Mutagenetix > Incidental Mutation

Incidental Mutation 'R1306:Atad2b'

157807

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

1110014E10Rik, D530031C13Rik

MMRRC Submission

039372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1306 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5024239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 121 (I121M)

Ref Sequence

ENSEMBL: ENSMUSP00000151695 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: I696M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: I696M

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
AA Change: I121M

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.1%
20x: 89.8%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	A	7: 80,743,621 (GRCm39)	L1146H	probably damaging	Het
Atg2a	A	T	19: 6,303,051 (GRCm39)	T1053S	probably benign	Het
Bend5	C	T	4: 111,316,970 (GRCm39)	Q127*	probably null	Het
Ccser1	G	A	6: 62,357,090 (GRCm39)	D843N	probably damaging	Het
Dennd4b	A	G	3: 90,178,472 (GRCm39)	T512A	probably benign	Het
Dnmbp	A	T	19: 43,890,218 (GRCm39)	D516E	probably benign	Het
Dok3	C	A	13: 55,675,261 (GRCm39)	E86*	probably null	Het
Fat3	A	G	9: 16,287,975 (GRCm39)	I516T	probably damaging	Het
Gabbr1	T	A	17: 37,366,882 (GRCm39)		probably null	Het
Gjd2	T	C	2: 113,842,346 (GRCm39)	T44A	probably damaging	Het
Mcm7	C	A	5: 138,165,465 (GRCm39)	A480S	probably damaging	Het
Meox2	GCACCACCACCACCACCACCA	GCACCACCACCACCACCA	12: 37,159,030 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Pdzph1	T	C	17: 59,239,427 (GRCm39)	H967R	possibly damaging	Het
Pik3c2g	A	G	6: 139,718,154 (GRCm39)	N227S	probably benign	Het
Pkd1	T	C	17: 24,792,146 (GRCm39)	S1278P	probably damaging	Het
Plch2	T	C	4: 155,091,597 (GRCm39)	E71G	probably damaging	Het
Pnma8a	A	G	7: 16,695,950 (GRCm39)	R428G	probably benign	Het
Sertad2	T	C	11: 20,598,388 (GRCm39)	S195P	probably benign	Het
Slc19a3	A	G	1: 83,000,483 (GRCm39)	L178S	probably damaging	Het
Smarca2	A	G	19: 26,748,388 (GRCm39)	D139G	possibly damaging	Het
Tm4sf19	G	A	16: 32,226,720 (GRCm39)	V170M	probably damaging	Het
Vwa3a	C	G	7: 120,399,613 (GRCm39)	S1031R	possibly 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
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
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'- GCTGGATGTCACCTCAATAGTGCTC -3'
(R):5'- TGACCTCGCATAACCAAAGTGCTC -3'

Sequencing Primer
(F):5'- TCAATAGTGCTCAGCGCC -3'
(R):5'- GAGTGAATAAACATTCACCAGGC -3'

Posted On

2014-02-18