Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:Atad2b'

555264

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4431001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5031795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1235 (T1235A)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045664
AA Change: T1235A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: T1235A

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

Coding Region Coverage

1x: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,502,512	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,363,924	C357F	probably damaging	Het
Actr1a	A	T	19: 46,382,292		probably null	Het
Adcy1	C	G	11: 7,064,089	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,561,611	S1176R	possibly damaging	Het
Atp8a2	T	C	14: 59,654,626	D1091G	probably benign	Het
Bmp6	T	C	13: 38,485,930	S397P	probably benign	Het
C3	A	T	17: 57,206,242	N1468K	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,579,707		probably benign	Het
Ccr1	T	C	9: 123,964,194	I100V	probably benign	Het
Cep162	T	A	9: 87,244,345	R171S	probably benign	Het
Chd8	T	C	14: 52,218,249	H994R	probably damaging	Het
Cntn3	T	A	6: 102,464,566	K6N	probably benign	Het
Cope	A	G	8: 70,312,767	E289G	probably damaging	Het
Cpne8	T	G	15: 90,551,975	E279A	probably damaging	Het
Cyp11a1	A	T	9: 58,016,272		probably null	Het
Dcp2	A	G	18: 44,412,571	K333R	probably benign	Het
Dpp6	G	T	5: 27,631,498	V329F	probably benign	Het
Drc1	T	A	5: 30,347,073	D186E	probably damaging	Het
Dsc2	G	A	18: 20,046,277	Q245*	probably null	Het
Eef1e1	T	C	13: 38,658,962	E11G	probably damaging	Het
Emilin2	G	A	17: 71,255,995	P915S	probably benign	Het
Fam214b	C	A	4: 43,036,024	G236C	probably damaging	Het
Fpgt	A	G	3: 155,086,785	M535T	possibly damaging	Het
Fxyd3	G	A	7: 31,071,355	L37F	probably damaging	Het
Gal3st2c	T	A	1: 94,008,112	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,766,475	I2T	probably benign	Het
Gm9611	T	C	14: 42,293,931	M169V		Het
Ints3	G	A	3: 90,396,460	T720I	probably damaging	Het
Itpr2	T	G	6: 146,354,720	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,676,307	H256Q	probably benign	Het
Lama2	T	C	10: 27,101,430	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,434,131	G442D	probably damaging	Het
Lrp1b	C	T	2: 41,004,755	V2268M		Het
Macc1	T	C	12: 119,446,511	L338P	probably benign	Het
Mtmr2	T	C	9: 13,793,179	F201L	probably benign	Het
Mtr	C	T	13: 12,212,443	V772M	probably damaging	Het
Mtus2	A	G	5: 148,076,705	T103A	probably benign	Het
Myo5c	A	G	9: 75,252,571	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,798,693	F13I	probably benign	Het
Olfr1248	T	C	2: 89,617,857	I112V	probably benign	Het
Paqr6	A	T	3: 88,365,777	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,501,897	V271G	probably damaging	Het
Pde7b	T	C	10: 20,400,545	H405R	possibly damaging	Het
Plxnb1	A	G	9: 109,100,718	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,151,241	F101L	probably benign	Het
Pold1	A	G	7: 44,538,894	L520P	probably damaging	Het
Pramel1	A	G	4: 143,398,390	T295A	possibly damaging	Het
Psg20	A	T	7: 18,674,550	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,340,019	R71*	probably null	Het
Ptgs1	A	T	2: 36,240,680	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,495,221	D333G	probably damaging	Het
Rfx7	T	A	9: 72,617,971	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,397,397		probably benign	Het
Serpina3i	A	T	12: 104,265,173	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,396,516	V860E	probably benign	Het
Slc12a1	T	A	2: 125,190,204	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 103,050,268	F120S	probably damaging	Het
Smyd4	T	C	11: 75,403,513	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,923,476	Y242C	probably damaging	Het
Sqle	A	G	15: 59,323,660	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,845,074	S246P	probably benign	Het
Tenm3	G	A	8: 48,235,607	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 128,249,181	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,059,978	N279K	probably benign	Het
Tmed5	T	A	5: 108,130,021	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,182,024	L443P	probably damaging	Het
Ttc38	C	A	15: 85,836,127	Q97K	probably benign	Het
Unc13c	C	A	9: 73,749,547	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,676,696	T102A	possibly damaging	Het
Vwce	G	A	19: 10,664,582	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,934,345	S394T	possibly damaging	Het
Zan	C	T	5: 137,392,064	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,259,192	F1122L	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
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
R9450:Atad2b	UTSW	12	5013859	missense	probably benign	0.06
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'- CTATGACCATACAGAGGACAGG -3'
(R):5'- ACTTTTCTCCACCATCAGGCAG -3'

Sequencing Primer
(F):5'- CCATACAGAGGACAGGAAGTTGC -3'
(R):5'- GCAGAGGAACTACTTCAAGAACTCTG -3'

Posted On

2019-06-07