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 (GRCm38)

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]

AlphaFold

E9Q166

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
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
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
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

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