Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Atad2b'

53905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4965984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 570 (N570S)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: N570S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: N570S

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

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,258,246	C282S	probably damaging	Het
Abca12	T	C	1: 71,263,632	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,409,798	I1148S	probably damaging	Het
Aox4	C	T	1: 58,240,775	R517*	probably null	Het
Arnt2	T	A	7: 84,285,829	D289V	probably benign	Het
Aven	G	A	2: 112,629,785	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,505,179	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,124,333	S144P	probably benign	Het
Chd8	C	A	14: 52,231,532	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,524,438	N410S	probably benign	Het
Clip4	A	G	17: 71,849,939	I590V	probably benign	Het
Cnbp	C	T	6: 87,845,700	R27H	probably benign	Het
Col4a3	T	C	1: 82,682,301	V889A	unknown	Het
Cxcl5	T	C	5: 90,760,523		probably benign	Het
Dennd6a	G	T	14: 26,603,054	V171F	probably damaging	Het
Dhx38	T	C	8: 109,562,691	I26V	probably benign	Het
Dscaml1	A	G	9: 45,683,672	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,612,061		probably benign	Het
Fbn2	G	A	18: 58,095,240		probably benign	Het
Foxp2	T	A	6: 15,438,019	*715R	probably null	Het
Ftl1	A	T	7: 45,458,646	D65E	probably benign	Het
Galm	A	G	17: 80,183,280	T289A	probably benign	Het
Gm20721	A	G	2: 174,345,738	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,299,118	V47A	probably benign	Het
Gm5414	T	C	15: 101,628,134	S19G	probably benign	Het
Hdac7	T	A	15: 97,793,935	E835D	possibly damaging	Het
Hist1h1t	C	T	13: 23,696,049	L62F	probably damaging	Het
Hspg2	C	T	4: 137,559,335	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,464,219	D114E	probably benign	Het
Kif5a	A	T	10: 127,239,196	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,244,235		probably null	Het
Miga1	G	T	3: 152,276,690	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,529,200	P182S	probably damaging	Het
Myo15	A	G	11: 60,476,992	I193V	probably benign	Het
Myo1e	T	C	9: 70,316,589		probably benign	Het
Olfr190	T	A	16: 59,074,430	T217S	probably benign	Het
Olfr376	A	T	11: 73,375,007	Q86L	probably benign	Het
Olfr541	A	T	7: 140,704,437	Y62F	probably damaging	Het
Pias1	T	C	9: 62,912,855	T277A	probably benign	Het
Slamf6	T	A	1: 171,938,099	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,220,764	D202G	probably damaging	Het
Snx13	T	A	12: 35,098,280	D269E	probably damaging	Het
Tiam2	A	T	17: 3,415,028	D344V	probably benign	Het
Tmem62	G	T	2: 120,979,219	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,560,035	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,047,584	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,489	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,804,540	G551D	probably damaging	Het
Ttc37	G	A	13: 76,122,665	C127Y	probably damaging	Het
Ttn	A	G	2: 76,814,290	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328		probably benign	Het
Ubap2l	G	A	3: 90,009,256	Q915*	probably null	Het
Ubfd1	A	G	7: 122,078,472	E340G	probably benign	Het
Vil1	T	C	1: 74,434,887		probably null	Het
Vmn1r6	T	G	6: 57,002,544	L42V	probably benign	Het
Vps13c	A	G	9: 67,926,955	T1635A	probably damaging	Het
Zfhx3	T	A	8: 108,793,594	H449Q	probably benign	Het
Zfp750	A	T	11: 121,513,096	S318T	probably benign	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
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
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

Posted On

2013-06-28