Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03227:Atad2b'

414126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

1110014E10Rik, D530031C13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03227

Quality Score

Status

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5056715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 857 (L857Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably damaging
Transcript: ENSMUST00000045664
AA Change: L857Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: L857Q

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
Adgrb3	C	T	1: 25,586,556 (GRCm39)	G172E	probably damaging	Het
Alas2	A	G	X: 149,340,262 (GRCm39)	K151E	probably damaging	Het
Apob	A	G	12: 8,066,089 (GRCm39)	T4353A	probably benign	Het
Arhgef1	C	A	7: 24,622,276 (GRCm39)	D554E	probably damaging	Het
Atp2b4	C	A	1: 133,657,445 (GRCm39)		probably benign	Het
Bche	C	A	3: 73,608,945 (GRCm39)	K160N	probably damaging	Het
Bmx	A	G	X: 162,986,192 (GRCm39)	M537T	probably damaging	Het
Bysl	T	C	17: 47,922,017 (GRCm39)	N27S	probably benign	Het
Ccdc110	T	A	8: 46,394,586 (GRCm39)	L159H	probably damaging	Het
Cd34	G	A	1: 194,640,771 (GRCm39)	C212Y	probably damaging	Het
Erich2	C	T	2: 70,343,114 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,361,107 (GRCm39)		probably null	Het
Fitm2	T	C	2: 163,311,452 (GRCm39)	T254A	probably benign	Het
Fscn3	T	C	6: 28,434,429 (GRCm39)	S335P	probably benign	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Lbr	T	C	1: 181,663,620 (GRCm39)		probably null	Het
Lct	A	T	1: 128,255,426 (GRCm39)	F205L	probably benign	Het
Magi3	A	T	3: 103,958,435 (GRCm39)	I550N	probably benign	Het
Med13	A	G	11: 86,218,618 (GRCm39)		probably benign	Het
Msh3	A	T	13: 92,422,468 (GRCm39)	S563T	probably damaging	Het
Msra	A	G	14: 64,551,192 (GRCm39)	V50A	probably benign	Het
Or7g25	A	G	9: 19,160,518 (GRCm39)	M59T	probably damaging	Het
Pcdhb13	T	A	18: 37,576,711 (GRCm39)	V363E	probably damaging	Het
Piezo2	G	A	18: 63,257,677 (GRCm39)	T347M	probably damaging	Het
Rapgef2	T	C	3: 78,999,920 (GRCm39)		probably benign	Het
Rtl9	A	C	X: 141,882,824 (GRCm39)	T79P	probably benign	Het
Slc15a2	A	G	16: 36,576,410 (GRCm39)		probably null	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Smurf1	G	T	5: 144,835,992 (GRCm39)	P123H	probably damaging	Het
Strn4	A	G	7: 16,571,639 (GRCm39)	T590A	possibly damaging	Het
Trpm6	T	C	19: 18,796,483 (GRCm39)	S780P	probably benign	Het
Trpm6	T	C	19: 18,764,143 (GRCm39)	Y250H	probably benign	Het
Zfp770	A	T	2: 114,027,570 (GRCm39)	C166*	probably null	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
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
R0960:Atad2b	UTSW	12	5,056,593 (GRCm39)	splice site	probably benign
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

Posted On

2016-08-02