Mutagenetix > Incidental Mutation

Incidental Mutation 'R4559:Atad2b'

343001

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

1110014E10Rik, D530031C13Rik

MMRRC Submission

041785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4993223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 247 (I247M)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: I247M

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: I247M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219187

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (56/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,567,240 (GRCm39)		noncoding transcript	Het
1700066M21Rik	T	C	1: 57,422,083 (GRCm39)	F153S	possibly damaging	Het
Acss1	A	G	2: 150,480,405 (GRCm39)	V222A	probably benign	Het
Atxn10	A	G	15: 85,322,321 (GRCm39)	I398V	possibly damaging	Het
Cep192	T	A	18: 68,004,584 (GRCm39)	C2312S	probably damaging	Het
Cidea	C	T	18: 67,493,298 (GRCm39)	Q106*	probably null	Het
Cnga4	A	G	7: 105,054,892 (GRCm39)	T159A	probably damaging	Het
Cyp2j12	G	T	4: 96,001,194 (GRCm39)	S304R	probably damaging	Het
Dennd2b	A	G	7: 109,124,785 (GRCm39)	F665L	probably damaging	Het
Dsg4	T	A	18: 20,603,978 (GRCm39)	V815E	probably damaging	Het
Entrep1	G	A	19: 24,007,913 (GRCm39)	S130L	probably damaging	Het
Farp1	T	C	14: 121,510,213 (GRCm39)	M737T	probably damaging	Het
Fbn1	T	A	2: 125,193,634 (GRCm39)	D1395V	possibly damaging	Het
Fbn2	C	T	18: 58,209,146 (GRCm39)	M1076I	probably benign	Het
Fitm2	T	A	2: 163,314,593 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,929,148 (GRCm39)	R3851G	probably damaging	Het
Frem2	C	T	3: 53,561,742 (GRCm39)	V922I	probably benign	Het
Gm10719	A	T	9: 3,018,945 (GRCm39)	T200S	probably benign	Het
Grin3a	T	C	4: 49,844,555 (GRCm39)	D176G	probably damaging	Het
Hdac5	T	C	11: 102,089,928 (GRCm39)		probably benign	Het
Ift140	C	A	17: 25,309,741 (GRCm39)	H1090Q	probably damaging	Het
Il20ra	A	G	10: 19,625,032 (GRCm39)	T104A	probably damaging	Het
Il22ra2	A	G	10: 19,502,460 (GRCm39)	D93G	possibly damaging	Het
Ing1	A	G	8: 11,612,090 (GRCm39)	K176R	probably benign	Het
Jph1	A	T	1: 17,074,735 (GRCm39)	C428S	probably benign	Het
Kif13b	G	T	14: 65,043,581 (GRCm39)	G1794W	probably damaging	Het
Map10	A	G	8: 126,398,553 (GRCm39)	T649A	probably benign	Het
Med12l	T	C	3: 58,914,523 (GRCm39)		probably null	Het
Nat8f1	A	G	6: 85,887,567 (GRCm39)	I131T	probably benign	Het
Oas1d	C	A	5: 121,054,958 (GRCm39)	Q177K	probably benign	Het
Or4a74	C	A	2: 89,440,043 (GRCm39)	M134I	probably damaging	Het
Or51q1	G	A	7: 103,628,767 (GRCm39)	D123N	probably damaging	Het
P2ry2	A	G	7: 100,647,363 (GRCm39)	V314A	possibly damaging	Het
Pabir2	G	A	X: 52,349,554 (GRCm39)		probably benign	Het
Pfkl	G	T	10: 77,824,717 (GRCm39)	R691S	probably benign	Het
Plb1	T	A	5: 32,490,175 (GRCm39)	I1005N	probably damaging	Het
Prkacb	A	G	3: 146,451,147 (GRCm39)		probably benign	Het
Ptprm	A	T	17: 66,990,403 (GRCm39)	Y1412N	possibly damaging	Het
Rab22a	A	G	2: 173,503,226 (GRCm39)	D13G	probably damaging	Het
Rab29	G	A	1: 131,800,305 (GRCm39)	W201*	probably null	Het
Rasa3	T	C	8: 13,648,259 (GRCm39)	E135G	probably damaging	Het
Rassf10	A	G	7: 112,554,338 (GRCm39)	E313G	probably benign	Het
Sf1	GGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGC	19: 6,424,845 (GRCm39)		probably benign	Het
Sipa1l3	A	T	7: 29,031,678 (GRCm39)	L468Q	probably damaging	Het
Slc17a1	A	T	13: 24,062,695 (GRCm39)	K254*	probably null	Het
Slc6a12	G	A	6: 121,340,820 (GRCm39)		probably null	Het
Slfn8	A	G	11: 82,895,570 (GRCm39)	L412P	probably damaging	Het
Taf4b	T	C	18: 14,946,583 (GRCm39)	S469P	probably damaging	Het
Tgoln1	T	C	6: 72,592,664 (GRCm39)	E272G	probably damaging	Het
Tlr12	C	A	4: 128,509,563 (GRCm39)	G896W	probably damaging	Het
Tnfrsf1a	A	G	6: 125,337,729 (GRCm39)	I229V	probably benign	Het
Ttn	G	A	2: 76,749,890 (GRCm39)	H3720Y	probably benign	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
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
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'- CTTGTGACTTGCAAGTAGATGTATG -3'
(R):5'- TTTTGCCACCTGAAGGAACTG -3'

Sequencing Primer
(F):5'- TGAGCAAGCATGTTTGAT -3'
(R):5'- GCCACCTGAAGGAACTGAAACTTC -3'

Posted On

2015-09-24