Incidental Mutation 'IGL02513:Dmac2l'
| ID |
296648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dmac2l
|
| Ensembl Gene |
ENSMUSG00000054894 |
| Gene Name |
distal membrane arm assembly component 2 like |
| Synonyms |
Atp5s, 1110015E18Rik, facyor B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02513
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69771724-69791434 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69787819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 85
(Y85F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021372]
[ENSMUST00000220460]
[ENSMUST00000220539]
[ENSMUST00000220916]
[ENSMUST00000222950]
|
| AlphaFold |
Q9CRA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021372
AA Change: Y85F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
AA Change: Y85F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3E4G|A
|
26 |
200 |
1e-102 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220460
AA Change: Y85F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220916
AA Change: Y85F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222950
|
| 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, utilizing 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. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
| Ccdc9 |
A |
G |
7: 16,018,434 (GRCm39) |
|
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,899,013 (GRCm39) |
F217S |
probably benign |
Het |
| Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
| Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,360 (GRCm39) |
D484E |
possibly damaging |
Het |
| Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
| Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,193 (GRCm39) |
T486I |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,260,289 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,260 (GRCm39) |
S594R |
possibly damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
| Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
| Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
| Other mutations in Dmac2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0344:Dmac2l
|
UTSW |
12 |
69,787,663 (GRCm39) |
unclassified |
probably benign |
|
|
R0848:Dmac2l
|
UTSW |
12 |
69,788,584 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1236:Dmac2l
|
UTSW |
12 |
69,788,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1539:Dmac2l
|
UTSW |
12 |
69,787,845 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2143:Dmac2l
|
UTSW |
12 |
69,787,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2144:Dmac2l
|
UTSW |
12 |
69,787,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2145:Dmac2l
|
UTSW |
12 |
69,787,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5957:Dmac2l
|
UTSW |
12 |
69,790,558 (GRCm39) |
missense |
probably benign |
|
|
R7157:Dmac2l
|
UTSW |
12 |
69,788,562 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7257:Dmac2l
|
UTSW |
12 |
69,788,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Dmac2l
|
UTSW |
12 |
69,787,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Dmac2l
|
UTSW |
12 |
69,788,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dmac2l
|
UTSW |
12 |
69,787,736 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation