Incidental Mutation 'IGL00504:Atpaf2'
| ID |
4587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atpaf2
|
| Ensembl Gene |
ENSMUSG00000042709 |
| Gene Name |
ATP synthase mitochondrial F1 complex assembly factor 2 |
| Synonyms |
ATP12, ATP12p |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
60291452-60309283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60296629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 168
(D168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108721]
[ENSMUST00000145532]
|
| AlphaFold |
Q91YY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108721
AA Change: D168G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104361
Gene: ENSMUSG00000042709
AA Change: D168G
| 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 |
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 |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cela3b |
A |
T |
4: 137,150,592 (GRCm39) |
V202E |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,202,034 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,024,338 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
G |
7: 86,383,351 (GRCm39) |
R465S |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,714 (GRCm39) |
Q214L |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,026 (GRCm39) |
|
probably null |
Het |
| Lmln |
A |
G |
16: 32,903,435 (GRCm39) |
N283S |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,981,352 (GRCm39) |
N508S |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,467,518 (GRCm39) |
G1419C |
probably benign |
Het |
| Pafah1b3 |
T |
A |
7: 24,995,614 (GRCm39) |
T115S |
probably benign |
Het |
| Pcdhb5 |
C |
A |
18: 37,455,162 (GRCm39) |
A514E |
probably damaging |
Het |
| Prl8a8 |
G |
T |
13: 27,693,593 (GRCm39) |
T144K |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,136,272 (GRCm39) |
K105* |
probably null |
Het |
| Rin1 |
T |
C |
19: 5,102,438 (GRCm39) |
S316P |
probably benign |
Het |
| Serpinb3b |
A |
T |
1: 107,085,411 (GRCm39) |
F110Y |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,607 (GRCm39) |
P55L |
probably benign |
Het |
| Slc10a2 |
T |
A |
8: 5,141,668 (GRCm39) |
S239C |
probably damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,141,667 (GRCm39) |
S239I |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,225,002 (GRCm39) |
V30A |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,018,035 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
T |
C |
7: 137,811,533 (GRCm39) |
R554G |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,202 (GRCm39) |
I116T |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,242,890 (GRCm39) |
S188P |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,407,925 (GRCm39) |
R1398H |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,394 (GRCm39) |
V2050E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,229,853 (GRCm39) |
C362R |
probably damaging |
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 |
|
|
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 |
|
|
R6388:Atpaf2
|
UTSW |
11 |
60,307,833 (GRCm39) |
start gained |
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation