Mutagenetix > Incidental Mutation

Incidental Mutation 'R5284:Atad1'

402961

Institutional Source

Beutler Lab

Gene Symbol

Atad1

Ensembl Gene

ENSMUSG00000013662

Gene Name

ATPase family, AAA domain containing 1

Synonyms

Thorase, 4921525H23Rik

MMRRC Submission

042841-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R5284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32649958-32717187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32664671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 248 (M248V)

Ref Sequence

ENSEMBL: ENSMUSP00000069962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070210]

AlphaFold

Q9D5T0

Predicted Effect

probably benign
Transcript: ENSMUST00000070210
AA Change: M248V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000069962
Gene: ENSMUSG00000013662
AA Change: M248V

Domain	Start	End	E-Value	Type
coiled coil region	45	73	N/A	INTRINSIC
AAA	125	261	3.3e-17	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, seizure, absent LTD, enhanced LTP, enhanced AMPA-mediated currents, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	A	7: 45,630,483 (GRCm39)	Q1259L	probably benign	Het
Arhgef26	T	C	3: 62,327,052 (GRCm39)	S522P	probably damaging	Het
Asic5	C	T	3: 81,915,830 (GRCm39)	P218L	probably damaging	Het
Bank1	T	C	3: 135,769,915 (GRCm39)	D522G	probably damaging	Het
Bod1l	G	A	5: 41,977,810 (GRCm39)	S1168L	probably benign	Het
Cactin	A	G	10: 81,159,596 (GRCm39)	D51G	probably damaging	Het
Camkk1	A	G	11: 72,928,381 (GRCm39)	D261G	probably benign	Het
Cep152	A	G	2: 125,421,941 (GRCm39)	S930P	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Crim1	A	T	17: 78,620,695 (GRCm39)	R378S	possibly damaging	Het
Dcun1d4	T	C	5: 73,680,025 (GRCm39)		probably null	Het
Dhdds	A	G	4: 133,707,523 (GRCm39)	V187A	probably benign	Het
Ecpas	C	T	4: 58,836,172 (GRCm39)	E723K	possibly damaging	Het
Egfem1	A	G	3: 29,704,936 (GRCm39)	E251G	possibly damaging	Het
Ehhadh	T	C	16: 21,582,094 (GRCm39)		probably null	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Epb41l4a	T	A	18: 33,931,853 (GRCm39)	T581S	probably damaging	Het
Erg	C	T	16: 95,260,102 (GRCm39)	M1I	probably null	Het
Fastkd1	T	C	2: 69,542,532 (GRCm39)	T92A	probably benign	Het
Gabpb1	T	C	2: 126,494,277 (GRCm39)	H116R	possibly damaging	Het
Gucy2c	A	G	6: 136,740,041 (GRCm39)	L262P	possibly damaging	Het
Ifi203	C	T	1: 173,756,274 (GRCm39)		probably benign	Het
Kcnk13	A	C	12: 100,027,548 (GRCm39)	I208L	probably benign	Het
Klhl7	A	G	5: 24,364,615 (GRCm39)	T550A	probably benign	Het
Krtap12-1	G	T	10: 77,556,799 (GRCm39)	C114F	possibly damaging	Het
Myh7b	A	G	2: 155,474,234 (GRCm39)	T1650A	probably benign	Het
Myo19	T	A	11: 84,776,098 (GRCm39)		probably null	Het
Nav1	C	T	1: 135,377,701 (GRCm39)	W1656*	probably null	Het
Nup188	A	T	2: 30,220,647 (GRCm39)	S907C	probably damaging	Het
Oplah	A	T	15: 76,190,759 (GRCm39)	H125Q	probably benign	Het
Or6d12	T	A	6: 116,493,513 (GRCm39)	Y258*	probably null	Het
Pcnx1	A	T	12: 81,965,803 (GRCm39)	T657S	probably benign	Het
Phf14	C	A	6: 11,997,119 (GRCm39)	Q796K	probably damaging	Het
Plaa	T	C	4: 94,457,874 (GRCm39)	I699V	probably benign	Het
Prex2	C	A	1: 11,336,314 (GRCm39)	S1504*	probably null	Het
Prpf18	G	A	2: 4,650,481 (GRCm39)	Q50*	probably null	Het
Rnf213	A	G	11: 119,349,692 (GRCm39)	Y3851C	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,733 (GRCm39)	D726G	probably damaging	Het
Sacm1l	T	C	9: 123,415,485 (GRCm39)	S487P	probably damaging	Het
Setdb1	G	T	3: 95,234,881 (GRCm39)	R941S	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Smg8	G	A	11: 86,971,137 (GRCm39)	S878L	possibly damaging	Het
Trpc4	T	A	3: 54,187,368 (GRCm39)	V440E	probably damaging	Het
Tsen15	A	G	1: 152,247,624 (GRCm39)	S123P	probably damaging	Het
Tspan12	G	T	6: 21,835,466 (GRCm39)	A69D	probably damaging	Het
Ubiad1	G	A	4: 148,520,955 (GRCm39)	T223M	probably damaging	Het
Ubtfl1	A	T	9: 18,320,741 (GRCm39)	K90*	probably null	Het
Wdr19	C	T	5: 65,382,752 (GRCm39)	T492I	probably damaging	Het
Zfp423	C	T	8: 88,508,305 (GRCm39)	D659N	possibly damaging	Het

Other mutations in Atad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Atad1	APN	19	32,675,968 (GRCm39)	missense	probably benign	0.02
IGL02128:Atad1	APN	19	32,664,727 (GRCm39)	splice site	probably benign
IGL02441:Atad1	APN	19	32,684,348 (GRCm39)	missense	probably benign
R0332:Atad1	UTSW	19	32,679,934 (GRCm39)	splice site	probably benign
R0433:Atad1	UTSW	19	32,675,877 (GRCm39)	missense	probably benign	0.00
R1529:Atad1	UTSW	19	32,684,321 (GRCm39)	missense	probably benign	0.01
R1981:Atad1	UTSW	19	32,673,210 (GRCm39)	missense	probably benign	0.00
R3156:Atad1	UTSW	19	32,684,355 (GRCm39)	missense	probably benign	0.11
R4490:Atad1	UTSW	19	32,673,197 (GRCm39)	missense	probably benign	0.17
R4866:Atad1	UTSW	19	32,679,964 (GRCm39)	missense	probably benign	0.00
R5253:Atad1	UTSW	19	32,651,702 (GRCm39)	missense	probably benign	0.16
R6118:Atad1	UTSW	19	32,664,697 (GRCm39)	missense	possibly damaging	0.94
R6224:Atad1	UTSW	19	32,676,028 (GRCm39)	missense	probably damaging	1.00
R6226:Atad1	UTSW	19	32,678,987 (GRCm39)	missense	probably benign	0.00
R9523:Atad1	UTSW	19	32,684,323 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGCCTACAGGAGTTCCTTATACC -3'
(R):5'- TCACCAGTCTTTCCAGATATGC -3'

Sequencing Primer
(F):5'- AGGAGTTCCTTATACCTTTCTTTTCC -3'
(R):5'- ACCAGTCTTTCCAGATATGCAGTTG -3'

Posted On

2016-07-22