Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Atad2b'

188293

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4965899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 542 (V542I)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045664
AA Change: V542I

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: V542I

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	C	A	6: 40,929,519		probably benign	Het
4930402H24Rik	A	G	2: 130,814,273	V105A	probably damaging	Het
Abca17	A	C	17: 24,335,620	I120S	probably benign	Het
Abcb5	A	C	12: 118,965,329		probably benign	Het
Abcc4	T	A	14: 118,594,894	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568	Y270F	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ankib1	A	G	5: 3,706,301	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,874,880		probably null	Het
Asb17	C	T	3: 153,844,367	S12F	probably damaging	Het
Atxn7	T	C	14: 14,096,239	F515L	probably damaging	Het
Bicc1	A	G	10: 70,943,518	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,908,642	R351H	probably damaging	Het
C4b	A	G	17: 34,743,650	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802		probably null	Het
Capza1	G	T	3: 104,864,353	S9*	probably null	Het
Ccdc129	G	T	6: 55,968,514	C740F	probably benign	Het
Ccl11	C	T	11: 82,058,040	P25L	probably damaging	Het
Cdyl	A	T	13: 35,856,889	K306N	probably damaging	Het
Cnga3	T	C	1: 37,261,498	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,486,659	K983E	unknown	Het
Cp	A	C	3: 19,972,717	K436N	probably damaging	Het
Csmd1	T	A	8: 15,918,252	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,183,366	N143I	probably damaging	Het
Dmd	T	A	X: 84,974,762	I3067N	probably benign	Het
Dnah11	T	G	12: 117,933,845	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,467,532	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,665,662		probably null	Het
Efemp1	G	A	11: 28,916,942	E325K	probably benign	Het
Enox1	A	G	14: 77,577,656	T85A	probably benign	Het
Faim2	C	A	15: 99,520,336	V123F	possibly damaging	Het
Fgfr2	T	C	7: 130,228,620		probably null	Het
Fign	T	C	2: 63,980,374	E184G	probably damaging	Het
Fnd3c2	T	C	X: 106,237,699	T799A	probably benign	Het
Frem2	T	C	3: 53,519,938	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,986,345	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,416,983	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867	V139M	probably damaging	Het
Gpr83	G	T	9: 14,866,849	V172F	probably damaging	Het
Jmjd4	A	G	11: 59,453,612	Y179C	probably damaging	Het
Kcnq3	A	G	15: 66,031,432	L143P	probably damaging	Het
Klhl41	T	C	2: 69,670,939	V248A	probably benign	Het
Lama1	T	C	17: 67,810,155	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,483,686		probably null	Het
Lclat1	G	A	17: 73,196,720	G162R	probably damaging	Het
Map6	T	C	7: 99,268,098	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050	D107V	probably damaging	Het
Metap1d	T	A	2: 71,524,777	V304D	possibly damaging	Het
Naca	A	G	10: 128,043,526		probably benign	Het
Napg	T	C	18: 62,984,072		probably null	Het
Nbeal1	T	A	1: 60,260,334	F7L	probably benign	Het
Ndst2	T	C	14: 20,724,514	T825A	probably benign	Het
Nsun2	T	C	13: 69,627,103	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,436,210	I87F	probably damaging	Het
Nxf3	T	C	X: 136,075,521	D407G	probably damaging	Het
Olfr568	T	A	7: 102,877,663	V181E	probably damaging	Het
Olfr891	A	T	9: 38,180,637	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,336,213		probably null	Het
P2rx3	T	C	2: 85,022,467	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pcdhb9	A	T	18: 37,401,629	K225N	probably damaging	Het
Plch1	A	G	3: 63,740,694	S419P	probably damaging	Het
Prex2	T	G	1: 11,285,089	I1538S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,815	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,732,315	T754A	probably benign	Het
Rictor	T	C	15: 6,756,471	V156A	probably benign	Het
Ryr1	A	T	7: 29,116,154	Y104N	probably damaging	Het
Sctr	G	T	1: 120,036,439		probably null	Het
Sptbn2	T	C	19: 4,750,497	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,324,509	R384W	probably damaging	Het
Srcin1	C	A	11: 97,518,644	R1163L	probably damaging	Het
Srp72	A	G	5: 76,980,307	Y125C	probably damaging	Het
Srrm2	T	C	17: 23,818,986	S1535P	probably benign	Het
Sumf2	A	G	5: 129,854,716	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,215,556	I77F	probably benign	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tcp1	T	A	17: 12,920,423	N212K	probably benign	Het
Ttc7	G	T	17: 87,361,901	G659C	probably damaging	Het
Ttn	A	T	2: 76,861,559		probably null	Het
Ubtf	A	T	11: 102,308,978	D440E	probably benign	Het
Usp30	A	G	5: 114,121,146	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r58	G	A	7: 41,864,056	H388Y	probably benign	Het
Wdr60	A	G	12: 116,225,970	S640P	probably damaging	Het
Zbtb49	T	C	5: 38,213,694	D281G	probably damaging	Het
Zfp248	A	G	6: 118,429,804	S174P	probably benign	Het
Zswim9	T	C	7: 13,277,411	T4A	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
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'- TGGACAACACCAAGATTGCTCTCTG -3'
(R):5'- TCCTTCCTGCAAAGACATTGGCAC -3'

Sequencing Primer
(F):5'- GCTCTCTGCTAACAAATAGAGTACTG -3'
(R):5'- agaaagcaaagtgtggcaag -3'

Posted On

2014-05-09