Mutagenetix > Incidental Mutations

Incidental Mutation 'R0894:Atad2b'

83691

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

039057-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0894 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4965915 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 547 (T547I)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045664] [ENSMUST00000218859]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045664
AA Change: T547I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: T547I

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

probably benign
Transcript: ENSMUST00000218859

Meta Mutation Damage Score

0.9451

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

97% (102/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	T	19: 58,787,583	L138Q	probably damaging	Het
1700028P14Rik	T	C	19: 23,652,698	E10G	unknown	Het
1700029J07Rik	A	G	8: 45,956,460	F274S	probably damaging	Het
2210408I21Rik	A	G	13: 77,323,607	S1044G	probably benign	Het
4930578C19Rik	T	A	X: 18,423,552	I224F	possibly damaging	Het
4931409K22Rik	T	C	5: 24,550,733		probably null	Het
9930021J03Rik	T	C	19: 29,720,574		probably benign	Het
Aanat	A	G	11: 116,596,904	H143R	probably benign	Het
Abca8a	A	G	11: 110,050,966	I1159T	probably benign	Het
Abcb1a	G	T	5: 8,674,856		probably benign	Het
Abcc1	T	C	16: 14,465,137	V1159A	possibly damaging	Het
Akr1e1	T	A	13: 4,595,072	Q204L	probably damaging	Het
Alk	T	C	17: 71,895,935	Y1135C	probably damaging	Het
C030005K15Rik	A	T	10: 97,725,786	S28T	unknown	Het
Cdk5rap3	A	G	11: 96,908,828	L387P	probably damaging	Het
Clec4f	T	A	6: 83,652,997	N193I	probably damaging	Het
Col4a4	A	T	1: 82,529,656		probably null	Het
Cplx4	T	G	18: 65,957,045	D101A	possibly damaging	Het
Cpne8	A	T	15: 90,649,271	D50E	probably damaging	Het
Csmd3	G	T	15: 47,857,920	D1542E	possibly damaging	Het
Ctdp1	A	G	18: 80,469,521	V9A	probably benign	Het
Ctnnd2	A	T	15: 30,332,155		probably benign	Het
Cyp7b1	C	T	3: 18,097,510	A180T	probably benign	Het
D3Ertd254e	T	A	3: 36,164,786	Y319*	probably null	Het
Dcun1d5	C	T	9: 7,203,379		probably benign	Het
Dgat1	G	T	15: 76,502,999	L363I	possibly damaging	Het
Dlg1	T	A	16: 31,743,147	H120Q	probably benign	Het
Dnah6	T	C	6: 73,124,757	N1928S	probably benign	Het
Dync2h1	A	T	9: 7,041,734		probably benign	Het
Ednra	T	G	8: 77,720,020		probably benign	Het
Efcab6	A	T	15: 83,918,292	C845S	probably benign	Het
Egln1	A	T	8: 124,915,696	C303S	probably damaging	Het
Eomes	T	C	9: 118,482,300		probably null	Het
Epha1	A	G	6: 42,363,822	V568A	probably benign	Het
Ercc6	T	A	14: 32,517,028	N24K	probably benign	Het
Esco2	T	C	14: 65,827,277	Q338R	probably benign	Het
Fbxo46	T	C	7: 19,135,729	V91A	probably damaging	Het
Fryl	A	T	5: 73,041,332		probably benign	Het
Gab3	A	C	X: 75,033,418	D43E	probably damaging	Het
Gltpd2	T	A	11: 70,519,709		probably benign	Het
Gm17333	G	T	16: 77,852,823		noncoding transcript	Het
Gm7353	T	C	7: 3,110,570		noncoding transcript	Het
Grik4	T	C	9: 42,688,109		probably benign	Het
Gtpbp2	G	T	17: 46,165,969	A358S	possibly damaging	Het
Hyls1	C	T	9: 35,561,232	C296Y	probably damaging	Het
Igf2r	C	T	17: 12,692,101	M1943I	probably benign	Het
Ireb2	T	A	9: 54,896,577	N517K	probably damaging	Het
Itga10	A	G	3: 96,653,660	S614G	possibly damaging	Het
Kdm2b	A	G	5: 122,984,460		probably null	Het
Kif17	T	C	4: 138,298,231	M948T	possibly damaging	Het
Klhl33	A	T	14: 50,892,126	N347K	probably damaging	Het
Llph	T	A	10: 120,228,181	C67*	probably null	Het
Lrrn3	T	C	12: 41,454,034	T95A	probably damaging	Het
Map3k12	C	A	15: 102,502,178	A455S	probably damaging	Het
Mex3d	T	C	10: 80,381,542	T149A	probably benign	Het
Myo7b	A	G	18: 32,000,070	W409R	probably damaging	Het
Nbea	A	G	3: 56,009,340	M833T	possibly damaging	Het
Ncapg	A	G	5: 45,679,894	T436A	probably null	Het
Nkx1-2	C	A	7: 132,599,313	D72Y	probably null	Het
Olfr1532-ps1	T	A	7: 106,915,110	I304K	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Olfr815	T	A	10: 129,901,882	N276I	probably damaging	Het
Pcdh15	A	G	10: 74,624,255	Y1308C	probably damaging	Het
Pcnx2	A	G	8: 125,886,926		probably benign	Het
Pcsk1	G	A	13: 75,097,977	G158D	probably damaging	Het
Phkb	A	T	8: 86,017,441	D573V	probably damaging	Het
Pik3r4	A	G	9: 105,667,771	K150E	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Ppp4r4	C	T	12: 103,600,495	A67V	probably damaging	Het
Prex2	A	G	1: 11,181,898	T1056A	probably benign	Het
Prkca	A	T	11: 108,012,692	Y285N	possibly damaging	Het
Psd	T	C	19: 46,313,441	E903G	probably damaging	Het
Psg19	T	C	7: 18,794,062	E252G	probably benign	Het
Psg20	T	A	7: 18,681,044	K306*	probably null	Het
Pygl	T	G	12: 70,194,374		probably benign	Het
Rasgrf2	A	G	13: 91,982,771	S724P	probably damaging	Het
Reck	C	A	4: 43,922,967	A414D	probably damaging	Het
Scn10a	C	A	9: 119,630,147	V1150L	probably damaging	Het
Shc2	A	T	10: 79,629,917	I187N	probably damaging	Het
Sipa1l3	T	A	7: 29,387,291	K625*	probably null	Het
Slc44a4	T	C	17: 34,928,490	L583P	possibly damaging	Het
Slc5a11	G	C	7: 123,258,420	R244P	possibly damaging	Het
Slfn8	T	A	11: 83,003,581	Q744L	probably benign	Het
Snx2	G	T	18: 53,176,416	V13L	probably benign	Het
Spsb1	C	T	4: 149,906,415		probably null	Het
Stfa2l1	A	T	16: 36,156,858	I8L	probably benign	Het
Svil	G	T	18: 5,097,494	R1659L	probably damaging	Het
Tbccd1	A	T	16: 22,822,245	L461M	probably benign	Het
Tmem9	A	T	1: 136,034,188	T174S	possibly damaging	Het
Tnks2	T	C	19: 36,890,050		probably null	Het
Tnrc18	C	A	5: 142,815,114	V30L	probably benign	Het
Tomm7	A	G	5: 23,844,027	F16S	probably damaging	Het
Ttf2	A	G	3: 100,969,549		probably benign	Het
Ubr7	C	A	12: 102,769,191	T303N	probably damaging	Het
Ushbp1	A	T	8: 71,390,224		probably null	Het
Vmn1r177	C	A	7: 23,866,050	V134F	probably benign	Het
Vmn2r12	A	G	5: 109,087,850		probably null	Het
Vmn2r53	T	G	7: 12,601,214	H173P	probably benign	Het
Wdr78	T	C	4: 103,049,386		probably benign	Het
Yars	A	T	4: 129,197,155	M119L	probably damaging	Het
Zcrb1	A	T	15: 93,397,157		probably benign	Het
Zfp319	C	A	8: 95,329,622		probably benign	Het
Zfp783	C	G	6: 47,943,386		noncoding transcript	Het
Zfyve26	A	G	12: 79,273,598	I1024T	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGACAACACCAAGATTGCTCTCTGC -3'
(R):5'- TCCTTCCTGCAAAGACATTGGCAC -3'

Sequencing Primer
(F):5'- GCTCTCTGCTAACAAATAGAGTACTG -3'
(R):5'- agaaagcaaagtgtggcaag -3'

Posted On

2013-11-08