Mutagenetix > Incidental Mutation

Incidental Mutation 'R8783:Atad3a'

670391

Institutional Source

Beutler Lab

Gene Symbol

Atad3a

Ensembl Gene

ENSMUSG00000029036

Gene Name

ATPase family, AAA domain containing 3A

Synonyms

Tob3, 2400004H09Rik

MMRRC Submission

068631-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8783 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155825098-155845550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155840152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 142 (D142V)

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: D142V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: D142V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176043
AA Change: D142V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135405
Gene: ENSMUSG00000029036
AA Change: D142V

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: D117V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138808
Gene: ENSMUSG00000029036
AA Change: D117V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (75/75)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	T	A	13: 54,700,520 (GRCm39)	M273L	probably benign	Het
Aars1	A	G	8: 111,776,515 (GRCm39)	N657S	probably benign	Het
Ahnak	A	T	19: 8,988,837 (GRCm39)	N3374Y	probably damaging	Het
Ank2	T	C	3: 126,846,455 (GRCm39)	E180G	probably damaging	Het
Arhgap20	T	A	9: 51,727,967 (GRCm39)		probably benign	Het
Armc5	G	A	7: 127,837,425 (GRCm39)	A43T	probably damaging	Het
B4galnt4	A	T	7: 140,643,759 (GRCm39)	K54M	probably damaging	Het
Bcl11b	T	C	12: 107,883,562 (GRCm39)	E251G	probably damaging	Het
Bptf	A	G	11: 107,022,357 (GRCm39)	V131A	unknown	Het
Btbd7	T	A	12: 102,754,501 (GRCm39)	H755L	probably benign	Het
Cadps2	A	G	6: 23,302,303 (GRCm39)	V1128A	possibly damaging	Het
Ccl2	T	C	11: 81,927,360 (GRCm39)	I43T	probably damaging	Het
Cdc25b	T	G	2: 131,033,772 (GRCm39)	S207A	probably benign	Het
Chd4	A	G	6: 125,100,347 (GRCm39)	T1725A	possibly damaging	Het
Cmya5	A	T	13: 93,225,888 (GRCm39)	S3067T	possibly damaging	Het
Col9a3	G	A	2: 180,255,970 (GRCm39)	D448N	probably damaging	Het
Cpxm1	C	A	2: 130,237,643 (GRCm39)	R187S	probably benign	Het
Cramp1	T	A	17: 25,193,732 (GRCm39)	N916I	probably damaging	Het
Creld1	A	G	6: 113,468,686 (GRCm39)	Y269C	probably damaging	Het
Ctsz	G	T	2: 174,280,675 (GRCm39)	S6*	probably null	Het
Cul7	T	C	17: 46,966,575 (GRCm39)	S633P	probably benign	Het
Eci2	T	A	13: 35,174,180 (GRCm39)	N160I	probably damaging	Het
Eef2	T	A	10: 81,015,499 (GRCm39)	M340K	probably damaging	Het
Enpp6	A	T	8: 47,440,220 (GRCm39)	Y72F	possibly damaging	Het
Erbb4	A	C	1: 68,079,331 (GRCm39)	Y1250D	possibly damaging	Het
Fhad1	C	T	4: 141,636,403 (GRCm39)	V1146M	probably benign	Het
Fryl	T	C	5: 73,226,185 (GRCm39)	Y1826C	probably benign	Het
Gm3252	A	G	14: 4,743,761 (GRCm38)	K200E	probably benign	Het
Gramd1a	T	C	7: 30,832,220 (GRCm39)	T640A	possibly damaging	Het
Gse1	A	T	8: 121,303,117 (GRCm39)	Q1086L	unknown	Het
Gtf2f2	C	A	14: 76,245,164 (GRCm39)	G41W	probably damaging	Het
Hhat	A	G	1: 192,196,245 (GRCm39)	Y483H	probably damaging	Het
Ifna13	T	A	4: 88,562,526 (GRCm39)	R33W	probably damaging	Het
Ighg2c	T	A	12: 113,252,412 (GRCm39)	S47C		Het
Ing5	A	T	1: 93,740,154 (GRCm39)	D101V	probably damaging	Het
Kif23	T	C	9: 61,834,853 (GRCm39)	T379A	probably benign	Het
Ltn1	A	T	16: 87,207,247 (GRCm39)	S898T	probably benign	Het
Mep1a	T	C	17: 43,789,081 (GRCm39)	D578G	probably benign	Het
Mgam	A	T	6: 40,633,423 (GRCm39)	H243L	probably damaging	Het
Mlf1	G	A	3: 67,291,997 (GRCm39)	R54H	probably benign	Het
Mtus2	A	T	5: 148,019,861 (GRCm39)	K752M	probably damaging	Het
Muc21	T	C	17: 35,930,875 (GRCm39)	T1104A	unknown	Het
Mup18	T	A	4: 61,591,767 (GRCm39)	D53V	probably benign	Het
Neb	A	T	2: 52,148,644 (GRCm39)	D2634E	probably damaging	Het
Nfatc3	A	T	8: 106,825,784 (GRCm39)	I620F	possibly damaging	Het
Nrg1	A	T	8: 32,448,629 (GRCm39)	L104Q	probably benign	Het
Nsd2	T	A	5: 34,036,455 (GRCm39)	D646E	possibly damaging	Het
Or10w1	A	T	19: 13,632,323 (GRCm39)	R177W	probably damaging	Het
Or4p19	T	C	2: 88,242,951 (GRCm39)	N17S	probably benign	Het
Or51ai2	A	T	7: 103,586,751 (GRCm39)	T55S	possibly damaging	Het
Pbp2	T	C	6: 135,287,330 (GRCm39)	S6G	probably benign	Het
Pcdhga5	T	C	18: 37,828,596 (GRCm39)	I348T	probably benign	Het
Pdxk	A	G	10: 78,287,339 (GRCm39)	V74A	probably benign	Het
Pdzrn3	C	T	6: 101,132,841 (GRCm39)	R469H	probably damaging	Het
Pla2g4a	A	T	1: 149,740,741 (GRCm39)	S395R	probably damaging	Het
Polr2i	A	G	7: 29,931,790 (GRCm39)	Y7C	possibly damaging	Het
Psmc5	A	T	11: 106,153,858 (GRCm39)	K397N	possibly damaging	Het
Ptprz1	A	G	6: 23,002,026 (GRCm39)	D1372G	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rapgef2	A	T	3: 79,005,651 (GRCm39)	V181E	probably damaging	Het
Rassf3	T	G	10: 121,253,069 (GRCm39)	N46T	probably benign	Het
Rnf123	T	C	9: 107,946,272 (GRCm39)	E301G	probably benign	Het
Sec24b	T	A	3: 129,783,342 (GRCm39)	M1099L	probably benign	Het
Shisa4	A	G	1: 135,300,944 (GRCm39)	C109R	probably damaging	Het
Slc7a1	T	A	5: 148,279,643 (GRCm39)	E237V	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r105	A	G	6: 131,663,732 (GRCm39)	I232T	possibly damaging	Het
Tas2r136	T	C	6: 132,754,612 (GRCm39)	T172A	probably benign	Het
Tdpoz8	A	G	3: 92,981,780 (GRCm39)	Y192C	probably damaging	Het
Trim6	G	A	7: 103,874,853 (GRCm39)	C30Y	probably damaging	Het
Trim65	T	A	11: 116,017,143 (GRCm39)	N440Y	probably damaging	Het
Ttn	A	C	2: 76,573,694 (GRCm39)	I25733S	probably damaging	Het
Ttn	T	G	2: 76,619,358 (GRCm39)	T16035P	probably damaging	Het
Vmn2r73	A	T	7: 85,507,668 (GRCm39)	M548K	probably damaging	Het
Vmn2r88	A	T	14: 51,651,523 (GRCm39)	E279V		Het
Wfdc8	G	A	2: 164,447,769 (GRCm39)	S97F	probably benign	Het
Wrn	G	A	8: 33,826,041 (GRCm39)	A207V	probably null	Het
Xrcc2	T	C	5: 25,897,217 (GRCm39)	D244G	possibly damaging	Het
Zfp251	C	T	15: 76,737,413 (GRCm39)	G560E	probably 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
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
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'- TCGTGCACACAGGTCATGAATATG -3'
(R):5'- AACCTCGAAGCCATGGACTC -3'

Sequencing Primer
(F):5'- ATGAACATGCCAGGGTCTATGTC -3'
(R):5'- AAGCCATGGACTCCTTGGTACAG -3'

Posted On

2021-04-30