Mutagenetix > Incidental Mutation

Incidental Mutation 'K3955:Atad2b'

67246

Institutional Source

Beutler Lab

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 #

K3955 (G3) of strain 706

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 5004536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000218303

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (42/42)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	A	1: 89,815,326 (GRCm39)	R738H	probably damaging	Het
Arhgap28	T	C	17: 68,311,001 (GRCm39)	E2G	probably damaging	Het
Atmin	T	A	8: 117,683,775 (GRCm39)	C478*	probably null	Het
Calr	T	C	8: 85,572,902 (GRCm39)	Y57C	probably damaging	Het
Cdh13	G	A	8: 119,401,843 (GRCm39)	V82M	probably damaging	Het
Ces3a	A	T	8: 105,777,259 (GRCm39)		probably benign	Het
Dmbt1	T	C	7: 130,721,293 (GRCm39)	Y1854H	probably damaging	Het
Dnah1	T	A	14: 30,988,416 (GRCm39)	M3429L	probably benign	Het
Dscam	A	G	16: 96,474,887 (GRCm39)	F1225S	probably benign	Het
E030025P04Rik	G	A	11: 109,034,778 (GRCm39)	P37S	unknown	Het
Eral1	A	T	11: 77,966,847 (GRCm39)	D189E	probably damaging	Het
Fbxw14	G	T	9: 109,105,313 (GRCm39)	P284Q	possibly damaging	Het
Fcrl6	A	G	1: 172,425,251 (GRCm39)	V260A	probably benign	Het
Fezf2	A	T	14: 12,345,097 (GRCm38)	F30Y	probably damaging	Het
Gjb4	A	T	4: 127,245,293 (GRCm39)	V216D	probably benign	Het
Gm9758	G	A	5: 14,963,522 (GRCm39)		probably benign	Het
Gm9758	C	G	5: 14,963,553 (GRCm39)	V92L	probably benign	Het
Gmps	A	C	3: 63,908,954 (GRCm39)	R485S	probably damaging	Het
Gtdc1	C	T	2: 44,642,233 (GRCm39)		probably null	Het
H2-Ob	C	T	17: 34,460,158 (GRCm39)	R19C	probably damaging	Het
Lars2	T	C	9: 123,206,842 (GRCm39)	V103A	probably damaging	Het
Mtrex	A	C	13: 113,047,513 (GRCm39)	Y277*	probably null	Het
Ndnf	G	A	6: 65,678,413 (GRCm39)		probably benign	Het
Nectin1	A	G	9: 43,703,375 (GRCm39)	Y211C	probably damaging	Het
Notch4	C	T	17: 34,787,436 (GRCm39)	T332I	probably damaging	Het
Or13c25	A	G	4: 52,911,081 (GRCm39)	F238L	probably damaging	Het
Or8g28	A	C	9: 39,169,926 (GRCm39)	L14W	probably damaging	Het
Or8g53	A	G	9: 39,683,469 (GRCm39)	I209T	probably benign	Het
Paf1	T	C	7: 28,096,350 (GRCm39)		probably null	Het
Pcdhb1	G	T	18: 37,399,026 (GRCm39)	G326C	probably damaging	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Pramel25	T	C	4: 143,521,710 (GRCm39)	I442T	possibly damaging	Het
Prkcq	T	C	2: 11,251,604 (GRCm39)		probably benign	Het
Proser3	G	T	7: 30,242,924 (GRCm39)	P218T	probably damaging	Het
Rccd1	G	A	7: 79,970,419 (GRCm39)	S66F	probably benign	Het
Recql	G	T	6: 142,323,932 (GRCm39)	S54*	probably null	Het
Samd15	G	T	12: 87,247,534 (GRCm39)	G73V	probably benign	Het
Siglec1	T	C	2: 130,923,359 (GRCm39)	N462S	probably benign	Het
Syne2	G	T	12: 75,977,439 (GRCm39)	A1296S	probably damaging	Het
Tlk1	T	C	2: 70,552,045 (GRCm39)	E542G	possibly damaging	Het
Tnks1bp1	C	T	2: 84,892,755 (GRCm39)	T232I	probably benign	Het
Tnrc6c	T	A	11: 117,651,564 (GRCm39)	Y1696N	probably damaging	Het
Uggt1	A	G	1: 36,201,434 (GRCm39)	I1102T	probably benign	Het
Vmn1r84	C	T	7: 12,095,884 (GRCm39)	V270M	probably damaging	Het
Wasf1	C	T	10: 40,812,191 (GRCm39)	P327S	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- gtgtagggcgcaTGTTAAAGATTTTAACTT -3'
(R):5'- CAGCCAAAATAACGCACATAAAACCCAA -3'

Sequencing Primer
(F):5'- ATTTACTTtgtgtttgtatgccatc -3'
(R):5'- ctagcctcaaactcagagatttac -3'

Posted On

2013-09-03