Mutagenetix > Incidental Mutation

Incidental Mutation 'R7648:Atad2b'

590652

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 5027182 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

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,612,462	V46A	possibly damaging	Het
Asb13	C	A	13: 3,649,332	N177K	probably damaging	Het
Asprv1	A	G	6: 86,628,870	T233A	probably damaging	Het
Atxn2	G	T	5: 121,796,377	V880F	probably damaging	Het
Car14	T	C	3: 95,898,195	N322S	probably benign	Het
Cdc42bpb	T	C	12: 111,377,153	E40G	probably damaging	Het
Ceacam16	G	T	7: 19,852,278	A103E	unknown	Het
Cnnm2	A	G	19: 46,877,900	D829G	probably damaging	Het
Cpt1b	C	T	15: 89,421,367	A382T	probably damaging	Het
Crygc	A	G	1: 65,073,325	F30S	probably damaging	Het
Cstf2t	A	G	19: 31,083,592	Q176R	possibly damaging	Het
Ctif	A	T	18: 75,637,142	H57Q	probably benign	Het
Cyp2c40	A	G	19: 39,803,845	*195Q	probably null	Het
Cyp2j8	T	A	4: 96,499,603	D207V	probably damaging	Het
Ddx49	A	G	8: 70,297,955	V123A	possibly damaging	Het
E4f1	A	T	17: 24,445,448	I456K	probably benign	Het
Eif4b	T	C	15: 102,089,000	S317P	unknown	Het
Enam	A	T	5: 88,504,157	Q1175L	possibly damaging	Het
Eppk1	T	C	15: 76,110,671	Y670C	probably benign	Het
Fam163b	G	T	2: 27,112,740	Q82K	probably benign	Het
Fam193a	A	T	5: 34,431,182	K358N	probably damaging	Het
Gls	C	A	1: 52,196,780	R392L	probably damaging	Het
Gm12569	G	A	11: 51,234,786	E179K	possibly damaging	Het
Gramd1c	A	G	16: 43,989,869	V247A	probably damaging	Het
Gucy1a1	C	T	3: 82,108,707	E325K	possibly damaging	Het
Hectd4	T	C	5: 121,254,371	C233R	possibly damaging	Het
Ice1	A	G	13: 70,589,797	V2177A	possibly damaging	Het
Kif28	A	G	1: 179,709,424	V498A	possibly damaging	Het
Klhdc7a	T	C	4: 139,965,939	S566G	possibly damaging	Het
Mlph	G	A	1: 90,933,526		probably null	Het
Mndal	T	A	1: 173,857,395	Y536F	probably benign	Het
Mrgpra2a	A	T	7: 47,426,663	C282*	probably null	Het
Msh3	A	T	13: 92,274,028	I684N	probably damaging	Het
Mylk	G	C	16: 34,879,524	S419T	probably benign	Het
Nfxl1	T	C	5: 72,523,536	K747R	probably benign	Het
Nup98	T	G	7: 102,124,197	H1641P	possibly damaging	Het
Olfr881	A	C	9: 37,992,560	T18P	probably damaging	Het
Pcm1	A	G	8: 41,275,699	N570D	probably damaging	Het
Plekhh1	T	A	12: 79,055,131	V325E	probably benign	Het
Rabl3	A	T	16: 37,563,758	I176F	probably damaging	Het
Relb	T	C	7: 19,619,842	E37G	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348	E773K	probably benign	Het
Tars2	G	A	3: 95,750,982	T177I	probably benign	Het
Tenm2	T	A	11: 36,106,736	N842I	probably damaging	Het
Tmem175	A	G	5: 108,644,566	E236G	possibly damaging	Het
Trank1	A	G	9: 111,391,685	T2497A	probably benign	Het
Trf	A	G	9: 103,227,969	V48A	probably benign	Het
Ttc28	A	G	5: 111,183,392	K493E	possibly damaging	Het
Unc50	T	C	1: 37,431,321	S9P	probably benign	Het
Uso1	T	A	5: 92,194,002		probably null	Het
Usp49	A	T	17: 47,674,828	N487I	possibly damaging	Het
Xab2	T	C	8: 3,610,638	D768G	probably benign	Het
Xcr1	T	C	9: 123,856,592	E35G	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
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
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'- ATGCAGCTGGGAACATGTAAC -3'
(R):5'- AACACCAAACATGTTTCAAGGG -3'

Sequencing Primer
(F):5'- GCTGGGAACATGTAACTAAGTAGTTC -3'
(R):5'- AAGCTCCTCTCTGGAAAG -3'

Posted On

2019-10-24