|
R1453:Atp6ap1l
|
UTSW |
13 |
91,046,866 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1784:Atp6ap1l
|
UTSW |
13 |
91,053,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1853:Atp6ap1l
|
UTSW |
13 |
91,031,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Atp6ap1l
|
UTSW |
13 |
91,031,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Atp6ap1l
|
UTSW |
13 |
91,031,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Atp6ap1l
|
UTSW |
13 |
91,046,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5123:Atp6ap1l
|
UTSW |
13 |
91,047,017 (GRCm39) |
intron |
probably benign |
|
|
R5352:Atp6ap1l
|
UTSW |
13 |
91,031,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5746:Atp6ap1l
|
UTSW |
13 |
91,031,698 (GRCm39) |
missense |
probably benign |
|
|
R6492:Atp6ap1l
|
UTSW |
13 |
91,031,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Atp6ap1l
|
UTSW |
13 |
91,034,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7150:Atp6ap1l
|
UTSW |
13 |
91,031,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Atp6ap1l
|
UTSW |
13 |
91,031,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Atp6ap1l
|
UTSW |
13 |
91,039,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Atp6ap1l
|
UTSW |
13 |
91,046,979 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTTTCTCAACTACCCAGAGTTCAAG -3'
(R):5'- CTGTGAAGCCTCCGCTACAGATG -3'
Sequencing Primer
(F):5'- CCCAGAGTTCAAGTAAGATTGTG -3'
(R):5'- CTCAAGAGTCTTCCAGTAAAGAAGTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation