Incidental Mutation 'R1236:Dmac2l'
| ID |
152439 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R1236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69771724-69791434 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 69788592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021372]
[ENSMUST00000220460]
[ENSMUST00000220539]
[ENSMUST00000220916]
[ENSMUST00000222950]
|
| AlphaFold |
Q9CRA7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021372
|
| SMART Domains |
Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3E4G|A
|
26 |
200 |
1e-102 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220460
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220539
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222950
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
| Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
| Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
| Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
| Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
| Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
| Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
probably benign |
Het |
|
| Other mutations in Dmac2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02513:Dmac2l
|
APN |
12 |
69,787,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0344:Dmac2l
|
UTSW |
12 |
69,787,663 (GRCm39) |
unclassified |
probably benign |
|
|
R0848:Dmac2l
|
UTSW |
12 |
69,788,584 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATAGGACAGTCAGAGACAGGACAG -3'
(R):5'- CAAGTGTTAcaggtgaaaatgaggcca -3'
Sequencing Primer
(F):5'- CAGTCCTGTCCTAAGTGAACTGAG -3'
(R):5'- ccaggaagcccagcaac -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation