Incidental Mutation 'R1428:Atad3a'
| ID |
161388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad3a
|
| Ensembl Gene |
ENSMUSG00000029036 |
| Gene Name |
ATPase family, AAA domain containing 3A |
| Synonyms |
Tob3, 2400004H09Rik |
| MMRRC Submission |
039484-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155825098-155845550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155840139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 121
(Q121H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030903]
[ENSMUST00000176043]
[ENSMUST00000184913]
|
| AlphaFold |
Q925I1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030903
AA Change: Q146H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: Q146H
| 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: ENSMUST00000134317
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175679
AA Change: Q21H
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176043
AA Change: Q146H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135405
Gene: ENSMUSG00000029036
AA Change: Q146H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3523
|
20 |
193 |
5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184131
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184913
AA Change: Q121H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138808
Gene: ENSMUSG00000029036
AA Change: Q121H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3523
|
1 |
125 |
9.9e-43 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| Abl1 |
G |
T |
2: 31,691,822 (GRCm39) |
A1114S |
probably damaging |
Het |
| Acbd5 |
T |
C |
2: 22,989,733 (GRCm39) |
V452A |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,756,910 (GRCm39) |
D225G |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,913,603 (GRCm39) |
T79S |
probably benign |
Het |
| Bptf |
T |
A |
11: 106,963,873 (GRCm39) |
I1711F |
probably damaging |
Het |
| C2cd4c |
A |
T |
10: 79,448,064 (GRCm39) |
I361N |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,199,221 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
C |
T |
13: 74,505,034 (GRCm39) |
T194I |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,465 (GRCm39) |
K152E |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,181,204 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,248,853 (GRCm39) |
Y1801N |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,851,074 (GRCm39) |
N1599S |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,228,548 (GRCm39) |
V59A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,183,117 (GRCm39) |
K484E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,411,193 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,005,642 (GRCm39) |
S711P |
probably damaging |
Het |
| Espl1 |
A |
T |
15: 102,214,120 (GRCm39) |
Q649L |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,374,638 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,186,913 (GRCm39) |
Y1311F |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,687 (GRCm39) |
H675L |
possibly damaging |
Het |
| Gins4 |
T |
C |
8: 23,717,144 (GRCm39) |
Y208C |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 37,910,937 (GRCm39) |
V17A |
probably benign |
Het |
| Gykl1 |
A |
T |
18: 52,827,833 (GRCm39) |
K347I |
probably benign |
Het |
| Helz |
T |
A |
11: 107,483,666 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,772 (GRCm39) |
T696I |
possibly damaging |
Het |
| Ifi27l2a |
G |
T |
12: 103,409,093 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,944,987 (GRCm39) |
|
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,620,669 (GRCm39) |
|
probably benign |
Het |
| Mmp15 |
C |
G |
8: 96,096,190 (GRCm39) |
P327R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,320,074 (GRCm39) |
T1003S |
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,819,239 (GRCm39) |
D393G |
probably benign |
Het |
| Olfm4 |
T |
A |
14: 80,258,843 (GRCm39) |
Y331N |
probably damaging |
Het |
| Or10a49 |
T |
A |
7: 108,468,167 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or4c12b |
G |
C |
2: 89,646,725 (GRCm39) |
L12F |
probably damaging |
Het |
| P2rx3 |
G |
C |
2: 84,855,294 (GRCm39) |
T54R |
possibly damaging |
Het |
| Pacsin1 |
C |
T |
17: 27,924,937 (GRCm39) |
T217I |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,155 (GRCm39) |
|
probably null |
Het |
| Pknox1 |
T |
C |
17: 31,811,066 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,422,256 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,980,101 (GRCm39) |
A340T |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,485,983 (GRCm39) |
W205R |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,530,923 (GRCm39) |
T936M |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,793 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
A |
G |
2: 148,238,279 (GRCm39) |
S297G |
probably benign |
Het |
| Timm8a1 |
C |
T |
X: 133,438,872 (GRCm39) |
E93K |
probably benign |
Het |
| Uck1 |
A |
C |
2: 32,148,367 (GRCm39) |
Y150D |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,805,300 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atad3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Atad3a
|
APN |
4 |
155,830,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTCTGCCTTTAGGTGCATGTC -3'
(R):5'- AGCGAACAGATCCGTGTGCAAG -3'
Sequencing Primer
(F):5'- TCTGGGCACATCCATCGTG -3'
(R):5'- ATGGACTCCTTGGTACAGAGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation