Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Atad2b'

714414

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 #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5031578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1162 (D1162E)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: D1162E

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: D1162E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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
2810021J22Rik	G	A	11: 58,880,228	A179T	probably benign	Het
Abca6	A	G	11: 110,247,264		probably null	Het
Agps	A	C	2: 75,832,241	D10A	probably damaging	Het
Atp13a4	T	C	16: 29,420,841	K851R	unknown	Het
Cdh15	A	G	8: 122,859,290	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,348,665	Y459N	probably damaging	Het
Cep192	A	T	18: 67,856,283	K1834*	probably null	Het
Cfap221	C	T	1: 119,925,631	V778I	probably benign	Het
Chpf	G	A	1: 75,476,210	T362I	probably benign	Het
Cyp4x1	T	C	4: 115,133,872	R36G	probably damaging	Het
D16Ertd472e	T	A	16: 78,545,164	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,189,991	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,376,355	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,708,343	R1714C	unknown	Het
Flcn	A	G	11: 59,803,783	V121A	probably damaging	Het
Gaa	G	T	11: 119,275,132	D423Y	probably damaging	Het
Gaa	A	C	11: 119,275,133	D423A	probably benign	Het
Garnl3	A	G	2: 33,003,869	I694T	probably damaging	Het
Gm5114	T	A	7: 39,408,818	Q459L	probably damaging	Het
H1f0	C	T	15: 79,028,747	P9L	probably damaging	Het
Hmmr	A	G	11: 40,721,828		probably null	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,740,042		probably null	Het
Lrp2	T	C	2: 69,458,488	Y3678C	probably damaging	Het
Map7	T	C	10: 20,278,235	V699A	unknown	Het
Mme	G	T	3: 63,364,885	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,230,028	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,792,642	S157P	probably damaging	Het
Muc16	T	C	9: 18,660,765	T153A	unknown	Het
Nlrp1b	A	G	11: 71,182,087	V310A	probably damaging	Het
Oas1f	T	C	5: 120,855,529	V268A	probably damaging	Het
Olfr220	A	T	1: 174,448,667	T15S	probably benign	Het
Olfr681	T	A	7: 105,121,610	I51N		Het
Padi4	A	G	4: 140,752,639	L401P	probably benign	Het
Pdzd7	A	G	19: 45,027,617	*1022Q	probably null	Het
Plcl2	C	A	17: 50,608,363	T800K	probably damaging	Het
Ppp1r37	A	T	7: 19,561,871	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,773,887	Y190F	probably benign	Het
Prpf8	A	G	11: 75,506,386	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,681,760	V457A		Het
Samd13	A	T	3: 146,662,755	D27E		Het
Sephs1	A	T	2: 4,884,363		probably benign	Het
Slc22a20	T	G	19: 5,972,996	Q373P	probably damaging	Het
Sp100	A	G	1: 85,701,458	*483W	probably null	Het
Src	A	T	2: 157,465,932	T254S	probably damaging	Het
St6galnac2	A	T	11: 116,678,518	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,685,184	W26R	probably damaging	Het
Trbv29	T	A	6: 41,271,753	D72E	probably benign	Het
Trim75	T	A	8: 64,983,909		probably benign	Het
Ttc39d	T	C	17: 80,217,325	F471S	probably damaging	Het
Vav1	C	T	17: 57,306,191	P621L	probably benign	Het
Vezt	A	T	10: 93,996,994	L185*	probably null	Het
Vmn2r42	T	C	7: 8,184,296	I826V	probably benign	Het
Vmn2r67	G	A	7: 85,151,489	T413M	probably benign	Het
Vnn1	G	A	10: 23,900,825	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,082,009	W106C	probably damaging	Het
Wdr95	T	C	5: 149,552,452	S72P	probably damaging	Het
Zfp423	T	A	8: 87,781,623	T698S	probably damaging	Het
Zfp521	G	A	18: 13,844,236	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,089,591	V9E		Het
Zmym2	T	A	14: 56,943,313	V894E	probably damaging	Het
Znrd1as	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 36,965,047		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
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
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
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'- GTCAGCATGGATATCATCAGCC -3'
(R):5'- GACCCTGGTCCATATCCATGATG -3'

Sequencing Primer
(F):5'- GGATATCATCAGCCAAGAATTTTTG -3'
(R):5'- GGTCCATATCCATGATGTCACATG -3'

Posted On

2022-06-15