Mutagenetix > Incidental Mutation

Incidental Mutation 'R3161:Atad2b'

258178

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

040612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4939689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 133 (N133K)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045664
AA Change: N133K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: N133K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,896,490		probably benign	Het
1700066M21Rik	T	A	1: 57,383,075	N203K	probably benign	Het
1700125H20Rik	A	G	11: 85,173,284	S84G	probably damaging	Het
Adcy9	A	G	16: 4,311,588	L715P	probably damaging	Het
Adgrl2	G	A	3: 148,817,551	L1354F	probably damaging	Het
Amer2	A	G	14: 60,378,551	D65G	probably damaging	Het
Aox2	G	T	1: 58,304,438	V427L	possibly damaging	Het
Bptf	A	T	11: 107,074,476	D1182E	probably damaging	Het
Camk1g	T	C	1: 193,359,807	T45A	possibly damaging	Het
Caps2	C	A	10: 112,182,486	Y180*	probably null	Het
Cfap54	T	A	10: 93,045,278	K349N	probably damaging	Het
Ciz1	A	G	2: 32,370,063	D207G	probably benign	Het
Copa	T	A	1: 172,091,233	C127S	probably damaging	Het
Crabp2	A	T	3: 87,952,177	K45*	probably null	Het
Daam1	C	A	12: 71,947,098	T425K	unknown	Het
Dapk2	T	G	9: 66,254,611	V267G	probably damaging	Het
Disp1	T	C	1: 183,087,242	K1205E	probably benign	Het
Dlg4	G	C	11: 70,017,225	R4T	probably damaging	Het
Fbf1	A	G	11: 116,148,220	I743T	probably damaging	Het
Fen1	A	G	19: 10,200,291	L263P	probably damaging	Het
G6pc2	A	G	2: 69,220,112	N27S	probably damaging	Het
Garnl3	A	T	2: 33,034,711	N246K	probably damaging	Het
Gm7337	A	C	5: 87,851,557		noncoding transcript	Het
Gpr152	A	G	19: 4,142,714	T85A	probably benign	Het
Hnrnpu	T	C	1: 178,331,125		probably benign	Het
Ighv1-81	C	G	12: 115,920,329	E101Q	probably benign	Het
Ipo9	T	C	1: 135,409,476	T174A	probably benign	Het
Myo9a	C	T	9: 59,832,315		probably benign	Het
Nup155	G	T	15: 8,148,383	R1083S	possibly damaging	Het
Olfr1351	C	A	10: 79,017,604	T94N	probably benign	Het
Olfr213	C	T	6: 116,540,846	A131V	probably damaging	Het
Olfr262	T	C	19: 12,241,496	H55R	probably benign	Het
Olfr739	T	A	14: 50,425,031	C171S	probably damaging	Het
Phyh	T	A	2: 4,937,671		probably benign	Het
Pkp4	G	T	2: 59,308,105	R233M	probably damaging	Het
Plcb1	A	T	2: 135,335,482	Q578L	probably benign	Het
Ppil3	A	T	1: 58,434,414	N92K	probably benign	Het
Prokr1	C	T	6: 87,588,431	R144H	probably damaging	Het
Psap	T	C	10: 60,277,753	L4P	possibly damaging	Het
Rai14	T	C	15: 10,633,164	T47A	possibly damaging	Het
Rps2	G	T	17: 24,720,978	A129S	probably benign	Het
Sult2a4	T	C	7: 13,989,471	T40A	probably benign	Het
Tacr2	A	G	10: 62,265,245	D378G	probably benign	Het
Topaz1	T	C	9: 122,749,381	I452T	probably benign	Het
Ttn	A	G	2: 76,833,237		probably benign	Het
Vmn2r115	T	A	17: 23,357,024	M532K	possibly damaging	Het
Vmn2r117	A	G	17: 23,460,378	L624P	probably damaging	Het
Vstm5	T	G	9: 15,257,298	S53A	probably benign	Het
Wipf1	C	T	2: 73,434,949	E437K	probably damaging	Het
Wls	G	T	3: 159,897,436	C162F	probably damaging	Het
Yeats2	T	C	16: 20,193,645	V531A	probably damaging	Het
Zfp868	A	G	8: 69,612,085	S200P	probably benign	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
R1530:Atad2b	UTSW	12	4942018	nonsense	probably null
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
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

PCR Primer
(F):5'- ACGGTCTTGGTTAAATTTATGCTGC -3'
(R):5'- GAAACTTTTGGGCTGTGCAG -3'

Sequencing Primer
(F):5'- CAATTGACAGCAACATTAATTCAGC -3'
(R):5'- TTGGGCTGTGCAGGAGAACC -3'

Posted On

2015-01-23