Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Atad3a'

681998

Institutional Source

Beutler Lab

Gene Symbol

Atad3a

Ensembl Gene

ENSMUSG00000029036

Gene Name

ATPase family, AAA domain containing 3A

Synonyms

Tob3, 2400004H09Rik

MMRRC Submission

068792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155825098-155845550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155838054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 239 (F239L)

Ref Sequence

ENSEMBL: ENSMUSP00000030903 (fasta)

Gene Model

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

AlphaFold

Q925I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030903
AA Change: F239L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: F239L

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

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

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 78,750,713 (GRCm39)	T1828I	probably benign	Het
Acsf2	A	G	11: 94,461,211 (GRCm39)	S322P	probably benign	Het
Acss2	T	A	2: 155,391,438 (GRCm39)	I170N	probably damaging	Het
Adam22	G	A	5: 8,142,343 (GRCm39)	T814I	probably damaging	Het
Agrn	G	T	4: 156,250,995 (GRCm39)	D1914E	probably damaging	Het
Akap6	T	C	12: 53,187,127 (GRCm39)	S1514P	probably benign	Het
Akap9	T	C	5: 3,998,805 (GRCm39)	L58P	possibly damaging	Het
Apof	A	G	10: 128,105,712 (GRCm39)	I289V	probably benign	Het
Arhgap35	G	A	7: 16,348,404 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,621,576 (GRCm39)	T482A	probably damaging	Het
Atg9b	T	C	5: 24,591,850 (GRCm39)		probably benign	Het
Atp8b4	T	A	2: 126,167,327 (GRCm39)		probably null	Het
B4galt5	T	C	2: 167,143,260 (GRCm39)	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,749,689 (GRCm39)	L495P	probably damaging	Het
Bcl6	T	C	16: 23,793,716 (GRCm39)	E77G	probably damaging	Het
Bst1	C	A	5: 43,982,716 (GRCm39)	S187*	probably null	Het
Car4	A	G	11: 84,855,377 (GRCm39)	N170S	probably null	Het
Cdk14	A	T	5: 5,277,182 (GRCm39)	V131E	probably damaging	Het
Cdk4	T	A	10: 126,900,546 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,121 (GRCm39)	R99G	probably damaging	Het
Col9a1	G	A	1: 24,276,300 (GRCm39)	G736D	probably damaging	Het
Copa	T	A	1: 171,937,480 (GRCm39)	V477D	possibly damaging	Het
Coq9	G	A	8: 95,576,886 (GRCm39)	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,165 (GRCm39)	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,798,095 (GRCm39)	N721S	probably benign	Het
Dnhd1	A	T	7: 105,341,852 (GRCm39)	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,437,398 (GRCm39)	E247*	probably null	Het
Elovl7	A	T	13: 108,393,320 (GRCm39)	I18F	probably benign	Het
Eml5	T	C	12: 98,818,952 (GRCm39)	K785E	possibly damaging	Het
Faap100	C	A	11: 120,268,185 (GRCm39)	C196F	probably damaging	Het
Fat2	G	A	11: 55,173,729 (GRCm39)	T2328M	probably damaging	Het
Gcnt2	T	A	13: 41,041,204 (GRCm39)	I121N	probably benign	Het
Gm12253	A	G	11: 58,327,605 (GRCm39)	K152E	probably benign	Het
Gm16440	T	A	14: 17,574,527 (GRCm39)	R167*	probably null	Het
Gm43302	T	A	5: 105,425,602 (GRCm39)	I276F	possibly damaging	Het
Gys2	A	G	6: 142,374,267 (GRCm39)	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,772,245 (GRCm39)	N168Y	probably benign	Het
Hpca	C	A	4: 129,012,287 (GRCm39)	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,121,109 (GRCm39)	F13L	probably benign	Het
Il17ra	A	T	6: 120,458,465 (GRCm39)	I539F	probably damaging	Het
Kdm4a	A	G	4: 118,019,013 (GRCm39)	V401A	possibly damaging	Het
Krt86	A	T	15: 101,375,157 (GRCm39)	T351S	probably benign	Het
Lig4	A	G	8: 10,021,378 (GRCm39)	C801R	probably benign	Het
Lrrn4	G	A	2: 132,714,011 (GRCm39)	P312S	probably damaging	Het
Macf1	T	A	4: 123,368,641 (GRCm39)	H2040L	probably benign	Het
Madcam1	A	G	10: 79,502,466 (GRCm39)	K317E	possibly damaging	Het
Maip1	T	C	1: 57,450,961 (GRCm39)	I201T	probably damaging	Het
Map4k4	C	A	1: 40,039,840 (GRCm39)	D513E	probably benign	Het
Mideas	T	A	12: 84,209,102 (GRCm39)	I667L	probably benign	Het
Mpped1	G	A	15: 83,740,469 (GRCm39)	G137R	probably damaging	Het
Mrgprd	T	G	7: 144,875,923 (GRCm39)	F265V	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Mylk	A	G	16: 34,791,779 (GRCm39)	T1484A	probably benign	Het
Nbas	C	T	12: 13,482,923 (GRCm39)	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,633,708 (GRCm39)	S405T	probably benign	Het
Neil2	A	G	14: 63,429,227 (GRCm39)	V22A	probably damaging	Het
Nrip1	G	C	16: 76,089,193 (GRCm39)	A788G	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or10ab4	A	G	7: 107,655,160 (GRCm39)	T324A	probably benign	Het
Or10d4c	C	T	9: 39,558,496 (GRCm39)	T158I	probably damaging	Het
Or2b7	T	C	13: 21,740,169 (GRCm39)	I8V	probably benign	Het
Or2bd2	G	A	7: 6,442,020 (GRCm39)		probably benign	Het
Or2r2	T	A	6: 42,463,830 (GRCm39)	Q99L	probably damaging	Het
Or6c215	C	T	10: 129,638,222 (GRCm39)	M57I	possibly damaging	Het
Orc2	T	C	1: 58,505,221 (GRCm39)	N478S	probably damaging	Het
Oxct1	A	G	15: 4,064,806 (GRCm39)	E48G	possibly damaging	Het
Pcca	A	G	14: 122,975,324 (GRCm39)	I28V	probably benign	Het
Pcdha8	T	C	18: 37,126,241 (GRCm39)	V241A	probably benign	Het
Pgap6	T	A	17: 26,339,374 (GRCm39)	S563T	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkd2	T	A	5: 104,631,090 (GRCm39)	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,746,448 (GRCm39)	V430I	probably benign	Het
Prkd3	A	G	17: 79,278,883 (GRCm39)	M401T	probably damaging	Het
Rgmb	A	G	17: 16,027,748 (GRCm39)	C324R	probably benign	Het
Rsph6a	A	T	7: 18,799,364 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,636,209 (GRCm39)	M264K	probably benign	Het
Serhl	T	A	15: 82,985,899 (GRCm39)	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,902,159 (GRCm39)	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,587,030 (GRCm39)	Q408*	probably null	Het
Slc35b2	A	G	17: 45,877,673 (GRCm39)	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,765,242 (GRCm39)	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,351,660 (GRCm39)	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,737,810 (GRCm39)	C742*	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tor1aip1	T	A	1: 155,909,582 (GRCm39)		probably benign	Het
Trim9	T	C	12: 70,393,665 (GRCm39)	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 106,570,813 (GRCm39)	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,775,196 (GRCm39)	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,367 (GRCm39)	L881P	probably damaging	Het
Upp2	C	T	2: 58,457,454 (GRCm39)		probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn2r116	A	T	17: 23,605,736 (GRCm39)	D216V	probably damaging	Het
Vps52	A	G	17: 34,177,049 (GRCm39)	Q96R	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
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
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'- TCCCTTATCTGAGCTGGCAC -3'
(R):5'- CGAGTCCCTGAAGGTCATGAAG -3'

Sequencing Primer
(F):5'- TTATCTGAGCTGGCACAACAG -3'
(R):5'- CTGAAGGTCATGAAGGGCCTCTATC -3'

Posted On

2021-08-31