Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Atad3a'

58876

Institutional Source

Beutler Lab

Gene Symbol

Atad3a

Ensembl Gene

ENSMUSG00000029036

Gene Name

ATPase family, AAA domain containing 3A

Synonyms

Tob3, 2400004H09Rik

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0233 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

155825098-155845550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155830524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 525 (S525T)

Ref Sequence

ENSEMBL: ENSMUSP00000030903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030903]

AlphaFold

Q925I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030903
AA Change: S525T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: S525T

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

Meta Mutation Damage Score

0.8448

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,966,606 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
B4galnt1	T	C	10: 127,006,780 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Copa	T	C	1: 171,915,234 (GRCm39)		probably null	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,216 (GRCm39)	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fam13b	T	A	18: 34,581,137 (GRCm39)	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Foxp2	T	C	6: 15,409,752 (GRCm39)	S451P	probably damaging	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm9920	A	T	15: 54,975,857 (GRCm39)		probably benign	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,942,473 (GRCm39)	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,532,372 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,828,100 (GRCm39)		probably null	Het
Kpna2	T	C	11: 106,883,457 (GRCm39)	S111G	probably benign	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Macf1	G	A	4: 123,343,920 (GRCm39)		probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Parl	G	A	16: 20,106,657 (GRCm39)	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Prg4	T	C	1: 150,329,298 (GRCm39)		probably benign	Het
Prkab1	A	G	5: 116,159,711 (GRCm39)		probably benign	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Sulf2	T	C	2: 165,927,589 (GRCm39)		probably benign	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,248,398 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTCCCATGAGTGACTCATTAGCC -3'
(R):5'- AGAGTATAGCTCCATCTGCCAACCC -3'

Sequencing Primer
(F):5'- GAGTGACTCATTAGCCCTCAGTAG -3'
(R):5'- GATATCTGGCAGAGTTTACCTCATC -3'

Posted On

2013-07-11