Mutagenetix > Incidental Mutation

Incidental Mutation 'R1597:Atad3a'

175859

Institutional Source

Beutler Lab

Gene Symbol

Atad3a

Ensembl Gene

ENSMUSG00000029036

Gene Name

ATPase family, AAA domain containing 3A

Synonyms

Tob3, 2400004H09Rik

MMRRC Submission

039634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155825098-155845550 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 155835892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030903 (fasta)

Gene Model

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

AlphaFold

Q925I1

Predicted Effect

probably null
Transcript: ENSMUST00000030903

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036

Domain	Start	End	E-Value	Type
Pfam:DUF3523	26	285	9.5e-113	PFAM
AAA	343	482	4.43e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000030903

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036

Domain	Start	End	E-Value	Type
Pfam:DUF3523	26	285	9.5e-113	PFAM
AAA	343	482	4.43e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000030903

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036

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

probably benign
Transcript: ENSMUST00000175679

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

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	T	19: 34,229,983 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,902,881 (GRCm39)	N748S	probably benign	Het
Aox1	T	A	1: 58,086,326 (GRCm39)	I77N	probably damaging	Het
Ap1s1	A	T	5: 137,072,095 (GRCm39)	M20K	probably damaging	Het
Atp1b1	G	T	1: 164,265,889 (GRCm39)	R291S	probably damaging	Het
Birc7	T	C	2: 180,570,974 (GRCm39)	V12A	possibly damaging	Het
Btnl2	T	C	17: 34,582,211 (GRCm39)	V259A	probably damaging	Het
Cdh11	A	T	8: 103,377,343 (GRCm39)	N434K	probably benign	Het
Cel	G	T	2: 28,450,479 (GRCm39)		probably benign	Het
Col10a1	A	G	10: 34,271,074 (GRCm39)	K349E	probably damaging	Het
Ddhd2	A	G	8: 26,239,768 (GRCm39)	V315A	probably benign	Het
Dnah17	C	A	11: 117,994,324 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,595,474 (GRCm39)	T441A	probably benign	Het
Ermap	A	T	4: 119,041,152 (GRCm39)	I286N	probably damaging	Het
Fbxl17	T	C	17: 63,794,813 (GRCm39)	K423R	probably damaging	Het
Frem2	T	C	3: 53,561,940 (GRCm39)	T856A	probably benign	Het
Gas6	T	C	8: 13,543,901 (GRCm39)	E64G	probably damaging	Het
Gzma	T	A	13: 113,232,331 (GRCm39)	N190I	probably damaging	Het
Ifngr1	C	T	10: 19,485,090 (GRCm39)	T363M	probably damaging	Het
Itga7	A	G	10: 128,782,732 (GRCm39)	T690A	probably benign	Het
Kif15	A	G	9: 122,823,074 (GRCm39)	E485G	probably benign	Het
Kif18a	A	G	2: 109,123,336 (GRCm39)	I203M	probably damaging	Het
Klhl1	A	T	14: 96,438,647 (GRCm39)		probably null	Het
Lrch3	C	T	16: 32,770,781 (GRCm39)	Q128*	probably null	Het
Lrriq4	C	G	3: 30,705,037 (GRCm39)	P355R	probably damaging	Het
Mcm10	A	T	2: 5,003,563 (GRCm39)	H551Q	probably damaging	Het
Mcm3ap	T	C	10: 76,319,060 (GRCm39)	F763L	probably damaging	Het
Mdc1	T	A	17: 36,156,758 (GRCm39)	V55E	probably damaging	Het
Me2	A	T	18: 73,931,016 (GRCm39)	N92K	probably damaging	Het
Mtss1	A	G	15: 58,815,560 (GRCm39)	S667P	probably damaging	Het
Mup5	A	T	4: 61,753,317 (GRCm39)	Y15N	possibly damaging	Het
Mx1	T	A	16: 97,256,329 (GRCm39)	M197L	probably damaging	Het
N4bp2	C	T	5: 65,964,483 (GRCm39)	T844I	probably benign	Het
Nlrc3	T	A	16: 3,781,859 (GRCm39)	R517W	probably damaging	Het
Nos3	A	T	5: 24,573,995 (GRCm39)	I227F	probably damaging	Het
Or52a5	A	G	7: 103,427,267 (GRCm39)	F95S	probably benign	Het
Pabpc2	A	G	18: 39,906,953 (GRCm39)	N73D	probably damaging	Het
Pcdhb18	A	G	18: 37,624,820 (GRCm39)	R717G	probably benign	Het
Pcsk5	T	A	19: 17,413,964 (GRCm39)	M1702L	probably benign	Het
Plxna2	A	C	1: 194,431,614 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,630,755 (GRCm39)	M1221T	possibly damaging	Het
Polr2b	A	G	5: 77,473,948 (GRCm39)	D384G	probably damaging	Het
Ppl	T	A	16: 4,925,438 (GRCm39)	H67L	probably benign	Het
Psmd5	A	G	2: 34,757,035 (GRCm39)	L63S	probably damaging	Het
Psme1	A	G	14: 55,818,222 (GRCm39)	T150A	probably damaging	Het
Rapgef5	C	T	12: 117,621,940 (GRCm39)	R33C	probably damaging	Het
Rela	G	A	19: 5,695,359 (GRCm39)	R295H	probably damaging	Het
Rpe65	T	A	3: 159,320,421 (GRCm39)	V326E	probably damaging	Het
Scn5a	C	A	9: 119,391,563 (GRCm39)	R43L	probably damaging	Het
Skida1	T	C	2: 18,051,143 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,283,587 (GRCm39)	A469T	probably benign	Het
Spaca7	G	T	8: 12,630,991 (GRCm39)	E48*	probably null	Het
Syn3	G	T	10: 85,970,908 (GRCm39)	T238K	probably benign	Het
Taok1	A	G	11: 77,470,626 (GRCm39)	S60P	probably benign	Het
Tecpr1	A	G	5: 144,151,128 (GRCm39)	I256T	probably benign	Het
Tenm4	T	A	7: 96,552,196 (GRCm39)		probably null	Het
Tex15	A	G	8: 34,061,511 (GRCm39)	T588A	probably damaging	Het
Tgfbi	T	A	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem62	G	A	2: 120,814,843 (GRCm39)	A169T	probably benign	Het
Tnc	A	G	4: 63,924,621 (GRCm39)	S1026P	probably benign	Het
Tnik	T	C	3: 28,658,418 (GRCm39)	S568P	probably damaging	Het
Trpm6	A	T	19: 18,804,888 (GRCm39)	I947F	probably damaging	Het
Ttc27	T	A	17: 75,170,402 (GRCm39)	L832Q	possibly damaging	Het
U2surp	C	T	9: 95,363,793 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,841,064 (GRCm39)	D1009E	possibly damaging	Het
Unc13d	T	C	11: 115,965,262 (GRCm39)	E192G	probably benign	Het
Vmn2r71	T	C	7: 85,273,352 (GRCm39)	V722A	possibly damaging	Het
Zfp386	T	C	12: 116,023,709 (GRCm39)	S476P	probably damaging	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zfyve16	T	A	13: 92,644,755 (GRCm39)	N1149I	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
R1428:Atad3a	UTSW	4	155,840,139 (GRCm39)	missense	probably damaging	1.00
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'- TAAAGCAAACCCAGGGGCAGTC -3'
(R):5'- AGGCATCCAACCAGGGTCAGTATAG -3'

Sequencing Primer
(F):5'- CCCAGGGGCAGTCATATAATTAG -3'
(R):5'- ACCAGGGTCAGTATAGGCCAC -3'

Posted On

2014-04-24