Mutagenetix > Incidental Mutation

Incidental Mutation 'R0960:Atad2b'

81837

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

1110014E10Rik, D530031C13Rik

MMRRC Submission

039089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0960 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 5056593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,792 (GRCm39)	V256A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930474N05Rik	C	A	14: 35,818,367 (GRCm39)	H122N	probably benign	Het
Aamp	T	C	1: 74,320,304 (GRCm39)	T341A	possibly damaging	Het
Adam26a	A	T	8: 44,021,800 (GRCm39)	H563Q	probably damaging	Het
Ankrd13a	G	A	5: 114,924,868 (GRCm39)	E118K	probably benign	Het
Asic5	A	G	3: 81,913,847 (GRCm39)	I174V	probably benign	Het
Bub1b	A	G	2: 118,437,161 (GRCm39)	I120V	probably benign	Het
Casp8	T	C	1: 58,868,172 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,161,745 (GRCm39)	Y254H	probably benign	Het
Clasp1	T	C	1: 118,479,756 (GRCm39)	I996T	probably benign	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Flnc	A	G	6: 29,441,511 (GRCm39)	D431G	probably damaging	Het
Gm4884	T	A	7: 40,692,232 (GRCm39)	M67K	possibly damaging	Het
Hmx3	T	C	7: 131,145,043 (GRCm39)	Y118H	probably benign	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Il12b	G	T	11: 44,299,315 (GRCm39)	C128F	probably damaging	Het
Ints6	T	C	14: 62,947,015 (GRCm39)	M317V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kif27	T	C	13: 58,471,781 (GRCm39)	E769G	probably damaging	Het
Kif28	G	A	1: 179,523,370 (GRCm39)	Q987*	probably null	Het
Klhdc3	T	C	17: 46,987,444 (GRCm39)	H330R	possibly damaging	Het
Leo1	G	A	9: 75,352,522 (GRCm39)	E22K	probably benign	Het
Lpcat2	C	T	8: 93,596,338 (GRCm39)	T125M	probably benign	Het
Map1a	A	G	2: 121,132,124 (GRCm39)	Y742C	probably benign	Het
Mllt6	C	T	11: 97,555,772 (GRCm39)		probably benign	Het
Mpp2	A	G	11: 101,952,411 (GRCm39)	V354A	possibly damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myo10	A	G	15: 25,801,275 (GRCm39)	E1488G	probably damaging	Het
Neb	A	G	2: 52,102,995 (GRCm39)	V4461A	probably benign	Het
Nudcd1	G	T	15: 44,291,047 (GRCm39)		probably benign	Het
Or10ag59	T	C	2: 87,406,279 (GRCm39)	Y284H	probably benign	Het
Or2w1b	A	C	13: 21,300,435 (GRCm39)	D191A	possibly damaging	Het
Pde1a	G	A	2: 79,695,378 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,471,303 (GRCm39)		probably benign	Het
Selenoo	T	G	15: 88,980,957 (GRCm39)	I432S	probably benign	Het
Sh3gl2	A	T	4: 85,295,717 (GRCm39)	I140F	probably damaging	Het
Svopl	G	T	6: 37,993,992 (GRCm39)	Y346*	probably null	Het
Tbc1d17	C	T	7: 44,497,852 (GRCm39)		probably benign	Het
Tlr3	A	C	8: 45,850,452 (GRCm39)	I815S	probably damaging	Het
Tmem25	T	A	9: 44,706,809 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,008,650 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,661,421 (GRCm39)		probably benign	Het
Txndc11	A	T	16: 10,909,453 (GRCm39)	D364E	probably benign	Het
Unc5cl	G	T	17: 48,766,624 (GRCm39)		probably benign	Het
Vmn1r13	A	G	6: 57,186,996 (GRCm39)	M52V	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5,074,593 (GRCm39)	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	5,015,837 (GRCm39)	unclassified	probably benign
IGL01011:Atad2b	APN	12	5,015,984 (GRCm39)	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5,067,987 (GRCm39)	missense	probably damaging	0.98
IGL01604:Atad2b	APN	12	5,015,837 (GRCm39)	unclassified	probably benign
IGL01924:Atad2b	APN	12	5,084,093 (GRCm39)	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5,068,056 (GRCm39)	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	5,024,046 (GRCm39)	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4,991,972 (GRCm39)	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5,068,037 (GRCm39)	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	5,024,003 (GRCm39)	nonsense	probably null
IGL02896:Atad2b	APN	12	5,008,151 (GRCm39)	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5,056,715 (GRCm39)	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5,074,628 (GRCm39)	missense	probably benign	0.24
Plyers	UTSW	12	5,023,970 (GRCm39)	missense	probably damaging	1.00
Smidge	UTSW	12	5,040,949 (GRCm39)	missense	probably damaging	1.00
Tensor	UTSW	12	5,007,558 (GRCm39)	missense	probably damaging	1.00
Traction	UTSW	12	5,077,182 (GRCm39)	critical splice donor site	probably null
Vice	UTSW	12	5,068,002 (GRCm39)	missense	probably damaging	1.00
K3955:Atad2b	UTSW	12	5,004,536 (GRCm39)	splice site	probably benign
P0038:Atad2b	UTSW	12	5,004,536 (GRCm39)	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5,074,587 (GRCm39)	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5,081,795 (GRCm39)	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4,992,030 (GRCm39)	missense	possibly damaging	0.81
R0006:Atad2b	UTSW	12	4,992,030 (GRCm39)	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	5,002,676 (GRCm39)	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4,991,973 (GRCm39)	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4,995,035 (GRCm39)	splice site	probably benign
R0617:Atad2b	UTSW	12	4,987,401 (GRCm39)	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	5,015,915 (GRCm39)	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5,074,591 (GRCm39)	missense	probably damaging	1.00
R0973:Atad2b	UTSW	12	5,081,784 (GRCm39)	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	5,024,239 (GRCm39)	missense	probably benign	0.08
R1530:Atad2b	UTSW	12	4,992,018 (GRCm39)	nonsense	probably null
R1678:Atad2b	UTSW	12	5,015,899 (GRCm39)	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5,084,575 (GRCm39)	nonsense	probably null
R1826:Atad2b	UTSW	12	5,024,094 (GRCm39)	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	5,040,883 (GRCm39)	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5,056,745 (GRCm39)	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5,056,745 (GRCm39)	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4,992,067 (GRCm39)	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4,989,689 (GRCm39)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,989,689 (GRCm39)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,989,689 (GRCm39)	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	5,000,595 (GRCm39)	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	5,035,710 (GRCm39)	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4,990,145 (GRCm39)	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4,993,223 (GRCm39)	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4,993,223 (GRCm39)	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	5,004,663 (GRCm39)	splice site	probably null
R4639:Atad2b	UTSW	12	5,068,053 (GRCm39)	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4,994,901 (GRCm39)	splice site	probably null
R4850:Atad2b	UTSW	12	4,993,251 (GRCm39)	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4,993,251 (GRCm39)	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5,084,513 (GRCm39)	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4,987,534 (GRCm39)	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	5,015,855 (GRCm39)	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4,990,098 (GRCm39)	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4,967,911 (GRCm39)	missense	probably benign	0.01
R5754:Atad2b	UTSW	12	5,060,351 (GRCm39)	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	5,004,593 (GRCm39)	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	5,023,970 (GRCm39)	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5,068,002 (GRCm39)	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	5,007,558 (GRCm39)	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	5,002,642 (GRCm39)	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	5,040,949 (GRCm39)	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5,074,668 (GRCm39)	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5,067,992 (GRCm39)	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5,077,105 (GRCm39)	nonsense	probably null
R7405:Atad2b	UTSW	12	4,993,232 (GRCm39)	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	5,002,660 (GRCm39)	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5,060,390 (GRCm39)	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5,081,726 (GRCm39)	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5,077,182 (GRCm39)	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	5,024,160 (GRCm39)	missense	probably benign	0.02
R8253:Atad2b	UTSW	12	5,024,159 (GRCm39)	missense	possibly damaging	0.54
R8708:Atad2b	UTSW	12	5,011,253 (GRCm39)	missense	probably damaging	1.00
R8894:Atad2b	UTSW	12	5,064,001 (GRCm39)	critical splice donor site	probably null
R8948:Atad2b	UTSW	12	5,041,012 (GRCm39)	missense	possibly damaging	0.87
R8976:Atad2b	UTSW	12	4,967,923 (GRCm39)	critical splice donor site	probably null
R9052:Atad2b	UTSW	12	5,015,982 (GRCm39)	missense	probably damaging	1.00
R9057:Atad2b	UTSW	12	5,068,102 (GRCm39)	nonsense	probably null
R9134:Atad2b	UTSW	12	5,060,351 (GRCm39)	missense	probably benign	0.01
R9450:Atad2b	UTSW	12	5,063,859 (GRCm39)	missense	probably benign	0.06
R9453:Atad2b	UTSW	12	5,081,578 (GRCm39)	missense	probably benign	0.13
R9494:Atad2b	UTSW	12	5,081,852 (GRCm39)	missense	probably benign	0.26
R9634:Atad2b	UTSW	12	5,060,332 (GRCm39)	missense	probably damaging	1.00
R9764:Atad2b	UTSW	12	5,082,064 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTTGTTTGTACATGGTAAAGGCCAA -3'
(R):5'- TCAGGCAGTTCACTGTACATGGTTTC -3'

Sequencing Primer
(F):5'- TGTACATGGTAAAGGCCAATTTTC -3'
(R):5'- ACTGTACATGGTTTCAGAGGTAGAC -3'

Posted On

2013-11-08