Mutagenetix > Incidental Mutation

Incidental Mutation 'R9764:Atad2b'

733159

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 #

R9764 (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 5032064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1324 (N1324K)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: N1324K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: N1324K

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,030,230	T93A	unknown	Het
Adgrg6	T	A	10: 14,426,771	H938L	probably benign	Het
Aff1	A	G	5: 103,849,499	Y1153C	probably damaging	Het
Akr1c20	T	A	13: 4,514,389	I42L	probably benign	Het
Aurka	T	A	2: 172,359,840	I270F	probably damaging	Het
Camk2g	A	T	14: 20,765,430	D189E	probably damaging	Het
Cc2d2b	A	G	19: 40,815,855	D942G	unknown	Het
Ccnd1	A	C	7: 144,938,033	S90A	probably benign	Het
Cfap77	G	T	2: 28,962,729	T177K	probably damaging	Het
Chd9	A	G	8: 90,994,592	N1003D	unknown	Het
Chga	C	G	12: 102,559,354	Q85E	possibly damaging	Het
Cnot1	T	C	8: 95,769,581	S322G	probably benign	Het
Cyp8b1	C	A	9: 121,915,228	S346I	probably benign	Het
Cysltr2	T	A	14: 73,029,466	H268L	probably damaging	Het
Dnah11	T	C	12: 117,920,969	T3783A	probably benign	Het
Dock3	C	T	9: 107,082,514	V109I	probably benign	Het
Dscc1	A	G	15: 55,090,278	C50R	probably benign	Het
Dtx3l	T	A	16: 35,932,907	D443V	probably damaging	Het
Ephb6	A	G	6: 41,615,977	H383R	probably benign	Het
Fdft1	A	G	14: 63,163,420	I88T	probably damaging	Het
Fmo3	C	A	1: 162,966,955	W182L	probably benign	Het
Folh1	T	A	7: 86,756,950	Q305L	probably benign	Het
Gale	C	T	4: 135,965,664	Q73*	probably null	Het
Gm9195	T	C	14: 72,462,445	M1154V	unknown	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Gtsf1l	T	C	2: 163,087,132	T144A	probably benign	Het
Itpkc	T	C	7: 27,227,797	T231A	probably benign	Het
Kng2	C	A	16: 23,003,987	C205F	probably damaging	Het
Ldlrap1	T	G	4: 134,749,350	N244T	probably benign	Het
Lingo2	A	G	4: 35,709,750	F77L	possibly damaging	Het
Lpcat2b	A	T	5: 107,433,572	T256S	possibly damaging	Het
Lrit2	A	G	14: 37,068,979	D205G	probably damaging	Het
Lrrc34	T	C	3: 30,643,318	D88G	probably damaging	Het
Macf1	T	C	4: 123,472,343	E2875G	probably benign	Het
Med13	G	T	11: 86,286,519	Q1584K	possibly damaging	Het
Naip5	C	G	13: 100,230,761	A276P	probably damaging	Het
Ndufv2	A	G	17: 66,087,508	Y121H	probably damaging	Het
Olfr1275	T	A	2: 111,231,176	I206F	probably damaging	Het
Peg12	T	C	7: 62,463,549	T267A	unknown	Het
Pkig	A	G	2: 163,725,455		probably null	Het
Prkch	C	G	12: 73,700,304	T319S	probably benign	Het
Rhobtb1	T	C	10: 69,279,372	S534P	probably damaging	Het
Riok2	A	G	17: 17,387,552	N454S	probably benign	Het
Ryr2	T	A	13: 11,687,049	K2907N	possibly damaging	Het
Sdc3	C	T	4: 130,818,737	P136S	unknown	Het
Slc37a3	G	A	6: 39,345,910	L371F	probably damaging	Het
Slc3a1	A	T	17: 85,063,991	H657L	probably damaging	Het
Slc7a13	T	A	4: 19,819,033	Y78N	probably benign	Het
Slfn8	G	T	11: 83,017,012	A235E	probably damaging	Het
Snap91	T	A	9: 86,825,041	D232V	possibly damaging	Het
Stap2	C	A	17: 56,002,914	S79I	probably damaging	Het
Stra6l	T	C	4: 45,884,602	V544A	probably damaging	Het
Syn2	T	C	6: 115,274,258		probably null	Het
Tctn1	G	A	5: 122,250,464	P284S	possibly damaging	Het
Terb2	G	A	2: 122,187,994	M77I	probably benign	Het
Trim80	G	T	11: 115,447,931	R529L	possibly damaging	Het
Washc2	T	C	6: 116,209,087	L86P	possibly damaging	Het
Zfp74	A	T	7: 29,932,420	F133Y	probably benign	Het
Zfp987	T	A	4: 146,124,182	N61K	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGTCTAAATGGTGAGGCTTCC -3'
(R):5'- TTAATGGCCACTCCCCTCTGAG -3'

Sequencing Primer
(F):5'- CTAAATGGTGAGGCTTCCACTGAC -3'
(R):5'- CTGTTGTTTCTCCTAGAAAGCAGAC -3'

Posted On

2022-11-14