Incidental Mutation 'R6262:Atp5f1a'
| ID |
506790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp5f1a
|
| Ensembl Gene |
ENSMUSG00000025428 |
| Gene Name |
ATP synthase F1 subunit alpha |
| Synonyms |
Atp5a1, Atpm, D18Ertd206e, Mom2 |
| MMRRC Submission |
045016-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77861468-77870569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77868912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 429
(V429M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026495]
[ENSMUST00000114748]
[ENSMUST00000135678]
|
| AlphaFold |
Q03265 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026495
AA Change: V429M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: V429M
| 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: V379M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: V379M
| 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 benign
Transcript: ENSMUST00000135678
|
| SMART Domains |
Protein: ENSMUSP00000120436
Gene: ENSMUSG00000025428
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,092,917 (GRCm39) |
T289I |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,334,922 (GRCm39) |
Y1965H |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,125 (GRCm39) |
N455S |
possibly damaging |
Het |
| Art5 |
C |
T |
7: 101,747,338 (GRCm39) |
G147D |
probably benign |
Het |
| Calr4 |
A |
T |
4: 109,108,564 (GRCm39) |
N213I |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,841,413 (GRCm39) |
S810P |
probably benign |
Het |
| Cdh4 |
A |
T |
2: 179,439,419 (GRCm39) |
R189W |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,606 (GRCm39) |
D84G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,705,420 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 45,037,046 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
C |
8: 113,529,843 (GRCm39) |
Y684H |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,655 (GRCm39) |
V292E |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,960 (GRCm39) |
T10A |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,894,913 (GRCm39) |
R3645C |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,772,631 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,784,579 (GRCm39) |
M2787K |
probably benign |
Het |
| Efr3a |
T |
C |
15: 65,729,323 (GRCm39) |
S675P |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,133,680 (GRCm39) |
K451E |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,810,203 (GRCm39) |
M570L |
probably benign |
Het |
| Hs2st1 |
A |
G |
3: 144,140,374 (GRCm39) |
F316L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,403 (GRCm39) |
T193A |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,246,997 (GRCm39) |
D1108V |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,653,720 (GRCm39) |
L86Q |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,452,615 (GRCm39) |
S212P |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,359 (GRCm39) |
S234P |
possibly damaging |
Het |
| Lhx3 |
GTGTTGT |
GTGT |
2: 26,092,435 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,983 (GRCm39) |
S1028P |
possibly damaging |
Het |
| Met |
C |
A |
6: 17,553,403 (GRCm39) |
A1063E |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,494,151 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,552 (GRCm39) |
E1621G |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,052,214 (GRCm39) |
Y991H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,863 (GRCm39) |
V88A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,635,262 (GRCm39) |
Q121R |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,186,225 (GRCm39) |
V1329A |
probably benign |
Het |
| Or2d36 |
T |
C |
7: 106,746,918 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,738 (GRCm39) |
V224A |
probably benign |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,751 (GRCm39) |
F514I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
A |
T |
13: 27,758,126 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Sh3tc1 |
C |
G |
5: 35,857,117 (GRCm39) |
E1241Q |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,732,013 (GRCm39) |
H614L |
possibly damaging |
Het |
| Sort1 |
A |
G |
3: 108,217,527 (GRCm39) |
Y143C |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,141,360 (GRCm39) |
W569R |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,962,693 (GRCm39) |
K127* |
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,638 (GRCm39) |
I223T |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,259,306 (GRCm39) |
I329T |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,810,119 (GRCm39) |
H287R |
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,741 (GRCm39) |
L345P |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,556 (GRCm39) |
C79Y |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,351 (GRCm39) |
K421R |
probably benign |
Het |
| Vwde |
C |
T |
6: 13,205,020 (GRCm39) |
S287N |
probably damaging |
Het |
| Xrcc4 |
A |
T |
13: 89,926,906 (GRCm39) |
M300K |
probably benign |
Het |
| Zan |
A |
T |
5: 137,427,747 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
G |
18: 76,270,413 (GRCm39) |
D167G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,249,881 (GRCm39) |
Y1165C |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,036,353 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,973 (GRCm39) |
T214A |
probably benign |
Het |
|
| Other mutations in Atp5f1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Atp5f1a
|
APN |
18 |
77,865,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGCCATTAATGTGGGTTTG -3'
(R):5'- TGGTACAGGCTACATTAATGGTAC -3'
Sequencing Primer
(F):5'- CATTAATGTGGGTTTGTCTGTGTCCC -3'
(R):5'- TGGTACAGCACAGACCCTAATTACAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation