Incidental Mutation 'R6388:Atpaf2'
ID |
515641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atpaf2
|
Ensembl Gene |
ENSMUSG00000042709 |
Gene Name |
ATP synthase mitochondrial F1 complex assembly factor 2 |
Synonyms |
ATP12, ATP12p |
MMRRC Submission |
044537-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6388 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60291452-60309283 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to A
at 60307833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070681]
[ENSMUST00000108721]
[ENSMUST00000139477]
[ENSMUST00000145532]
|
AlphaFold |
Q91YY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070681
|
SMART Domains |
Protein: ENSMUSP00000064926 Gene: ENSMUSG00000018415
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Pfam:Vac_ImportDeg
|
38 |
206 |
3.4e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108721
|
SMART Domains |
Protein: ENSMUSP00000104361 Gene: ENSMUSG00000042709
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
Pfam:ATP12
|
56 |
177 |
7.9e-43 |
PFAM |
low complexity region
|
227 |
237 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138696
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139477
|
SMART Domains |
Protein: ENSMUSP00000135441 Gene: ENSMUSG00000018415
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
Pfam:Vac_ImportDeg
|
37 |
209 |
3.7e-70 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145532
|
SMART Domains |
Protein: ENSMUSP00000135761 Gene: ENSMUSG00000042709
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
Pfam:ATP12
|
56 |
154 |
9.3e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154387
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156966
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
Validation Efficiency |
100% (35/35) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
Other mutations in Atpaf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Atpaf2
|
APN |
11 |
60,300,410 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00504:Atpaf2
|
APN |
11 |
60,296,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01941:Atpaf2
|
APN |
11 |
60,294,724 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02960:Atpaf2
|
APN |
11 |
60,296,650 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03082:Atpaf2
|
APN |
11 |
60,294,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R1103:Atpaf2
|
UTSW |
11 |
60,294,776 (GRCm39) |
missense |
probably benign |
0.06 |
R4782:Atpaf2
|
UTSW |
11 |
60,295,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R5180:Atpaf2
|
UTSW |
11 |
60,296,695 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5569:Atpaf2
|
UTSW |
11 |
60,307,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R5947:Atpaf2
|
UTSW |
11 |
60,296,708 (GRCm39) |
splice site |
probably benign |
|
R8206:Atpaf2
|
UTSW |
11 |
60,295,304 (GRCm39) |
missense |
probably damaging |
0.97 |
R8359:Atpaf2
|
UTSW |
11 |
60,298,129 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Atpaf2
|
UTSW |
11 |
60,307,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
|
Posted On |
2018-05-04 |