Mutagenetix > Incidental Mutation

Incidental Mutation 'R4847:Atad2b'

374521

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

042460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4847 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 4944901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably null
Transcript: ENSMUST00000045664

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	C	T	11: 80,374,114	V171M	probably damaging	Het
Abhd3	A	G	18: 10,647,786	S328P	possibly damaging	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Aldh1b1	G	T	4: 45,802,625	K54N	possibly damaging	Het
Amacr	C	T	15: 10,994,872	Q257*	probably null	Het
Ankrd12	A	T	17: 66,024,092	D309E	probably benign	Het
Anks6	T	C	4: 47,033,266	T600A	probably benign	Het
Ap3b1	A	G	13: 94,471,779	E586G	probably benign	Het
Cant1	G	A	11: 118,410,110	Q240*	probably null	Het
Casc1	T	A	6: 145,175,185	H636L	probably damaging	Het
Cep152	T	C	2: 125,618,474	Y186C	possibly damaging	Het
Cep76	C	A	18: 67,619,569	R603I	probably benign	Het
Chad	T	C	11: 94,568,327	S352P	probably benign	Het
Ckap2	T	C	8: 22,175,068	E460G	probably damaging	Het
Col22a1	T	C	15: 71,799,499	Y1004C	unknown	Het
Col9a3	G	A	2: 180,615,525	G480S	probably damaging	Het
Cpsf2	A	G	12: 101,997,302	D430G	probably benign	Het
Cramp1l	T	C	17: 24,985,089	D305G	probably damaging	Het
Ctnnd1	C	A	2: 84,622,052	E76*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2c39	A	T	19: 39,560,896	N286I	probably damaging	Het
Ddx11	A	G	17: 66,130,801	E174G	probably damaging	Het
Ddx19a	T	C	8: 110,977,045	E369G	probably damaging	Het
Epha1	T	A	6: 42,361,914	D687V	possibly damaging	Het
Fgr	T	C	4: 132,994,648	W132R	probably damaging	Het
Fras1	A	T	5: 96,544,992	D170V	possibly damaging	Het
Gas2l1	A	G	11: 5,064,173	S96P	probably damaging	Het
Gfy	G	A	7: 45,177,596	P359S	probably damaging	Het
Hexim2	A	G	11: 103,138,941	N273S	probably benign	Het
Hr	A	T	14: 70,556,476	T59S	probably benign	Het
Impdh2	T	A	9: 108,565,515	F514Y	probably benign	Het
Impdh2	A	G	9: 108,564,671	Y166C	probably damaging	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Klhl17	A	T	4: 156,231,597	H433Q	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kntc1	A	C	5: 123,802,274	N1645T	probably benign	Het
Mcm8	A	G	2: 132,820,003	I114V	probably benign	Het
Mink1	T	A	11: 70,602,028	L160Q	probably damaging	Het
Mipol1	A	T	12: 57,303,496	S27C	probably damaging	Het
Mthfr	T	C	4: 148,048,139	V217A	probably damaging	Het
Olfr1458	A	G	19: 13,102,534	Y257H	probably damaging	Het
Olfr473	T	A	7: 107,933,827	C102*	probably null	Het
Pde1c	T	C	6: 56,123,034	K614E	possibly damaging	Het
Pds5b	A	T	5: 150,748,112	E407V	probably damaging	Het
Pdzph1	A	G	17: 58,973,530	S586P	possibly damaging	Het
Prkcb	C	T	7: 122,568,149	R361W	probably benign	Het
Psen2	T	A	1: 180,245,632		probably null	Het
Ptk2	T	A	15: 73,231,956	M82L	probably benign	Het
Ptk2b	T	C	14: 66,173,882	D400G	probably damaging	Het
Samd8	G	A	14: 21,792,435	R275Q	possibly damaging	Het
Senp2	A	G	16: 22,038,636	T403A	possibly damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Skap2	T	A	6: 52,003,669	I52L	probably benign	Het
Slc5a7	T	C	17: 54,277,140	D374G	possibly damaging	Het
Slmap	A	T	14: 26,426,608	L699M	possibly damaging	Het
Sntg1	A	C	1: 8,595,482	C203G	possibly damaging	Het
Stard9	T	C	2: 120,703,113	S3284P	probably benign	Het
Tbx21	T	C	11: 97,115,031	Y36C	probably damaging	Het
Tecpr2	A	G	12: 110,939,877	Y971C	probably damaging	Het
Trpm5	T	A	7: 143,087,763	I137F	possibly damaging	Het
Ttc30a2	A	T	2: 75,977,714	N151K	probably benign	Het
Unk	A	G	11: 116,054,406	K426E	probably damaging	Het
Zc3hc1	T	C	6: 30,375,982	D193G	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
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
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'- CACAGAAGTGTATTGAATGTTGGTAGG -3'
(R):5'- ACAGGACTTCAGGGGTTTCATTG -3'

Sequencing Primer
(F):5'- TGTATTGAATGTTGGTAGGAAGAAC -3'
(R):5'- CTTGCCAATGATGAAGACTTGGGC -3'

Posted On

2016-03-16