Mutagenetix > Incidental Mutation

Incidental Mutation 'R4490:Atad1'

330700

Institutional Source

Beutler Lab

Gene Symbol

Atad1

Ensembl Gene

ENSMUSG00000013662

Gene Name

ATPase family, AAA domain containing 1

Synonyms

Thorase, 4921525H23Rik

MMRRC Submission

041746-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R4490 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32649958-32717187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32673197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 229 (C229R)

Ref Sequence

ENSEMBL: ENSMUSP00000069962 (fasta)

Gene Model

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

AlphaFold

Q9D5T0

Predicted Effect

probably benign
Transcript: ENSMUST00000070210
AA Change: C229R

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000069962
Gene: ENSMUSG00000013662
AA Change: C229R

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

0.1344

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,349 (GRCm39)	V417A	probably damaging	Het
Adgrb2	T	C	4: 129,906,121 (GRCm39)	V881A	possibly damaging	Het
Arl5c	G	A	11: 97,886,662 (GRCm39)	R10*	probably null	Het
Atp6v0a2	T	C	5: 124,784,674 (GRCm39)	V319A	probably damaging	Het
Cage1	A	G	13: 38,207,393 (GRCm39)	S257P	possibly damaging	Het
Ccndbp1	A	G	2: 120,842,876 (GRCm39)	D179G	probably damaging	Het
Cngb3	T	C	4: 19,415,684 (GRCm39)	I398T	probably benign	Het
Crmp1	A	G	5: 37,433,675 (GRCm39)	D178G	probably damaging	Het
Csmd3	C	T	15: 48,177,429 (GRCm39)	V370I	possibly damaging	Het
Dapk1	A	G	13: 60,865,942 (GRCm39)	T180A	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
F5	T	C	1: 164,044,964 (GRCm39)	V2084A	probably benign	Het
Fan1	A	T	7: 64,018,928 (GRCm39)	S476T	possibly damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Gbp2	A	G	3: 142,329,525 (GRCm39)	N24S	probably benign	Het
Gm14325	T	C	2: 177,474,776 (GRCm39)	H101R	possibly damaging	Het
Gpr55	C	T	1: 85,869,540 (GRCm39)	V14M	probably damaging	Het
Herc6	A	T	6: 57,631,480 (GRCm39)	Y724F	probably damaging	Het
Impg1	T	A	9: 80,301,341 (GRCm39)	Q195L	probably damaging	Het
Inf2	T	C	12: 112,566,638 (GRCm39)	F68L	probably damaging	Het
Kcnh8	T	C	17: 53,268,905 (GRCm39)		probably null	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Kpnb1	A	G	11: 97,062,424 (GRCm39)	V447A	probably benign	Het
Nckap5l	G	A	15: 99,324,011 (GRCm39)	P831S	probably benign	Het
Ncor2	A	G	5: 125,113,879 (GRCm39)		probably null	Het
Or4b1d	A	T	2: 89,969,261 (GRCm39)	V74D	probably damaging	Het
Pgm3	T	C	9: 86,443,893 (GRCm39)	Y337C	probably damaging	Het
Prdm1	G	T	10: 44,322,903 (GRCm39)	Y197*	probably null	Het
Prdm4	A	T	10: 85,736,763 (GRCm39)	C626S	probably damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Ranbp6	A	G	19: 29,787,733 (GRCm39)	L873P	probably damaging	Het
Rin2	A	G	2: 145,664,194 (GRCm39)	T23A	possibly damaging	Het
Rxra	G	T	2: 27,631,207 (GRCm39)	R118L	probably damaging	Het
Spice1	T	C	16: 44,202,476 (GRCm39)	L750P	probably damaging	Het
Trpm1	C	T	7: 63,858,660 (GRCm39)	Q228*	probably null	Het
Tsc1	A	G	2: 28,560,937 (GRCm39)	D265G	probably damaging	Het
Usp29	T	C	7: 6,964,949 (GRCm39)	I264T	possibly damaging	Het
Vmn2r26	T	C	6: 124,027,697 (GRCm39)	L479P	possibly damaging	Het
Zfp9	A	G	6: 118,442,273 (GRCm39)	S130P	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
R3156:Atad1	UTSW	19	32,684,355 (GRCm39)	missense	probably benign	0.11
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'- CGGAGTGTGAGCTCTTCTAC -3'
(R):5'- TTGTTGTTTTACGAACTTCACAGCC -3'

Sequencing Primer
(F):5'- TGGTTCCTTATCACTTAGCA -3'
(R):5'- CGAACTTCACAGCCTTTTTAATAGTC -3'

Posted On

2015-07-21