Mutagenetix > Incidental Mutations

Incidental Mutation 'R8948:Atad2b'

681468

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8948 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4991012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 227 (A227E)

Ref Sequence

ENSEMBL: ENSMUSP00000151695 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045664
AA Change: A805E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: A805E

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

possibly damaging
Transcript: ENSMUST00000218859
AA Change: A227E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	G	T	3: 88,709,912	S506I	probably damaging	Het
Abat	T	C	16: 8,600,941	I102T	possibly damaging	Het
Abca9	T	C	11: 110,163,380		probably null	Het
Ago3	T	C	4: 126,350,322		probably null	Het
Akap1	G	T	11: 88,844,273	A75E	probably damaging	Het
Bmpr1a	G	T	14: 34,441,191	H81N	possibly damaging	Het
Camkv	C	T	9: 107,947,097	T236I	probably damaging	Het
Ccdc30	T	C	4: 119,324,161	E601G	probably benign	Het
Ccin	G	A	4: 43,984,064	R157H	probably damaging	Het
Cdkn3	C	T	14: 46,767,323	P114L	probably damaging	Het
Col6a2	C	T	10: 76,610,693	G352D	probably damaging	Het
Csf2rb	A	T	15: 78,348,320	D609V	probably benign	Het
Ctc1	T	G	11: 69,026,349	Y110*	probably null	Het
D630023F18Rik	T	A	1: 65,108,740	N218I	probably damaging	Het
Dchs1	A	T	7: 105,759,005	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,290,439	D1901G	probably damaging	Het
Eddm3b	T	A	14: 51,116,653	S33T	probably damaging	Het
Efcc1	A	G	6: 87,751,786	T408A	probably benign	Het
Epas1	A	G	17: 86,827,492	T518A	probably benign	Het
Ergic2	A	T	6: 148,202,507	M84K	probably damaging	Het
Ergic3	T	C	2: 156,011,240	V201A	probably benign	Het
Espn	C	A	4: 152,138,821	W258L	probably damaging	Het
Gm45337	A	G	7: 142,144,080	S156P	unknown	Het
Hmcn2	T	C	2: 31,354,729	Y733H	probably damaging	Het
Itga2	C	T	13: 114,873,330	G363D	probably damaging	Het
Kcnk5	T	C	14: 20,141,978	R372G	probably benign	Het
Kif11	T	A	19: 37,398,154	D387E	probably damaging	Het
Lrrn2	A	C	1: 132,938,366	I390L	probably benign	Het
Map2	G	T	1: 66,380,525	R5L	probably damaging	Het
Muc16	C	T	9: 18,647,233	R2588K	unknown	Het
Olfr139	A	G	11: 74,044,956	F106S	possibly damaging	Het
Olfr1451	A	T	19: 12,999,081	I32F	probably damaging	Het
Olfr847	A	G	9: 19,374,966	I305T	probably benign	Het
Osbpl8	T	C	10: 111,267,669	I178T	probably damaging	Het
Perp	A	T	10: 18,853,578	I86F	possibly damaging	Het
Plpp1	A	T	13: 112,856,977	I149F	probably damaging	Het
Preb	A	G	5: 30,958,327	S220P	probably damaging	Het
Prrt4	T	C	6: 29,177,666	T35A	probably damaging	Het
Ror2	T	A	13: 53,131,996	I73F	possibly damaging	Het
Rpl36-ps4	A	G	17: 87,921,146	T40A	probably damaging	Het
Rsbn1	A	T	3: 103,961,514	H623L	possibly damaging	Het
Sap30	C	A	8: 57,487,422	A49S	possibly damaging	Het
Sf3b3	T	C	8: 110,823,443	T648A	probably benign	Het
Sh3pxd2a	T	C	19: 47,373,443	R83G	probably damaging	Het
Slc35e1	A	T	8: 72,492,198	I130N	probably damaging	Het
Smchd1	C	T	17: 71,436,772	R466Q	probably damaging	Het
Smgc	C	T	15: 91,838,362		probably benign	Het
Stk32b	A	T	5: 37,454,997	N348K	possibly damaging	Het
Sult2a1	A	G	7: 13,796,417	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,733,559	M1L	probably damaging	Het
Telo2	A	G	17: 25,113,111	V161A	probably benign	Het
Tmed11	C	T	5: 108,777,427	R173H	probably damaging	Het
Trappc6a	G	A	7: 19,515,998		probably benign	Het
Twistnb	T	A	12: 33,433,527	Y93N	probably damaging	Het
Vmn2r5	A	T	3: 64,491,101	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,957,361	I259T	probably damaging	Het
Vps13a	A	G	19: 16,745,976	I286T	probably damaging	Het
Vsig10l	A	T	7: 43,468,199	I739F	possibly damaging	Het
Zfyve1	A	C	12: 83,548,028	V730G	probably benign	Het
Zfyve9	A	T	4: 108,642,091	D1284E	possibly damaging	Het
Zmym4	C	T	4: 126,864,267	R1498H	probably damaging	Het
Znhit2	A	T	19: 6,061,773	R183*	probably null	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
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
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'- AGAGTAGTAGTTCCCTGCAATTTC -3'
(R):5'- CAACTTTGACAAGAGAGTCCAAAAG -3'

Sequencing Primer
(F):5'- TGCTATCTGGAGAACGAG -3'
(R):5'- GTCCAAAAGAGGGAAAATACTTTTTC -3'

Posted On

2021-08-31