Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:Atad2b'

714210

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5013859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 947 (S947T)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: S947T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: S947T

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
2810004N23Rik	T	C	8: 124,840,476	K229E	probably damaging	Het
4931409K22Rik	T	A	5: 24,549,449	I395F	probably benign	Het
9030624J02Rik	T	C	7: 118,752,895		probably null	Het
Abca8b	T	C	11: 109,969,104	T523A	probably damaging	Het
Adamts18	G	T	8: 113,764,310	D508E	probably benign	Het
Arap2	T	C	5: 62,698,419	E558G	probably benign	Het
Arid4a	A	T	12: 71,072,600	D331V		Het
Ash1l	A	T	3: 89,007,832	K1923M	possibly damaging	Het
B4galt1	A	T	4: 40,853,804	M1K	probably null	Het
BC025446	T	A	15: 75,220,725	C98S	probably damaging	Het
Ccpg1	G	A	9: 72,997,421	S4N	unknown	Het
Cfap43	A	T	19: 47,897,871	L102M	probably benign	Het
Clic6	T	C	16: 92,530,756	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,784,174	D245E	probably benign	Het
Cpsf7	G	A	19: 10,540,849		probably null	Het
Depdc5	A	G	5: 32,934,010	D721G	probably benign	Het
Dhx29	C	T	13: 112,947,328	T639I	possibly damaging	Het
Dock7	T	C	4: 98,973,189	E1397G	unknown	Het
Dsp	C	T	13: 38,192,403	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,285,544	G73D	probably damaging	Het
Ganab	A	G	19: 8,915,712	D960G	probably damaging	Het
Gm12394	G	T	4: 42,793,833	Q100K	probably benign	Het
Gria1	T	C	11: 57,309,789	V764A	probably damaging	Het
Grk3	T	C	5: 112,915,047	K645E	probably benign	Het
Hecw2	A	T	1: 53,839,029	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,426,833	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,473,002	N129K	possibly damaging	Het
Itgb4	T	C	11: 115,983,271	Y340H	probably damaging	Het
Itgb6	T	C	2: 60,628,028	I460M	probably benign	Het
Kat14	T	C	2: 144,400,819	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,238,010	D817E	probably benign	Het
Lamb2	T	A	9: 108,480,561	C94*	probably null	Het
Larp1	T	C	11: 58,051,064	S743P	probably damaging	Het
Ldlrap1	T	C	4: 134,747,179	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Ltf	T	C	9: 111,021,996	L92P	probably damaging	Het
Mns1	C	A	9: 72,452,608	Q347K	probably benign	Het
Myof	A	T	19: 37,960,926	F611I	probably damaging	Het
Nop56	T	C	2: 130,275,681	L76P	probably damaging	Het
Nphp1	T	C	2: 127,774,088	H114R		Het
Olfr1280	T	A	2: 111,316,053	N191K	probably benign	Het
Olfr1512	G	C	14: 52,372,653	Y133*	probably null	Het
Olfr390	C	A	11: 73,787,275	N112K	possibly damaging	Het
Park2	C	A	17: 11,838,634	H301N	possibly damaging	Het
Pcdha12	A	G	18: 37,020,939	D237G	probably damaging	Het
Pitpnm3	A	T	11: 72,061,586	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,954,855	V211I	probably damaging	Het
Prpf38a	A	T	4: 108,572,875	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,806,279	T1769A	probably benign	Het
Stab1	T	C	14: 31,162,939	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tnrc6b	T	A	15: 80,880,436	M713K	probably benign	Het
Top2a	T	C	11: 99,003,608	K966E	possibly damaging	Het
Vars2	T	C	17: 35,662,135	T421A	probably damaging	Het
Vmn1r1	A	T	1: 182,157,205	C298*	probably null	Het
Vwa3a	T	C	7: 120,804,030		probably null	Het
Vwa5b1	G	T	4: 138,588,629	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,395,488	K454E	probably damaging	Het
Zfp426	T	C	9: 20,470,281	H470R	probably benign	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5024593	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	4965837	unclassified	probably benign
IGL01011:Atad2b	APN	12	4965984	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5017987	missense	probably damaging	0.98
IGL01604:Atad2b	APN	12	4965837	unclassified	probably benign
IGL01924:Atad2b	APN	12	5034093	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5018056	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	4974046	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4941972	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5018037	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	4974003	nonsense	probably null
IGL02896:Atad2b	APN	12	4958151	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5006715	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5024628	missense	probably benign	0.24
Plyers	UTSW	12	4973970	missense	probably damaging	1.00
Smidge	UTSW	12	4990949	missense	probably damaging	1.00
Tensor	UTSW	12	4957558	missense	probably damaging	1.00
Traction	UTSW	12	5027182	critical splice donor site	probably null
Vice	UTSW	12	5018002	missense	probably damaging	1.00
K3955:Atad2b	UTSW	12	4954536	splice site	probably benign
P0038:Atad2b	UTSW	12	4954536	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5024587	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5031795	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4942030	missense	possibly damaging	0.81
R0006:Atad2b	UTSW	12	4942030	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	4952676	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4941973	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4945035	splice site	probably benign
R0617:Atad2b	UTSW	12	4937401	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	4965915	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5024591	missense	probably damaging	1.00
R0960:Atad2b	UTSW	12	5006593	splice site	probably benign
R0973:Atad2b	UTSW	12	5031784	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	4974239	missense	probably benign	0.08
R1530:Atad2b	UTSW	12	4942018	nonsense	probably null
R1678:Atad2b	UTSW	12	4965899	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5034575	nonsense	probably null
R1826:Atad2b	UTSW	12	4974094	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	4990883	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5006745	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5006745	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4942067	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4939689	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	4950595	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	4985710	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4940145	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4943223	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4943223	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	4954663	splice site	probably null
R4639:Atad2b	UTSW	12	5018053	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4944901	splice site	probably null
R4850:Atad2b	UTSW	12	4943251	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4943251	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5034513	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4937534	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	4965855	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4940098	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4917911	missense	probably benign	0.01
R5754:Atad2b	UTSW	12	5010351	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	4954593	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	4973970	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5018002	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	4957558	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	4952642	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	4990949	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5024668	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5017992	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5027105	nonsense	probably null
R7405:Atad2b	UTSW	12	4943232	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	4952660	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5010390	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5031726	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5027182	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	4974159	missense	possibly damaging	0.54
R8253:Atad2b	UTSW	12	4974160	missense	probably benign	0.02
R8708:Atad2b	UTSW	12	4961253	missense	probably damaging	1.00
R8894:Atad2b	UTSW	12	5014001	critical splice donor site	probably null
R8948:Atad2b	UTSW	12	4991012	missense	possibly damaging	0.87
R8976:Atad2b	UTSW	12	4917923	critical splice donor site	probably null
R9052:Atad2b	UTSW	12	4965982	missense	probably damaging	1.00
R9057:Atad2b	UTSW	12	5018102	nonsense	probably null
R9134:Atad2b	UTSW	12	5010351	missense	probably benign	0.01
R9453:Atad2b	UTSW	12	5031578	missense	probably benign	0.13
R9494:Atad2b	UTSW	12	5031852	missense	probably benign	0.26
R9634:Atad2b	UTSW	12	5010332	missense	probably damaging	1.00
R9764:Atad2b	UTSW	12	5032064	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGAACTAGCAGACCTGTTGTAC -3'
(R):5'- AACTTCACTGTTTGCACACTACTG -3'

Sequencing Primer
(F):5'- GCAGACCTGTTGTACATTACTTAGTG -3'
(R):5'- CTGTTTGCACACTACTGAAACAAG -3'

Posted On

2022-06-15