Incidental Mutation 'R6687:Atp6ap1l'
| ID |
527840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6ap1l
|
| Ensembl Gene |
ENSMUSG00000078958 |
| Gene Name |
ATPase, H+ transporting, lysosomal accessory protein 1-like |
| Synonyms |
EG435376 |
| MMRRC Submission |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
91031558-91053478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91034842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 180
(F180S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109541]
[ENSMUST00000182446]
|
| AlphaFold |
D3Z5W0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109541
AA Change: F180S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: F180S
| 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 |
probably benign
Transcript: ENSMUST00000183162
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
| Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
| Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
probably 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 |
|
|
R1425:Atp6ap1l
|
UTSW |
13 |
91,047,638 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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'- TCAACTGAGTTTCTTTGGCACC -3'
(R):5'- GGCGCCATTGTACTGTTCAC -3'
Sequencing Primer
(F):5'- TCTTTGGCACCAAGTAAAGAGTGC -3'
(R):5'- GCCATTGTACTGTTCACGGATGAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation