Mutagenetix > Incidental Mutation

Incidental Mutation 'R5405:Atad2b'

428684

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 #

R5405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4990098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 141 (R141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045664
AA Change: R141Q

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: R141Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,179 (GRCm39)	T298S	probably benign	Het
B3glct	A	G	5: 149,632,818 (GRCm39)	Q56R	probably damaging	Het
Cdc42bpa	A	G	1: 179,894,894 (GRCm39)	Y358C	probably damaging	Het
Cdc42bpa	A	G	1: 179,966,085 (GRCm39)	E1136G	possibly damaging	Het
Ceacam1	A	T	7: 25,163,290 (GRCm39)	N314K	probably benign	Het
Ces1g	A	T	8: 94,032,496 (GRCm39)	I488N	probably benign	Het
Chd6	C	T	2: 160,807,310 (GRCm39)	R1968K	probably benign	Het
Cyp27b1	C	T	10: 126,886,255 (GRCm39)	T312I	possibly damaging	Het
Cyp39a1	C	T	17: 43,987,831 (GRCm39)	A99V	probably damaging	Het
Dipk1a	C	T	5: 108,057,827 (GRCm39)	V199I	probably benign	Het
Dnaaf9	A	G	2: 130,554,380 (GRCm39)	S890P	probably damaging	Het
Efcab3	A	T	11: 104,612,018 (GRCm39)	D620V	probably benign	Het
Elapor1	A	T	3: 108,375,102 (GRCm39)	C588*	probably null	Het
Erc1	A	T	6: 119,801,905 (GRCm39)	S37R	probably damaging	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,013,644 (GRCm39)	I43V	possibly damaging	Het
Ins2	C	T	7: 142,233,134 (GRCm39)	R46H	probably damaging	Het
Krt77	T	C	15: 101,769,523 (GRCm39)	I413V	probably damaging	Het
Lpin3	A	G	2: 160,745,849 (GRCm39)	D660G	probably damaging	Het
Mpp3	T	C	11: 101,901,047 (GRCm39)	Q318R	probably benign	Het
Mpzl2	T	C	9: 44,958,503 (GRCm39)	S80P	probably damaging	Het
Mrpl2	T	C	17: 46,960,036 (GRCm39)		probably null	Het
Mrpl48	T	C	7: 100,209,000 (GRCm39)	Y108C	probably damaging	Het
Ndufaf7	C	A	17: 79,246,044 (GRCm39)	F92L	probably damaging	Het
Or14c43	T	C	7: 86,115,383 (GRCm39)	Y255H	probably damaging	Het
Or6c8	T	A	10: 128,915,265 (GRCm39)	D189V	probably damaging	Het
Rec114	T	C	9: 58,567,624 (GRCm39)	S121G	probably benign	Het
Rnase10	A	T	14: 51,247,317 (GRCm39)	I195F	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rreb1	A	G	13: 38,133,087 (GRCm39)	E1754G	probably damaging	Het
Sec31a	G	T	5: 100,531,657 (GRCm39)	C238*	probably null	Het
Slc12a6	T	C	2: 112,169,724 (GRCm39)	V337A	probably damaging	Het
Slc25a37	A	G	14: 69,482,344 (GRCm39)	V319A	possibly damaging	Het
Slc26a10	T	C	10: 127,010,864 (GRCm39)	Y456C	probably benign	Het
Slc27a3	G	A	3: 90,294,382 (GRCm39)	T463I	probably benign	Het
Slc66a3	A	G	12: 17,043,315 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,524,149 (GRCm39)	D781E	probably benign	Het
Tle1	T	C	4: 72,057,208 (GRCm39)		probably benign	Het
Tmem229b-ps	T	C	10: 53,351,325 (GRCm39)		noncoding transcript	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r71	A	G	7: 85,268,622 (GRCm39)	D275G	probably benign	Het
Wdr1	T	C	5: 38,692,543 (GRCm39)	T121A	probably benign	Het
Zdhhc19	C	T	16: 32,325,869 (GRCm39)	R240C	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
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
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'- CAACCCCTTTGAGTGATTTAATAGC -3'
(R):5'- CATGCGTACACTAAAACAGCTG -3'

Sequencing Primer
(F):5'- AGCATACTCTTTTAGTTGGAAATGAC -3'
(R):5'- GCGTACACTAAAACAGCTGAAAAATC -3'

Posted On

2016-09-06