Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Atad2b'

166571

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

039569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 4942018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 206 (R206*)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045664]

AlphaFold

E9Q166

Predicted Effect

probably null
Transcript: ENSMUST00000045664
AA Change: R206*

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: R206*

Domain	Start	End	E-Value	Type
low complexity region	13	54	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	252	278	N/A	INTRINSIC
AAA	432	573	4.56e-20	SMART
SCOP:d1e32a2	771	912	3e-4	SMART
BROMO	958	1070	4.24e-20	SMART
low complexity region	1135	1144	N/A	INTRINSIC
low complexity region	1230	1253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219187

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced body size and fertility in female mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,569,378	C425R	probably damaging	Het
Adam15	A	G	3: 89,349,830	S20P	probably damaging	Het
Adgra3	G	A	5: 49,961,137	T1023I	probably benign	Het
Angel2	T	A	1: 190,939,088	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,991,721	M321K	probably damaging	Het
Atp10b	T	A	11: 43,197,524	F319Y	probably benign	Het
AW554918	A	G	18: 25,400,104	R272G	probably damaging	Het
BC027072	A	G	17: 71,749,478	V1068A	probably benign	Het
Bpi	T	A	2: 158,261,145	I70N	probably damaging	Het
Brca1	T	C	11: 101,524,695	D871G	probably damaging	Het
Capn3	G	A	2: 120,482,208	A160T	probably damaging	Het
Cenpe	T	C	3: 135,246,902	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,732,488	M1T	probably null	Het
Csrnp1	G	C	9: 119,973,546	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,819,874	P545S	probably damaging	Het
Erap1	A	G	13: 74,646,543	E107G	probably benign	Het
Errfi1	A	G	4: 150,865,386	I49V	probably benign	Het
Fam160b1	T	A	19: 57,386,305	I704N	probably damaging	Het
Fam171b	T	C	2: 83,880,189	L735S	probably damaging	Het
Fancm	T	A	12: 65,092,490		probably null	Het
Fbp2	G	C	13: 62,837,159	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,682,976	G255V	probably damaging	Het
Fzd2	T	C	11: 102,605,308	S193P	probably benign	Het
Gak	A	G	5: 108,624,193	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,433,769	I7T	probably benign	Het
Gbp11	T	C	5: 105,327,489	H331R	probably damaging	Het
Gpr19	C	T	6: 134,869,998	V241M	probably damaging	Het
Grk6	G	A	13: 55,458,799	A437T	probably damaging	Het
Hip1	T	C	5: 135,444,780	D253G	probably damaging	Het
Ifna9	G	C	4: 88,592,172	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,312,361	T384A	probably benign	Het
Ip6k1	C	A	9: 108,045,562	C221*	probably null	Het
Kcna1	C	A	6: 126,642,531	E275D	probably benign	Het
Kcnt2	C	T	1: 140,484,232	Q468*	probably null	Het
Kin	T	C	2: 10,092,339	V333A	probably damaging	Het
Leprot	G	T	4: 101,656,287	V91L	probably benign	Het
Mettl21c	A	G	1: 44,017,184		probably null	Het
Myom2	T	C	8: 15,122,384	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,248,909	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,022	*72K	probably null	Het
Nol3	T	C	8: 105,279,226	V84A	probably benign	Het
Olfr1188	A	T	2: 88,559,483	I5F	probably benign	Het
Olfr1388	C	T	11: 49,443,905	S18L	probably benign	Het
Olfr901	T	C	9: 38,430,324	I14T	probably damaging	Het
Pdgfra	T	A	5: 75,189,010		probably null	Het
Pik3cb	T	C	9: 99,053,973	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,178,931	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,167,192	S275P	probably benign	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rapgef6	T	A	11: 54,661,183	I959K	probably damaging	Het
Scn5a	T	C	9: 119,495,562	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,826,684	S263P	probably damaging	Het
Setd5	G	A	6: 113,109,913	V34I	probably damaging	Het
Slc17a2	A	G	13: 23,819,069	D234G	probably damaging	Het
Spink5	T	A	18: 44,015,671	S934T	probably damaging	Het
St18	A	C	1: 6,845,569		probably null	Het
St3gal4	T	C	9: 35,052,296	I239V	probably benign	Het
Stag3	C	T	5: 138,297,412	T399I	probably damaging	Het
Syt11	T	C	3: 88,762,367	K6E	probably damaging	Het
Taf15	T	C	11: 83,487,296	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,496,055	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688	W406R	probably damaging	Het
Tgm6	A	G	2: 130,151,282	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,827,009		probably null	Het
Tmub2	T	C	11: 102,287,486	S72P	probably benign	Het
Trappc13	G	A	13: 104,150,143	T202I	probably damaging	Het
Trim9	T	C	12: 70,272,428	E449G	probably damaging	Het
Trip11	C	A	12: 101,912,767	G21V	unknown	Het
Ttll12	G	A	15: 83,588,655	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,351,152	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,329,944	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,785,003	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zfhx3	C	T	8: 108,948,489	P2057L	probably damaging	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5024593	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	4965837	unclassified	probably benign
IGL01011:Atad2b	APN	12	4965984	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5017987	missense	probably damaging	0.98
IGL01604:Atad2b	APN	12	4965837	unclassified	probably benign
IGL01924:Atad2b	APN	12	5034093	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5018056	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	4974046	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4941972	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5018037	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	4974003	nonsense	probably null
IGL02896:Atad2b	APN	12	4958151	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5006715	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5024628	missense	probably benign	0.24
Plyers	UTSW	12	4973970	missense	probably damaging	1.00
Smidge	UTSW	12	4990949	missense	probably damaging	1.00
Tensor	UTSW	12	4957558	missense	probably damaging	1.00
Traction	UTSW	12	5027182	critical splice donor site	probably null
Vice	UTSW	12	5018002	missense	probably damaging	1.00
K3955:Atad2b	UTSW	12	4954536	splice site	probably benign
P0038:Atad2b	UTSW	12	4954536	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5024587	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5031795	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4942030	missense	possibly damaging	0.81
R0006:Atad2b	UTSW	12	4942030	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	4952676	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4941973	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4945035	splice site	probably benign
R0617:Atad2b	UTSW	12	4937401	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	4965915	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5024591	missense	probably damaging	1.00
R0960:Atad2b	UTSW	12	5006593	splice site	probably benign
R0973:Atad2b	UTSW	12	5031784	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	4974239	missense	probably benign	0.08
R1678:Atad2b	UTSW	12	4965899	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5034575	nonsense	probably null
R1826:Atad2b	UTSW	12	4974094	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	4990883	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5006745	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5006745	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4942067	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	4950595	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	4985710	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4940145	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4943223	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4943223	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	4954663	splice site	probably null
R4639:Atad2b	UTSW	12	5018053	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4944901	splice site	probably null
R4850:Atad2b	UTSW	12	4943251	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4943251	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5034513	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4937534	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	4965855	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4940098	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4917911	missense	probably benign	0.01
R5754:Atad2b	UTSW	12	5010351	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	4954593	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	4973970	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5018002	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	4957558	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	4952642	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	4990949	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5024668	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5017992	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5027105	nonsense	probably null
R7405:Atad2b	UTSW	12	4943232	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	4952660	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5010390	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5031726	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5027182	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	4974159	missense	possibly damaging	0.54
R8253:Atad2b	UTSW	12	4974160	missense	probably benign	0.02
R8708:Atad2b	UTSW	12	4961253	missense	probably damaging	1.00
R8894:Atad2b	UTSW	12	5014001	critical splice donor site	probably null
R8948:Atad2b	UTSW	12	4991012	missense	possibly damaging	0.87
R8976:Atad2b	UTSW	12	4917923	critical splice donor site	probably null
R9052:Atad2b	UTSW	12	4965982	missense	probably damaging	1.00
R9057:Atad2b	UTSW	12	5018102	nonsense	probably null
R9134:Atad2b	UTSW	12	5010351	missense	probably benign	0.01
R9450:Atad2b	UTSW	12	5013859	missense	probably benign	0.06
R9453:Atad2b	UTSW	12	5031578	missense	probably benign	0.13
R9494:Atad2b	UTSW	12	5031852	missense	probably benign	0.26
R9634:Atad2b	UTSW	12	5010332	missense	probably damaging	1.00
R9764:Atad2b	UTSW	12	5032064	missense	probably benign

Predicted Primers

Posted On

2014-04-13