Incidental Mutation 'R1224:Atp6ap1l'
| ID |
152844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp6ap1l
|
| Ensembl Gene |
ENSMUSG00000078958 |
| Gene Name |
ATPase, H+ transporting, lysosomal accessory protein 1-like |
| Synonyms |
EG435376 |
| MMRRC Submission |
039293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1224 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
91031558-91053478 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 91034675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 236
(Q236*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109541]
[ENSMUST00000182446]
|
| AlphaFold |
D3Z5W0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109541
AA Change: Q236*
|
| SMART Domains |
Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: Q236*
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,931,408 (GRCm39) |
E1248D |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,471 (GRCm39) |
|
probably null |
Het |
| Aldh9a1 |
T |
A |
1: 167,180,227 (GRCm39) |
I107N |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,744,706 (GRCm39) |
I344K |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,778,141 (GRCm39) |
D204V |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,434,878 (GRCm39) |
S346G |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,207,869 (GRCm39) |
C207S |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,710,548 (GRCm39) |
D1190G |
possibly damaging |
Het |
| Gimap8 |
G |
A |
6: 48,627,629 (GRCm39) |
S201N |
probably benign |
Het |
| Gm10153 |
A |
G |
7: 141,744,072 (GRCm39) |
S19P |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,938,824 (GRCm39) |
L75P |
probably damaging |
Het |
| Krt31 |
C |
T |
11: 99,940,690 (GRCm39) |
|
probably null |
Het |
| Ly6a |
A |
G |
15: 74,868,327 (GRCm39) |
V54A |
possibly damaging |
Het |
| Map3k7cl |
T |
A |
16: 87,352,891 (GRCm39) |
D21E |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,873,543 (GRCm39) |
L230P |
probably damaging |
Het |
| Rhog |
C |
A |
7: 101,888,959 (GRCm39) |
V165F |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,844 (GRCm39) |
V313A |
probably benign |
Het |
| Sox14 |
G |
C |
9: 99,757,168 (GRCm39) |
H190Q |
probably damaging |
Het |
| Sval2 |
G |
A |
6: 41,841,188 (GRCm39) |
D103N |
probably benign |
Het |
| Tm9sf3 |
A |
T |
19: 41,211,634 (GRCm39) |
V403D |
probably damaging |
Het |
| Tmem269 |
T |
C |
4: 119,074,323 (GRCm39) |
K18R |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,139 (GRCm39) |
F49S |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,809,311 (GRCm39) |
T299S |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,775,324 (GRCm39) |
V6A |
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 |
|
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 |
|
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'- AAATGTCAGTCACCGGGCTTCAG -3'
(R):5'- TGGTTTAGTTTACACCGCGTCGAG -3'
Sequencing Primer
(F):5'- CTGCACTAGGGTTTAGATAAGTACC -3'
(R):5'- GTTTACACCGCGTCGAGATAATC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation