Incidental Mutation 'IGL01419:Atp5f1a'
| ID |
80351 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp5f1a
|
| Ensembl Gene |
ENSMUSG00000025428 |
| Gene Name |
ATP synthase F1 subunit alpha |
| Synonyms |
Atp5a1, Atpm, D18Ertd206e, Mom2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77861468-77870569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77865233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026495]
[ENSMUST00000114748]
[ENSMUST00000135678]
|
| AlphaFold |
Q03265 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026495
AA Change: S52P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_ab_N
|
67 |
135 |
3.4e-17 |
PFAM |
|
Pfam:ATP-synt_ab
|
192 |
415 |
5.7e-76 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
427 |
528 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114748
AA Change: S2P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_ab_N
|
17 |
85 |
1.1e-19 |
PFAM |
|
Pfam:ATP-synt_ab
|
141 |
365 |
4.8e-75 |
PFAM |
|
Pfam:ATP-synt_ab_C
|
377 |
479 |
2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128073
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135678
AA Change: S52P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120436
Gene: ENSMUSG00000025428
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
PDB:2W6J|C
|
22 |
78 |
5e-27 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146869
|
| 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 a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying a targeted mutation of this gene display preweaning and embryonic lethality. Heterozygous mutants exhibit decreased body weight and lean body mass and reduced circulating insulin, serum albumin, and total protein levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
T |
2: 25,327,526 (GRCm39) |
T672S |
probably damaging |
Het |
| Adamts14 |
A |
T |
10: 61,041,321 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,277 (GRCm39) |
E791G |
probably damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,354 (GRCm39) |
R584G |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,052,251 (GRCm39) |
I1218F |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,192,351 (GRCm39) |
S462P |
possibly damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,040 (GRCm39) |
H202R |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,102,270 (GRCm39) |
S1323P |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,667,382 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,420 (GRCm39) |
I242K |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,086 (GRCm39) |
T27A |
probably damaging |
Het |
| D930048N14Rik |
C |
T |
11: 51,545,603 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
A |
T |
2: 104,552,455 (GRCm39) |
Y451N |
possibly damaging |
Het |
| Diaph3 |
C |
A |
14: 87,202,989 (GRCm39) |
G623* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,317,371 (GRCm39) |
T435A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,096,816 (GRCm39) |
S575G |
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,210,790 (GRCm39) |
Y407F |
probably benign |
Het |
| Fzd4 |
C |
A |
7: 89,056,943 (GRCm39) |
A330E |
probably damaging |
Het |
| Gm17415 |
A |
G |
1: 93,349,672 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
C |
T |
9: 107,556,633 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,725,081 (GRCm39) |
Y76C |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,103,939 (GRCm39) |
H1079Y |
probably benign |
Het |
| Helz |
T |
G |
11: 107,577,340 (GRCm39) |
I1897S |
unknown |
Het |
| Hspa12a |
T |
C |
19: 58,816,681 (GRCm39) |
|
probably null |
Het |
| Kcne1 |
G |
T |
16: 92,145,534 (GRCm39) |
F103L |
probably benign |
Het |
| Lrrc20 |
A |
T |
10: 61,383,874 (GRCm39) |
S94C |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,147,111 (GRCm39) |
T642A |
probably benign |
Het |
| Ly6g5b |
A |
G |
17: 35,333,494 (GRCm39) |
L106P |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,423 (GRCm39) |
S698G |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,900 (GRCm39) |
V334A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,116,545 (GRCm39) |
Y964* |
probably null |
Het |
| Or4c123 |
T |
C |
2: 89,126,689 (GRCm39) |
|
probably benign |
Het |
| Or8k3 |
A |
T |
2: 86,058,973 (GRCm39) |
I114N |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,588 (GRCm39) |
F497L |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,825,589 (GRCm39) |
M343V |
possibly damaging |
Het |
| Phactr3 |
C |
T |
2: 177,920,855 (GRCm39) |
T231I |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,890,980 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,489,351 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
G |
T |
4: 142,860,218 (GRCm39) |
P1024H |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,448 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,653,030 (GRCm39) |
P3835Q |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,353 (GRCm39) |
T87A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,814,723 (GRCm39) |
E683V |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,528 (GRCm39) |
L214P |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,985,835 (GRCm39) |
S250G |
probably benign |
Het |
| Slc27a6 |
T |
A |
18: 58,742,281 (GRCm39) |
D498E |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,154,894 (GRCm39) |
D1410G |
probably benign |
Het |
| Tas2r134 |
T |
A |
2: 51,517,759 (GRCm39) |
Y79* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,333,295 (GRCm39) |
D857G |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,498 (GRCm39) |
N432S |
probably damaging |
Het |
| Tubg2 |
C |
A |
11: 101,049,883 (GRCm39) |
D176E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,039,264 (GRCm39) |
W466R |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,118 (GRCm39) |
M692K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,807 (GRCm39) |
K143E |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,000 (GRCm39) |
L635F |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,267 (GRCm39) |
|
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,910 (GRCm39) |
M689K |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,325 (GRCm39) |
Y79H |
probably benign |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,186 (GRCm39) |
F224L |
probably benign |
Het |
| Zfp493 |
T |
G |
13: 67,934,921 (GRCm39) |
I291M |
probably benign |
Het |
|
| Other mutations in Atp5f1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Atp5f1a
|
APN |
18 |
77,868,012 (GRCm39) |
intron |
probably benign |
|
|
IGL01585:Atp5f1a
|
APN |
18 |
77,868,758 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02973:Atp5f1a
|
APN |
18 |
77,867,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Atp5f1a
|
UTSW |
18 |
77,867,895 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0344:Atp5f1a
|
UTSW |
18 |
77,867,895 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0399:Atp5f1a
|
UTSW |
18 |
77,869,536 (GRCm39) |
nonsense |
probably null |
|
|
R0464:Atp5f1a
|
UTSW |
18 |
77,867,622 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1471:Atp5f1a
|
UTSW |
18 |
77,868,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Atp5f1a
|
UTSW |
18 |
77,869,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1630:Atp5f1a
|
UTSW |
18 |
77,865,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2102:Atp5f1a
|
UTSW |
18 |
77,870,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4424:Atp5f1a
|
UTSW |
18 |
77,867,766 (GRCm39) |
intron |
probably benign |
|
|
R4746:Atp5f1a
|
UTSW |
18 |
77,866,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4864:Atp5f1a
|
UTSW |
18 |
77,869,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5191:Atp5f1a
|
UTSW |
18 |
77,867,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6217:Atp5f1a
|
UTSW |
18 |
77,869,056 (GRCm39) |
missense |
probably benign |
|
|
R6262:Atp5f1a
|
UTSW |
18 |
77,868,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Atp5f1a
|
UTSW |
18 |
77,866,930 (GRCm39) |
splice site |
probably null |
|
|
R6284:Atp5f1a
|
UTSW |
18 |
77,866,168 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6873:Atp5f1a
|
UTSW |
18 |
77,863,540 (GRCm39) |
nonsense |
probably null |
|
|
R7442:Atp5f1a
|
UTSW |
18 |
77,866,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7661:Atp5f1a
|
UTSW |
18 |
77,861,802 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7696:Atp5f1a
|
UTSW |
18 |
77,868,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Atp5f1a
|
UTSW |
18 |
77,869,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8473:Atp5f1a
|
UTSW |
18 |
77,867,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Atp5f1a
|
UTSW |
18 |
77,866,923 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9062:Atp5f1a
|
UTSW |
18 |
77,866,459 (GRCm39) |
nonsense |
probably null |
|
|
R9275:Atp5f1a
|
UTSW |
18 |
77,868,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Atp5f1a
|
UTSW |
18 |
77,868,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Atp5f1a
|
UTSW |
18 |
77,868,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation