Mutagenetix > Incidental Mutation

Incidental Mutation 'R3156:Atad1'

263521

Institutional Source

Beutler Lab

Gene Symbol

Atad1

Ensembl Gene

ENSMUSG00000013662

Gene Name

ATPase family, AAA domain containing 1

Synonyms

Thorase, 4921525H23Rik

MMRRC Submission

040607-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R3156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32649958-32717187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32684355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 14 (N14K)

Ref Sequence

ENSEMBL: ENSMUSP00000069962 (fasta)

Gene Model

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

AlphaFold

Q9D5T0

Predicted Effect

probably benign
Transcript: ENSMUST00000070210
AA Change: N14K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000069962
Gene: ENSMUSG00000013662
AA Change: N14K

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

Meta Mutation Damage Score

0.0674

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (39/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Adra2b	T	C	2: 127,205,570 (GRCm39)	L29P	probably damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Cbl	T	C	9: 44,070,147 (GRCm39)	I533M	possibly damaging	Het
Cdca2	T	C	14: 67,935,612 (GRCm39)	N368D	possibly damaging	Het
Cfap45	A	T	1: 172,373,291 (GRCm39)	N543Y	possibly damaging	Het
Col4a2	T	A	8: 11,363,414 (GRCm39)		probably benign	Het
Dis3l	T	C	9: 64,219,032 (GRCm39)	T633A	probably benign	Het
Dnah5	G	A	15: 28,438,237 (GRCm39)		probably benign	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gcnt2	T	C	13: 41,014,654 (GRCm39)	V275A	probably benign	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
Hmgcs1	C	T	13: 120,166,614 (GRCm39)	T402I	probably benign	Het
Hps6	A	G	19: 45,992,180 (GRCm39)	D39G	probably damaging	Het
Mab21l4	T	A	1: 93,087,764 (GRCm39)	I30F	possibly damaging	Het
Mycbp2	A	T	14: 103,446,179 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Neo1	T	C	9: 58,796,262 (GRCm39)		probably null	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or7g27	A	G	9: 19,250,720 (GRCm39)		probably null	Het
Patj	A	G	4: 98,562,465 (GRCm39)	E1478G	probably damaging	Het
Paxbp1	T	C	16: 90,832,878 (GRCm39)	T304A	probably benign	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Secisbp2	A	G	13: 51,816,711 (GRCm39)	T288A	probably benign	Het
Setbp1	A	G	18: 78,902,518 (GRCm39)	V383A	probably benign	Het
Sez6	T	A	11: 77,844,605 (GRCm39)	S143T	possibly damaging	Het
Slc5a9	A	T	4: 111,747,421 (GRCm39)	I322N	possibly damaging	Het
Szt2	A	G	4: 118,260,016 (GRCm39)		probably null	Het
Tex2	A	G	11: 106,424,695 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,523,721 (GRCm39)	L64Q	probably damaging	Het
Triml2	A	G	8: 43,640,716 (GRCm39)	N191D	probably benign	Het
Trpc1	C	T	9: 95,603,185 (GRCm39)		probably null	Het
Yeats4	C	T	10: 117,058,186 (GRCm39)	V22I	probably benign	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
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
R5284:Atad1	UTSW	19	32,664,671 (GRCm39)	missense	probably benign	0.00
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'- GCTTGGGTAAACAGTCTTTGC -3'
(R):5'- TTTTCCTTCAAATGGGGCCC -3'

Sequencing Primer
(F):5'- GTAAACAGTCTTTGCTGGCAC -3'
(R):5'- ATGGGGCCCTTCTTAAACAATGG -3'

Posted On

2015-02-05