Incidental Mutation 'IGL01620:Atad3a'
| ID |
92508 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atad3a
|
| Ensembl Gene |
ENSMUSG00000029036 |
| Gene Name |
ATPase family, AAA domain containing 3A |
| Synonyms |
Tob3, 2400004H09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155825098-155845550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155830535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 521
(T521K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030903]
|
| AlphaFold |
Q925I1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030903
AA Change: T521K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: T521K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3523
|
26 |
285 |
9.5e-113 |
PFAM |
|
AAA
|
343 |
482 |
4.43e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126725
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184131
|
| 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 ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a gene trapped allele die around E7.5 exhibiting growth retardation, failure to gastrulate, and impaired development of the trophoblast lineage immediately after implantation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted, other(2) Gene trapped(6) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,385 (GRCm39) |
V277D |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,218 (GRCm39) |
V325D |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,757 (GRCm39) |
|
probably null |
Het |
| Ano9 |
A |
G |
7: 140,690,352 (GRCm39) |
L94P |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,504,948 (GRCm39) |
K126E |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,220,713 (GRCm39) |
|
probably benign |
Het |
| Btbd17 |
T |
C |
11: 114,686,599 (GRCm39) |
T26A |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,587,461 (GRCm39) |
S314L |
probably benign |
Het |
| Ccl8 |
A |
T |
11: 82,007,435 (GRCm39) |
Q90L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,257 (GRCm39) |
V355A |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,656,978 (GRCm39) |
I555T |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,815,159 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,758,144 (GRCm39) |
I483T |
probably damaging |
Het |
| Eloc |
T |
A |
1: 16,713,502 (GRCm39) |
|
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,295,119 (GRCm39) |
L177H |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,275,831 (GRCm39) |
K352I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,942,502 (GRCm39) |
E76G |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,140,763 (GRCm39) |
E203V |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,529 (GRCm39) |
K266R |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,476,901 (GRCm39) |
K154M |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,839,384 (GRCm39) |
D359G |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,018,296 (GRCm39) |
K53R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,232,772 (GRCm39) |
H168Q |
probably damaging |
Het |
| Lpcat2b |
T |
C |
5: 107,581,759 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,225 (GRCm39) |
N290K |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,873 (GRCm39) |
F301L |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,364,195 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,043,374 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,550 (GRCm39) |
C179S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,220 (GRCm39) |
V264D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,237,844 (GRCm39) |
H1374Q |
possibly damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,822,728 (GRCm39) |
A658V |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,307,726 (GRCm39) |
F14I |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 137,996,148 (GRCm39) |
E904K |
possibly damaging |
Het |
| Rab11fip4 |
G |
T |
11: 79,582,705 (GRCm39) |
D591Y |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,523 (GRCm39) |
T29A |
probably benign |
Het |
| Rgs19 |
A |
G |
2: 181,331,381 (GRCm39) |
V84A |
possibly damaging |
Het |
| Shisa6 |
T |
G |
11: 66,108,705 (GRCm39) |
M391L |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,469,263 (GRCm39) |
G1254D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,895,059 (GRCm39) |
Y358* |
probably null |
Het |
| Taf3 |
G |
T |
2: 9,957,472 (GRCm39) |
R232S |
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Trav13n-4 |
T |
C |
14: 53,601,473 (GRCm39) |
S81P |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,121,333 (GRCm39) |
P321T |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,039 (GRCm39) |
G309* |
probably null |
Het |
| Vps13d |
C |
A |
4: 144,821,437 (GRCm39) |
G2979V |
possibly damaging |
Het |
|
| Other mutations in Atad3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Atad3a
|
APN |
4 |
155,838,384 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02059:Atad3a
|
APN |
4 |
155,839,207 (GRCm39) |
splice site |
probably benign |
|
|
IGL02572:Atad3a
|
APN |
4 |
155,838,041 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03086:Atad3a
|
APN |
4 |
155,833,127 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03409:Atad3a
|
APN |
4 |
155,831,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
E2594:Atad3a
|
UTSW |
4 |
155,835,390 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Atad3a
|
UTSW |
4 |
155,838,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4618001:Atad3a
|
UTSW |
4 |
155,834,595 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0233:Atad3a
|
UTSW |
4 |
155,830,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0233:Atad3a
|
UTSW |
4 |
155,830,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0601:Atad3a
|
UTSW |
4 |
155,831,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Atad3a
|
UTSW |
4 |
155,831,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Atad3a
|
UTSW |
4 |
155,840,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Atad3a
|
UTSW |
4 |
155,835,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2188:Atad3a
|
UTSW |
4 |
155,835,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4126:Atad3a
|
UTSW |
4 |
155,838,518 (GRCm39) |
splice site |
probably benign |
|
|
R4564:Atad3a
|
UTSW |
4 |
155,831,766 (GRCm39) |
splice site |
probably null |
|
|
R5334:Atad3a
|
UTSW |
4 |
155,840,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Atad3a
|
UTSW |
4 |
155,838,402 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6481:Atad3a
|
UTSW |
4 |
155,838,098 (GRCm39) |
splice site |
probably null |
|
|
R7220:Atad3a
|
UTSW |
4 |
155,838,498 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7689:Atad3a
|
UTSW |
4 |
155,840,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7949:Atad3a
|
UTSW |
4 |
155,833,152 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8127:Atad3a
|
UTSW |
4 |
155,838,396 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8783:Atad3a
|
UTSW |
4 |
155,840,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Atad3a
|
UTSW |
4 |
155,838,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9019:Atad3a
|
UTSW |
4 |
155,838,052 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9636:Atad3a
|
UTSW |
4 |
155,833,616 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9706:Atad3a
|
UTSW |
4 |
155,834,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation