Incidental Mutation 'R1052:Atp5f1b'
| ID |
94070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp5f1b
|
| Ensembl Gene |
ENSMUSG00000025393 |
| Gene Name |
ATP synthase F1 subunit beta |
| Synonyms |
Atp5b |
| MMRRC Submission |
039142-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1052 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127919176-127926257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127925921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 508
(Y508C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026459]
[ENSMUST00000045621]
[ENSMUST00000219072]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000220049]
|
| AlphaFold |
P56480 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026459
AA Change: Y508C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393
AA Change: Y508C
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045621
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
MBD
|
539 |
614 |
3.87e-35 |
SMART |
|
AT_hook
|
639 |
651 |
2.38e0 |
SMART |
|
AT_hook
|
660 |
672 |
1.65e0 |
SMART |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
coiled coil region
|
736 |
776 |
N/A |
INTRINSIC |
|
DDT
|
837 |
902 |
3.75e-18 |
SMART |
|
Pfam:WHIM1
|
939 |
988 |
4.8e-8 |
PFAM |
|
low complexity region
|
1001 |
1013 |
N/A |
INTRINSIC |
|
AT_hook
|
1174 |
1186 |
6.23e1 |
SMART |
|
AT_hook
|
1388 |
1400 |
4.21e0 |
SMART |
|
Pfam:WHIM3
|
1423 |
1464 |
1e-9 |
PFAM |
|
PHD
|
1662 |
1708 |
1.47e-11 |
SMART |
|
low complexity region
|
1741 |
1753 |
N/A |
INTRINSIC |
|
BROMO
|
1773 |
1881 |
7.71e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170054
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
MBD
|
540 |
615 |
3.87e-35 |
SMART |
|
AT_hook
|
640 |
652 |
2.38e0 |
SMART |
|
AT_hook
|
661 |
673 |
1.65e0 |
SMART |
|
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
coiled coil region
|
737 |
777 |
N/A |
INTRINSIC |
|
DDT
|
838 |
903 |
3.75e-18 |
SMART |
|
Pfam:WHIM1
|
940 |
989 |
4.8e-8 |
PFAM |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
AT_hook
|
1175 |
1187 |
6.23e1 |
SMART |
|
AT_hook
|
1389 |
1401 |
4.21e0 |
SMART |
|
Pfam:WHIM3
|
1424 |
1462 |
5.5e-19 |
PFAM |
|
PHD
|
1663 |
1709 |
1.47e-11 |
SMART |
|
low complexity region
|
1742 |
1754 |
N/A |
INTRINSIC |
|
BROMO
|
1774 |
1882 |
7.71e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220049
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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. 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,535,417 (GRCm39) |
Y528F |
possibly damaging |
Het |
| Acad10 |
G |
A |
5: 121,787,604 (GRCm39) |
T115I |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,018,092 (GRCm39) |
F385L |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,357 (GRCm39) |
N162D |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,757,570 (GRCm39) |
P521T |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,380 (GRCm39) |
L134Q |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,553,067 (GRCm39) |
M287I |
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,360 (GRCm39) |
K395E |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,277,294 (GRCm39) |
Y669C |
probably damaging |
Het |
| Casq2 |
T |
C |
3: 102,051,550 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
A |
T |
2: 154,202,519 (GRCm39) |
I237N |
possibly damaging |
Het |
| Cerk |
G |
C |
15: 86,033,565 (GRCm39) |
S286C |
possibly damaging |
Het |
| Cir1 |
A |
C |
2: 73,117,987 (GRCm39) |
L186R |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,936,781 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,621 (GRCm39) |
I246K |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,348 (GRCm39) |
F328S |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,355,365 (GRCm39) |
V110D |
probably benign |
Het |
| Gm6729 |
T |
A |
10: 86,376,799 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,604,246 (GRCm39) |
F246L |
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,255 (GRCm39) |
L248H |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,266 (GRCm39) |
T163A |
probably benign |
Het |
| Hspa5 |
A |
G |
2: 34,665,110 (GRCm39) |
T424A |
probably damaging |
Het |
| Itgb1 |
T |
G |
8: 129,439,786 (GRCm39) |
D158E |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,853 (GRCm39) |
V1637A |
probably benign |
Het |
| Kl |
G |
T |
5: 150,905,985 (GRCm39) |
V452F |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,369,045 (GRCm39) |
N416S |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,968,241 (GRCm39) |
H1461L |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,818,814 (GRCm39) |
T1180A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,996,527 (GRCm39) |
Y145H |
probably damaging |
Het |
| Mlxipl |
T |
A |
5: 135,142,564 (GRCm39) |
I126N |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,620,181 (GRCm39) |
N1577K |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,332,897 (GRCm39) |
V87A |
possibly damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,915 (GRCm39) |
F31L |
probably benign |
Het |
| Or6p1 |
A |
T |
1: 174,258,701 (GRCm39) |
K236* |
probably null |
Het |
| Pask |
A |
T |
1: 93,258,549 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,899 (GRCm39) |
Y563C |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,349,837 (GRCm39) |
I49N |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,334 (GRCm39) |
V292E |
possibly damaging |
Het |
| Pramel23 |
T |
C |
4: 143,423,477 (GRCm39) |
I437M |
possibly damaging |
Het |
| Prrt4 |
G |
T |
6: 29,169,813 (GRCm39) |
Q880K |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,628,858 (GRCm39) |
D24G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,093 (GRCm39) |
D363E |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,001,574 (GRCm39) |
Q1676P |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,795,683 (GRCm39) |
R1069L |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc2a13 |
A |
G |
15: 91,296,363 (GRCm39) |
V317A |
probably damaging |
Het |
| Slc35b4 |
A |
T |
6: 34,138,619 (GRCm39) |
F197I |
probably damaging |
Het |
| Tchhl1 |
G |
A |
3: 93,377,520 (GRCm39) |
V75I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,771 (GRCm39) |
S3521P |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
Het |
| Zfp874a |
T |
G |
13: 67,590,539 (GRCm39) |
I382L |
possibly damaging |
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 |
|
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 |
|
|
R8238:Atp5f1b
|
UTSW |
10 |
127,921,019 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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'- TCCCAGAACAGTCAGTGGAGGTTAG -3'
(R):5'- TGTGGCCTGCATGGAAGGAAAC -3'
Sequencing Primer
(F):5'- GCAGTAGTCAGTGTTAAACCAC -3'
(R):5'- CTGCATGGAAGGAAACCTGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation