Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01604:Atad2b'

278716

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 #

IGL01604

Quality Score

Status

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 4965837 bp (GRCm38)

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,155,324	N1792D	probably benign	Het
Abca5	T	A	11: 110,277,636	I1416L	possibly damaging	Het
Abcc4	A	T	14: 118,527,994	M992K	possibly damaging	Het
Adnp	A	G	2: 168,184,338	S346P	probably damaging	Het
Ccl12	A	G	11: 82,103,233	*105W	probably null	Het
Chd1	A	G	17: 15,770,097	D1637G	possibly damaging	Het
Cpeb2	T	C	5: 43,278,695		probably null	Het
Cul4a	T	C	8: 13,133,843		probably null	Het
Dlg1	T	A	16: 31,856,438		probably benign	Het
Fam171b	A	G	2: 83,879,600	T539A	possibly damaging	Het
Gif	A	G	19: 11,757,762	T249A	probably benign	Het
Gm9696	A	C	3: 59,972,302		noncoding transcript	Het
Jmjd1c	T	C	10: 67,249,762	F2444L	probably damaging	Het
Knl1	T	A	2: 119,070,001	F728I	probably damaging	Het
Megf9	C	A	4: 70,448,791	C318F	probably null	Het
Mpi	G	A	9: 57,550,742	A59V	possibly damaging	Het
Mrps28	A	G	3: 8,900,070	I103T	probably damaging	Het
Msantd2	G	A	9: 37,522,848	R329H	probably benign	Het
Myh7b	C	T	2: 155,632,407	L1681F	probably damaging	Het
Nf1	C	T	11: 79,441,709		probably benign	Het
Olfr1302	A	G	2: 111,780,590	K90R	possibly damaging	Het
Olfr1475	G	A	19: 13,479,248		probably benign	Het
Rapgef6	G	A	11: 54,694,563	E1596K	probably damaging	Het
Serpinb3b	T	C	1: 107,154,724	E270G	probably benign	Het
Skor2	C	A	18: 76,859,951	A456E	possibly damaging	Het
Slc13a2	A	G	11: 78,403,395	I220T	possibly damaging	Het
Slc6a1	T	A	6: 114,314,401	M361K	probably damaging	Het
Tars2	G	A	3: 95,740,278	R608C	probably damaging	Het
Tctn3	T	C	19: 40,605,302		probably null	Het
Tex14	A	G	11: 87,509,698	I439V	possibly damaging	Het
Thbs2	T	A	17: 14,678,769	I690F	probably benign	Het
Vwa8	A	G	14: 79,180,804	I1684V	possibly damaging	Het
Xdh	T	C	17: 73,909,337	I705V	probably benign	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5,024,593 (GRCm38)	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	4,965,837 (GRCm38)	unclassified	probably benign
IGL01011:Atad2b	APN	12	4,965,984 (GRCm38)	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5,017,987 (GRCm38)	missense	probably damaging	0.98
IGL01924:Atad2b	APN	12	5,034,093 (GRCm38)	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5,018,056 (GRCm38)	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	4,974,046 (GRCm38)	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4,941,972 (GRCm38)	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5,018,037 (GRCm38)	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	4,974,003 (GRCm38)	nonsense	probably null
IGL02896:Atad2b	APN	12	4,958,151 (GRCm38)	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5,006,715 (GRCm38)	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5,024,628 (GRCm38)	missense	probably benign	0.24
Plyers	UTSW	12	4,973,970 (GRCm38)	missense	probably damaging	1.00
Smidge	UTSW	12	4,990,949 (GRCm38)	missense	probably damaging	1.00
Tensor	UTSW	12	4,957,558 (GRCm38)	missense	probably damaging	1.00
Traction	UTSW	12	5,027,182 (GRCm38)	critical splice donor site	probably null
Vice	UTSW	12	5,018,002 (GRCm38)	missense	probably damaging	1.00
K3955:Atad2b	UTSW	12	4,954,536 (GRCm38)	splice site	probably benign
P0038:Atad2b	UTSW	12	4,954,536 (GRCm38)	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5,024,587 (GRCm38)	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5,031,795 (GRCm38)	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4,942,030 (GRCm38)	missense	possibly damaging	0.81
R0006:Atad2b	UTSW	12	4,942,030 (GRCm38)	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	4,952,676 (GRCm38)	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4,941,973 (GRCm38)	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4,945,035 (GRCm38)	splice site	probably benign
R0617:Atad2b	UTSW	12	4,937,401 (GRCm38)	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	4,965,915 (GRCm38)	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5,024,591 (GRCm38)	missense	probably damaging	1.00
R0960:Atad2b	UTSW	12	5,006,593 (GRCm38)	splice site	probably benign
R0973:Atad2b	UTSW	12	5,031,784 (GRCm38)	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	4,974,239 (GRCm38)	missense	probably benign	0.08
R1530:Atad2b	UTSW	12	4,942,018 (GRCm38)	nonsense	probably null
R1678:Atad2b	UTSW	12	4,965,899 (GRCm38)	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5,034,575 (GRCm38)	nonsense	probably null
R1826:Atad2b	UTSW	12	4,974,094 (GRCm38)	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	4,990,883 (GRCm38)	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5,006,745 (GRCm38)	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5,006,745 (GRCm38)	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4,942,067 (GRCm38)	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4,939,689 (GRCm38)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,939,689 (GRCm38)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,939,689 (GRCm38)	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	4,950,595 (GRCm38)	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	4,985,710 (GRCm38)	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4,940,145 (GRCm38)	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4,943,223 (GRCm38)	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4,943,223 (GRCm38)	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	4,954,663 (GRCm38)	splice site	probably null
R4639:Atad2b	UTSW	12	5,018,053 (GRCm38)	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4,944,901 (GRCm38)	splice site	probably null
R4850:Atad2b	UTSW	12	4,943,251 (GRCm38)	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4,943,251 (GRCm38)	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5,034,513 (GRCm38)	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4,937,534 (GRCm38)	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	4,965,855 (GRCm38)	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4,940,098 (GRCm38)	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4,917,911 (GRCm38)	missense	probably benign	0.01
R5754:Atad2b	UTSW	12	5,010,351 (GRCm38)	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	4,954,593 (GRCm38)	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	4,973,970 (GRCm38)	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5,018,002 (GRCm38)	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	4,957,558 (GRCm38)	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	4,952,642 (GRCm38)	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	4,990,949 (GRCm38)	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5,024,668 (GRCm38)	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5,017,992 (GRCm38)	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5,027,105 (GRCm38)	nonsense	probably null
R7405:Atad2b	UTSW	12	4,943,232 (GRCm38)	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	4,952,660 (GRCm38)	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5,010,390 (GRCm38)	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5,031,726 (GRCm38)	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5,027,182 (GRCm38)	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	4,974,160 (GRCm38)	missense	probably benign	0.02
R8253:Atad2b	UTSW	12	4,974,159 (GRCm38)	missense	possibly damaging	0.54
R8708:Atad2b	UTSW	12	4,961,253 (GRCm38)	missense	probably damaging	1.00
R8894:Atad2b	UTSW	12	5,014,001 (GRCm38)	critical splice donor site	probably null
R8948:Atad2b	UTSW	12	4,991,012 (GRCm38)	missense	possibly damaging	0.87
R8976:Atad2b	UTSW	12	4,917,923 (GRCm38)	critical splice donor site	probably null
R9052:Atad2b	UTSW	12	4,965,982 (GRCm38)	missense	probably damaging	1.00
R9057:Atad2b	UTSW	12	5,018,102 (GRCm38)	nonsense	probably null
R9134:Atad2b	UTSW	12	5,010,351 (GRCm38)	missense	probably benign	0.01
R9450:Atad2b	UTSW	12	5,013,859 (GRCm38)	missense	probably benign	0.06
R9453:Atad2b	UTSW	12	5,031,578 (GRCm38)	missense	probably benign	0.13
R9494:Atad2b	UTSW	12	5,031,852 (GRCm38)	missense	probably benign	0.26
R9634:Atad2b	UTSW	12	5,010,332 (GRCm38)	missense	probably damaging	1.00
R9764:Atad2b	UTSW	12	5,032,064 (GRCm38)	missense	probably benign

Posted On

2015-04-16