Incidental Mutation 'R8238:Atp5f1b'
| ID |
637472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp5f1b
|
| Ensembl Gene |
ENSMUSG00000025393 |
| Gene Name |
ATP synthase F1 subunit beta |
| Synonyms |
Atp5b |
| MMRRC Submission |
067670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127919176-127926257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127921019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 182
(I182N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026459]
|
| AlphaFold |
P56480 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026459
AA Change: I182N
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393
AA Change: I182N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
38 |
N/A |
INTRINSIC |
|
Pfam:ATP-synt_ab_N
|
63 |
129 |
2.9e-23 |
PFAM |
|
AAA
|
198 |
382 |
1.5e-6 |
SMART |
|
Pfam:ATP-synt_ab_C
|
418 |
527 |
2.5e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| 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. 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 beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,103,993 (GRCm39) |
Y551H |
probably damaging |
Het |
| Ak1 |
T |
A |
2: 32,523,681 (GRCm39) |
V198D |
probably damaging |
Het |
| Alx1 |
C |
T |
10: 102,858,076 (GRCm39) |
D208N |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,966,975 (GRCm39) |
E641G |
probably damaging |
Het |
| Cabp5 |
T |
A |
7: 13,139,377 (GRCm39) |
M134K |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,221,764 (GRCm39) |
I227N |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,235,668 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,988,842 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
T |
2: 20,811,342 (GRCm39) |
R1510* |
probably null |
Het |
| Fgr |
C |
T |
4: 132,724,832 (GRCm39) |
A311V |
probably damaging |
Het |
| Glipr1 |
C |
T |
10: 111,829,345 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
A |
G |
2: 103,898,496 (GRCm39) |
F70L |
probably benign |
Het |
| Gm14412 |
A |
T |
2: 177,007,111 (GRCm39) |
H261Q |
unknown |
Het |
| Hey2 |
T |
A |
10: 30,716,659 (GRCm39) |
M35L |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,857 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ipo5 |
A |
T |
14: 121,172,652 (GRCm39) |
K570M |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,666,912 (GRCm39) |
H404Q |
probably benign |
Het |
| Kif5b |
T |
A |
18: 6,227,619 (GRCm39) |
Q86L |
probably damaging |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,668 (GRCm39) |
I360N |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,003,634 (GRCm39) |
V29E |
probably damaging |
Het |
| Ncstn |
G |
T |
1: 171,900,043 (GRCm39) |
A277E |
probably damaging |
Het |
| Nsun3 |
A |
G |
16: 62,591,076 (GRCm39) |
V189A |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,150,642 (GRCm39) |
D77N |
probably damaging |
Het |
| Or13a27 |
A |
C |
7: 139,925,803 (GRCm39) |
L33W |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,827 (GRCm39) |
T52A |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,366 (GRCm39) |
D138G |
probably damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,557,066 (GRCm39) |
H434P |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,406,568 (GRCm39) |
I121T |
probably benign |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc7a14 |
C |
A |
3: 31,281,300 (GRCm39) |
V337L |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,733,173 (GRCm39) |
G206E |
probably damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,640 (GRCm39) |
T92A |
probably benign |
Het |
| Vmn2r36 |
T |
G |
7: 7,892,015 (GRCm39) |
H431P |
probably benign |
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps11 |
T |
C |
9: 44,264,057 (GRCm39) |
T759A |
probably benign |
Het |
| Xdh |
G |
T |
17: 74,193,412 (GRCm39) |
Q1295K |
probably benign |
Het |
|
| Other mutations in Atp5f1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02316:Atp5f1b
|
APN |
10 |
127,920,178 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02819:Atp5f1b
|
APN |
10 |
127,919,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0308:Atp5f1b
|
UTSW |
10 |
127,921,908 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0496:Atp5f1b
|
UTSW |
10 |
127,922,043 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1052:Atp5f1b
|
UTSW |
10 |
127,925,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Atp5f1b
|
UTSW |
10 |
127,919,167 (GRCm39) |
start gained |
probably benign |
|
|
R1764:Atp5f1b
|
UTSW |
10 |
127,919,949 (GRCm39) |
splice site |
probably benign |
|
|
R4968:Atp5f1b
|
UTSW |
10 |
127,919,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Atp5f1b
|
UTSW |
10 |
127,919,854 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5807:Atp5f1b
|
UTSW |
10 |
127,924,431 (GRCm39) |
unclassified |
probably benign |
|
|
R7296:Atp5f1b
|
UTSW |
10 |
127,921,391 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8008:Atp5f1b
|
UTSW |
10 |
127,919,277 (GRCm39) |
missense |
unknown |
|
|
R8711:Atp5f1b
|
UTSW |
10 |
127,921,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Atp5f1b
|
UTSW |
10 |
127,924,850 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9039:Atp5f1b
|
UTSW |
10 |
127,919,767 (GRCm39) |
missense |
probably benign |
|
|
X0057:Atp5f1b
|
UTSW |
10 |
127,925,983 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGATGATGTTCTGTGACAGC -3'
(R):5'- GCACCTCCAAAGAGTCCTAG -3'
Sequencing Primer
(F):5'- GAGATGATGTTCTGTGACAGCTTAAC -3'
(R):5'- GGCATCTGGCTTCAGCAAATTCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation