Mutagenetix > Incidental Mutation

Incidental Mutation 'R1996:Atad2b'

225769

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

040006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1996 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4990883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 184 (H184L)

Ref Sequence

ENSEMBL: ENSMUSP00000151695 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000218859
AA Change: H184L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220408

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

99% (84/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,669,597	W1069R	probably damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca3	A	G	17: 24,387,532	E787G	probably damaging	Het
Abi3bp	A	T	16: 56,671,357	E582D	possibly damaging	Het
Adam21	A	G	12: 81,559,602	M462T	possibly damaging	Het
Alox12e	T	C	11: 70,316,208	T591A	probably benign	Het
Ankmy2	T	C	12: 36,193,797	M337T	probably benign	Het
Antxrl	A	G	14: 34,075,829	N587S	probably benign	Het
Apol6	T	A	15: 77,050,756	I75N	probably benign	Het
Atf6b	A	T	17: 34,652,987		probably null	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
B3gnt4	G	A	5: 123,511,339	V256I	probably damaging	Het
BC034090	C	T	1: 155,221,594		probably benign	Het
Bend4	C	A	5: 67,400,184	V430F	probably damaging	Het
Camkv	A	G	9: 107,947,121	D244G	probably damaging	Het
Caps2	T	A	10: 112,204,003	L450Q	probably damaging	Het
Ccr1	T	A	9: 123,963,514	K326N	probably benign	Het
Cep135	T	C	5: 76,632,266	I815T	probably benign	Het
Chchd4	A	G	6: 91,465,134	Y101H	probably damaging	Het
Copb1	G	C	7: 114,232,203	A570G	probably benign	Het
Cpsf2	C	A	12: 101,998,608	T505K	probably benign	Het
Cwf19l2	A	G	9: 3,417,947	R136G	probably benign	Het
Daxx	A	G	17: 33,913,611	T572A	possibly damaging	Het
Etaa1	C	A	11: 17,952,671	D89Y	probably damaging	Het
Fchsd2	T	C	7: 101,278,453	F701L	probably benign	Het
Fstl5	A	T	3: 76,707,834	H734L	probably benign	Het
Gabbr1	T	A	17: 37,069,220	W584R	probably damaging	Het
Galc	T	C	12: 98,252,026	D189G	probably damaging	Het
Gm4778	A	T	3: 94,265,711	M9L	probably benign	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Grin2b	T	C	6: 136,044,211	S31G	possibly damaging	Het
Gtf2ird1	T	C	5: 134,376,886		probably benign	Het
Hoxc4	T	C	15: 103,035,757	I187T	probably damaging	Het
Hsd3b6	A	T	3: 98,806,281	I234N	probably damaging	Het
Ifit3b	T	C	19: 34,611,477	C18R	probably damaging	Het
Igdcc4	T	A	9: 65,121,819	V246E	probably damaging	Het
Il1rap	A	T	16: 26,722,493	T495S	probably benign	Het
Kctd19	T	C	8: 105,395,300	E205G	probably null	Het
Kif21a	A	T	15: 90,994,371	C235*	probably null	Het
Krt16	A	T	11: 100,248,788	S35T	unknown	Het
Lamc2	T	C	1: 153,154,470	D142G	possibly damaging	Het
Larp4	G	T	15: 99,984,963	W22L	probably damaging	Het
Ldlrad1	C	T	4: 107,214,961	R127*	probably null	Het
Mamdc2	G	A	19: 23,363,925	Q229*	probably null	Het
Mbtd1	CT	CTT	11: 93,932,396		probably null	Het
Msln	T	A	17: 25,754,219	M1L	possibly damaging	Het
Mtch2	T	C	2: 90,847,321	V8A	possibly damaging	Het
Nav3	A	T	10: 109,853,401	N338K	probably damaging	Het
Olfr248	T	C	1: 174,391,417	M116T	probably damaging	Het
Olfr33	A	G	7: 102,713,792	L207P	probably damaging	Het
Olfr774	C	A	10: 129,238,429	N93K	possibly damaging	Het
Otof	A	G	5: 30,421,037	V89A	probably benign	Het
Phka2	T	C	X: 160,541,415	I255T	probably benign	Het
Pias2	T	C	18: 77,129,063		probably null	Het
Pja2	T	A	17: 64,287,644		probably null	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pnpt1	T	A	11: 29,141,679	D363E	probably benign	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Rexo5	T	A	7: 119,823,857	V304E	probably damaging	Het
Robo1	G	T	16: 72,970,179	R413L	probably benign	Het
Rsf1	G	A	7: 97,664,632	E864K	probably damaging	Het
Scap	C	T	9: 110,372,971		probably benign	Het
Scn8a	T	A	15: 101,024,379	M1311K	probably damaging	Het
Slc28a2	A	T	2: 122,455,562	I460F	probably damaging	Het
Smco1	A	G	16: 32,273,912	R134G	probably benign	Het
Sspo	A	G	6: 48,475,490	E2651G	possibly damaging	Het
Stab2	T	C	10: 87,003,031	N57S	probably damaging	Het
Tenm3	C	A	8: 48,228,668	Q2642H	probably damaging	Het
Thsd7b	G	T	1: 129,758,451	E577*	probably null	Het
Tlr3	A	G	8: 45,397,697	V721A	probably benign	Het
Tnik	A	G	3: 28,665,680	I1226V	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Tyw1	T	A	5: 130,262,811		probably benign	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r111	T	C	17: 22,548,081	I812V	probably benign	Het
Vmn2r26	A	G	6: 124,061,185	N573S	probably damaging	Het
Vmn2r45	G	A	7: 8,472,025	T668I	probably damaging	Het
Zbtb20	T	A	16: 43,610,080	V318E	probably damaging	Het
Zc2hc1c	A	G	12: 85,296,660	R524G	probably benign	Het
Zc3h18	C	G	8: 122,407,387		probably benign	Het
Zfp618	T	C	4: 63,131,215		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
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
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'- ACAGTCTTGCTCTCCCCAAG -3'
(R):5'- CCTGTGCACATGATTCTTCAG -3'

Sequencing Primer
(F):5'- TGCTCTCCCCAAGCTAATATATAATG -3'
(R):5'- ACATGATTCTTCAGGTGTTTTGGCAC -3'

Posted On

2014-08-25