Incidental Mutation 'R5746:Atp6ap1l'
ID |
445794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp6ap1l
|
Ensembl Gene |
ENSMUSG00000078958 |
Gene Name |
ATPase, H+ transporting, lysosomal accessory protein 1-like |
Synonyms |
EG435376 |
MMRRC Submission |
043199-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5746 (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 91031698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 328
(N328S)
|
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: N328S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105168 Gene: ENSMUSG00000078958 AA Change: N328S
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora3 |
A |
G |
3: 105,815,126 (GRCm39) |
E292G |
possibly damaging |
Het |
Ank1 |
C |
T |
8: 23,606,612 (GRCm39) |
T1187I |
probably damaging |
Het |
Ankrd16 |
T |
A |
2: 11,789,178 (GRCm39) |
I255K |
probably damaging |
Het |
Cbln3 |
A |
G |
14: 56,120,601 (GRCm39) |
S144P |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,358,810 (GRCm39) |
L78Q |
probably null |
Het |
Cpsf1 |
C |
T |
15: 76,484,037 (GRCm39) |
R761H |
probably benign |
Het |
Cyp2d10 |
T |
G |
15: 82,289,472 (GRCm39) |
E213D |
probably benign |
Het |
Gba2 |
T |
C |
4: 43,568,465 (GRCm39) |
|
probably null |
Het |
Glb1l2 |
G |
A |
9: 26,708,086 (GRCm39) |
A29V |
probably benign |
Het |
Gm11149 |
C |
T |
9: 49,457,494 (GRCm39) |
G393S |
probably damaging |
Het |
Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,544,635 (GRCm39) |
N574S |
probably damaging |
Het |
Kdm2b |
A |
G |
5: 123,017,427 (GRCm39) |
V1099A |
probably damaging |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Ly6g |
A |
T |
15: 75,028,596 (GRCm39) |
N19Y |
possibly damaging |
Het |
Nexn |
TCTTCCTTC |
TCTTC |
3: 151,948,513 (GRCm39) |
|
probably benign |
Het |
Nod2 |
T |
C |
8: 89,390,970 (GRCm39) |
S411P |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Ptpn14 |
G |
A |
1: 189,578,610 (GRCm39) |
|
probably null |
Het |
Smg6 |
G |
A |
11: 75,030,113 (GRCm39) |
G211E |
probably damaging |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,046,184 (GRCm39) |
S440G |
probably damaging |
Het |
Tpm2 |
A |
G |
4: 43,519,731 (GRCm39) |
V85A |
possibly damaging |
Het |
Ttf1 |
G |
T |
2: 28,955,754 (GRCm39) |
A373S |
probably damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,201,560 (GRCm39) |
T315S |
probably benign |
Het |
Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
Zfp146 |
T |
C |
7: 29,861,818 (GRCm39) |
S75G |
probably benign |
Het |
Zfp994 |
A |
G |
17: 22,420,254 (GRCm39) |
Y232H |
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 |
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'- TCACTGCCCTAGACCTACCTAG -3'
(R):5'- GCTATTCTGATCGGTCTGGC -3'
Sequencing Primer
(F):5'- TGCCCTAGACCTACCTAGCAAAG -3'
(R):5'- GATCGGTCTGGCCATGTCTC -3'
|
Posted On |
2016-11-21 |