Incidental Mutation 'IGL02190:Atp5mf'
| ID |
283850 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp5mf
|
| Ensembl Gene |
ENSMUSG00000038690 |
| Gene Name |
ATP synthase membrane subunit f |
| Synonyms |
hypothetical protein, clone:2-31, 1110019H14Rik, Atp5j2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
IGL02190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145120514-145128351 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to A
at 145120642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037056]
[ENSMUST00000070487]
[ENSMUST00000160422]
[ENSMUST00000160574]
[ENSMUST00000160629]
[ENSMUST00000162360]
[ENSMUST00000161741]
[ENSMUST00000162244]
|
| AlphaFold |
P56135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037056
|
| SMART Domains |
Protein: ENSMUSP00000039726
Gene: ENSMUSG00000038690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WRW
|
1 |
73 |
1.4e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070487
|
| SMART Domains |
Protein: ENSMUSP00000069243
Gene: ENSMUSG00000029625
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
1.7e-5 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
1.4e-10 |
SMART |
|
ZnF_C3H1
|
90 |
110 |
3.7e-1 |
SMART |
|
ZnF_C3H1
|
111 |
136 |
3.4e-9 |
SMART |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
186 |
202 |
4.5e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160422
|
| SMART Domains |
Protein: ENSMUSP00000125019
Gene: ENSMUSG00000029625
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
143 |
168 |
8.27e-7 |
SMART |
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
244 |
260 |
1.04e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160629
|
| SMART Domains |
Protein: ENSMUSP00000124899
Gene: ENSMUSG00000029625
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
143 |
168 |
8.27e-7 |
SMART |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
218 |
234 |
1.04e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160762
|
| SMART Domains |
Protein: ENSMUSP00000125640
Gene: ENSMUSG00000029625
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
29 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
30 |
56 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
58 |
84 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
86 |
110 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
111 |
136 |
8.27e-7 |
SMART |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161741
|
| SMART Domains |
Protein: ENSMUSP00000125504
Gene: ENSMUSG00000038690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WRW
|
6 |
84 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162244
|
| SMART Domains |
Protein: ENSMUSP00000124966
Gene: ENSMUSG00000029625
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
143 |
168 |
8.27e-7 |
SMART |
|
low complexity region
|
175 |
195 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
219 |
235 |
1.04e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
C |
5: 129,217,788 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,172,620 (GRCm39) |
E521G |
probably benign |
Het |
| As3mt |
A |
T |
19: 46,708,384 (GRCm39) |
I224F |
probably benign |
Het |
| Cacna1h |
A |
G |
17: 25,652,000 (GRCm39) |
V48A |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,208,397 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,190 (GRCm39) |
S1838R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,012,140 (GRCm39) |
R841G |
probably benign |
Het |
| Erbb3 |
A |
T |
10: 128,406,879 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
T |
4: 62,223,059 (GRCm39) |
P947T |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,495,469 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
T |
5: 115,752,183 (GRCm39) |
V2100L |
probably damaging |
Het |
| Gemin5 |
A |
C |
11: 58,025,668 (GRCm39) |
V977G |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,332 (GRCm39) |
Y265N |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Ift172 |
C |
T |
5: 31,411,802 (GRCm39) |
V1587I |
possibly damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,609,334 (GRCm39) |
T398A |
probably damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,964,177 (GRCm39) |
V1059L |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,527 (GRCm39) |
D147G |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,488 (GRCm39) |
R847G |
possibly damaging |
Het |
| Nutm1 |
C |
T |
2: 112,079,751 (GRCm39) |
W721* |
probably null |
Het |
| Or1j18 |
T |
C |
2: 36,624,591 (GRCm39) |
L86P |
probably benign |
Het |
| Or2j6 |
T |
C |
7: 139,980,033 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,407 (GRCm39) |
M273T |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,893,004 (GRCm39) |
F227L |
probably benign |
Het |
| Ropn1l |
G |
T |
15: 31,443,487 (GRCm39) |
L182I |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scgb1a1 |
A |
T |
19: 9,065,231 (GRCm39) |
L12Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,944,325 (GRCm39) |
S237P |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,797,962 (GRCm39) |
Q207R |
possibly damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,435 (GRCm39) |
M1V |
probably null |
Het |
| Tox2 |
G |
A |
2: 163,164,926 (GRCm39) |
R522H |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,743,791 (GRCm39) |
N505K |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,870 (GRCm39) |
D444N |
unknown |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,252 (GRCm39) |
E306G |
unknown |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,754 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,240 (GRCm39) |
M206K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,038 (GRCm39) |
A592S |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Atp5mf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01121:Atp5mf
|
APN |
5 |
145,121,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02572:Atp5mf
|
APN |
5 |
145,124,047 (GRCm39) |
splice site |
probably benign |
|
|
R0130:Atp5mf
|
UTSW |
5 |
145,124,992 (GRCm39) |
splice site |
probably benign |
|
|
R1974:Atp5mf
|
UTSW |
5 |
145,121,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Atp5mf
|
UTSW |
5 |
145,121,365 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7347:Atp5mf
|
UTSW |
5 |
145,125,295 (GRCm39) |
splice site |
probably null |
|
|
R9113:Atp5mf
|
UTSW |
5 |
145,128,315 (GRCm39) |
missense |
probably benign |
|
|
R9789:Atp5mf
|
UTSW |
5 |
145,120,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation