Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Atad3a'

299026

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

Genbank: NM_179203; MGI:1919214

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

155740641-155761093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155753584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 244 (D244N)

Ref Sequence

ENSEMBL: ENSMUSP00000030903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030903] [ENSMUST00000176043] [ENSMUST00000184913]

AlphaFold

Q925I1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030903
AA Change: D244N

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: D244N

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: D119N

Predicted Effect

probably benign
Transcript: ENSMUST00000176043

SMART Domains

Protein: ENSMUSP00000135405
Gene: ENSMUSG00000029036

Domain	Start	End	E-Value	Type
Pfam:DUF3523	20	193	5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177066

Predicted Effect

probably benign
Transcript: ENSMUST00000184131

Predicted Effect

probably benign
Transcript: ENSMUST00000184913

SMART Domains

Protein: ENSMUSP00000138808
Gene: ENSMUSG00000029036

Domain	Start	End	E-Value	Type
Pfam:DUF3523	1	125	9.9e-43	PFAM

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,725,171	N92S	probably damaging	Het
Abca2	T	C	2: 25,433,317	L99P	possibly damaging	Het
Adam19	T	A	11: 46,131,721	Y500*	probably null	Het
Amy1	A	T	3: 113,565,073		probably benign	Het
Aox3	T	C	1: 58,158,367	I624T	probably damaging	Het
Atp5j2	C	A	5: 145,187,237		probably benign	Het
Bbof1	G	A	12: 84,428,365	D443N	probably damaging	Het
BC017158	A	T	7: 128,290,580		probably benign	Het
Bod1l	G	A	5: 41,821,230	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,066,579		probably benign	Het
Cgref1	A	G	5: 30,933,567	V301A	probably benign	Het
Coa6	T	C	8: 126,422,741	Y19H	probably damaging	Het
Cop1	T	A	1: 159,308,878		probably benign	Het
Dmrta1	T	C	4: 89,691,558	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,184,629	S484A	probably benign	Het
Dspp	A	T	5: 104,177,069	S433C	probably damaging	Het
Efcab5	G	A	11: 77,137,888	R206*	probably null	Het
Epop	A	T	11: 97,628,201	S361T	probably benign	Het
Fat3	T	A	9: 15,960,506	T3530S	probably benign	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,992,003	S6027A	probably benign	Het
Galnt14	A	G	17: 73,535,267	L209P	probably damaging	Het
Hif3a	C	A	7: 17,050,588	R25L	probably null	Het
Hsf5	A	G	11: 87,631,695		probably benign	Het
Il22ra2	A	T	10: 19,626,744	T104S	probably benign	Het
Klrk1	A	G	6: 129,615,353	S138P	probably damaging	Het
Lrp5	G	T	19: 3,614,283	Q815K	probably benign	Het
Morn4	A	G	19: 42,076,447		probably benign	Het
Nlrp14	T	A	7: 107,182,722	Y375*	probably null	Het
Nsd1	T	A	13: 55,296,130	M1714K	probably damaging	Het
Olfr171	T	A	16: 19,625,098	M1L	probably benign	Het
Olfr259	G	A	2: 87,108,366	T7I	possibly damaging	Het
Olfr806	T	A	10: 129,738,866	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,851,216	A877T	probably benign	Het
Pcsk2	G	A	2: 143,690,342	A137T	probably damaging	Het
Piezo1	A	G	8: 122,485,305	V2054A	probably benign	Het
Rad52	A	G	6: 119,915,227		probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sbno1	A	G	5: 124,381,677		probably benign	Het
Scrn1	C	T	6: 54,512,201	D312N	probably benign	Het
Sin3b	A	G	8: 72,744,481	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,664,446	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,926,296	M151V	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stra8	G	A	6: 34,939,159	D280N	probably damaging	Het
Thbs2	A	T	17: 14,677,013	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,531,889	T27A	probably benign	Het
Tmem38a	T	C	8: 72,579,974	F99S	probably damaging	Het
Tmod3	T	C	9: 75,509,385	T222A	probably benign	Het
Tnn	A	G	1: 160,086,107	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,849,159	I829N	probably damaging	Het
Trpm5	A	T	7: 143,087,876		probably benign	Het
Ttn	A	G	2: 76,767,871	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,203,058	D81G	probably damaging	Het
Zdhhc20	A	G	14: 57,890,107	V25A	probably benign	Het

Other mutations in Atad3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Atad3a	APN	4	155746078	missense	probably damaging	0.98
IGL01982:Atad3a	APN	4	155753927	missense	possibly damaging	0.94
IGL02059:Atad3a	APN	4	155754750	splice site	probably benign
IGL03086:Atad3a	APN	4	155748670	critical splice donor site	probably null
IGL03409:Atad3a	APN	4	155747350	missense	probably damaging	0.99
E2594:Atad3a	UTSW	4	155750933	unclassified	probably benign
FR4976:Atad3a	UTSW	4	155753939	missense	probably damaging	0.98
PIT4618001:Atad3a	UTSW	4	155750138	missense	probably benign	0.41
R0233:Atad3a	UTSW	4	155746067	missense	probably damaging	0.99
R0233:Atad3a	UTSW	4	155746067	missense	probably damaging	0.99
R0601:Atad3a	UTSW	4	155747407	missense	probably damaging	1.00
R0799:Atad3a	UTSW	4	155747470	missense	probably damaging	1.00
R1428:Atad3a	UTSW	4	155755682	missense	probably damaging	1.00
R1597:Atad3a	UTSW	4	155751435	critical splice donor site	probably null
R2188:Atad3a	UTSW	4	155751519	missense	probably damaging	0.99
R4126:Atad3a	UTSW	4	155754061	splice site	probably benign
R4564:Atad3a	UTSW	4	155747309	splice site	probably null
R5334:Atad3a	UTSW	4	155755689	missense	probably damaging	1.00
R6354:Atad3a	UTSW	4	155753945	missense	possibly damaging	0.58
R6481:Atad3a	UTSW	4	155753641	splice site	probably null
R7220:Atad3a	UTSW	4	155754041	missense	probably benign	0.02
R7689:Atad3a	UTSW	4	155756153	missense	probably damaging	0.98
R7949:Atad3a	UTSW	4	155748695	missense	possibly damaging	0.53
R8127:Atad3a	UTSW	4	155753939	missense	probably damaging	0.96
R8783:Atad3a	UTSW	4	155755695	missense	probably damaging	1.00
R8956:Atad3a	UTSW	4	155753597	missense	probably damaging	0.96
R9019:Atad3a	UTSW	4	155753595	missense	possibly damaging	0.91
R9636:Atad3a	UTSW	4	155749159	missense	possibly damaging	0.95
R9706:Atad3a	UTSW	4	155750472	critical splice donor site	probably null

Posted On

2015-04-16