Mutagenetix > Incidental Mutations

Incidental Mutation 'R6374:Atad2b'

513712

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5018002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1000 (V1000A)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably damaging
Transcript: ENSMUST00000045664
AA Change: V1000A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: V1000A

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

Meta Mutation Damage Score

0.4356

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,472,880	S293A	possibly damaging	Het
4932415D10Rik	T	A	10: 82,288,897		probably benign	Het
5430401F13Rik	A	T	6: 131,552,929	Q162L	unknown	Het
Abca8a	A	T	11: 110,083,390	Y239*	probably null	Het
Aox3	T	C	1: 58,172,161	I959T	probably benign	Het
Atic	C	T	1: 71,564,941	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,289,375	R225H	probably damaging	Het
BC024139	A	G	15: 76,120,457		probably null	Het
Bpi	A	T	2: 158,272,054	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,549,746	Q556*	probably null	Het
Cd3e	G	A	9: 45,009,363	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,847,449	R31S	probably damaging	Het
Cyp21a1	G	T	17: 34,804,136		probably null	Het
Dnase1l3	A	G	14: 7,974,115	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,924,045	H330Q	possibly damaging	Het
Enah	T	C	1: 181,923,580	E232G	unknown	Het
Etnppl	C	T	3: 130,620,693	T73I	probably damaging	Het
Fam83b	T	A	9: 76,492,907	I305F	probably benign	Het
Galnt15	T	A	14: 32,058,159	I471N	probably damaging	Het
Gm19965	T	A	1: 116,822,291	N567K	probably benign	Het
Golga1	T	C	2: 39,034,068	Q435R	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Hao1	T	G	2: 134,523,104	D201A	probably benign	Het
Heg1	T	C	16: 33,727,129	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,049,874	C238S	possibly damaging	Het
Hrg	A	G	16: 22,960,992	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,738,237	I411F	probably damaging	Het
Myo1a	T	C	10: 127,707,680	Y202H	probably damaging	Het
Nags	T	C	11: 102,146,511	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,421,156	N453D	probably damaging	Het
Nup35	G	T	2: 80,658,386	M322I	probably benign	Het
Olfr620	A	G	7: 103,611,921	L144P	probably benign	Het
Oprl1	T	C	2: 181,715,928	V69A	probably damaging	Het
Pappa2	T	A	1: 158,956,645	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,980,155	P343L	possibly damaging	Het
Peak1	C	A	9: 56,257,666	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,736,932	Y1383C	probably damaging	Het
Ppme1	A	G	7: 100,341,065	S226P	probably damaging	Het
Prom1	C	T	5: 44,055,983	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,732,569		probably null	Het
Reln	T	C	5: 22,080,714	E419G	probably benign	Het
Rnf32	C	T	5: 29,225,268	Q362*	probably null	Het
Sbspon	T	C	1: 15,883,663	D131G	probably benign	Het
Scyl3	T	C	1: 163,949,214	S392P	probably benign	Het
Shtn1	T	A	19: 59,038,296	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,117,481	T1042A	probably benign	Het
Sipa1l2	A	T	8: 125,444,630	V1371D	probably damaging	Het
Slc20a2	T	C	8: 22,565,652	V584A	possibly damaging	Het
Smc6	T	A	12: 11,305,873		probably null	Het
Specc1	C	T	11: 62,156,592	T849I	possibly damaging	Het
Spta1	T	A	1: 174,214,168	L1368H	probably damaging	Het
Sqle	A	G	15: 59,316,110	E89G	possibly damaging	Het
Strbp	A	G	2: 37,603,008	V422A	probably damaging	Het
Sult6b1	G	T	17: 78,906,931	T21K	probably benign	Het
Tex15	A	G	8: 33,575,912	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,785,764		probably benign	Het
Traf3ip3	T	C	1: 193,182,010	D355G	possibly damaging	Het
Trim24	T	A	6: 37,953,549	V576E	probably benign	Het
Trim30c	C	T	7: 104,390,402	G62D	probably benign	Het
Trim66	T	G	7: 109,486,062	K100N	probably benign	Het
Tsnaxip1	A	T	8: 105,841,540	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,242,420	I389N	probably damaging	Het
Unc13a	C	T	8: 71,641,453	V1335M	possibly damaging	Het
Urah	A	G	7: 140,835,211	T5A	probably benign	Het
Usp34	T	C	11: 23,438,914	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,856,310	S643P	probably benign	Het
Vars2	A	G	17: 35,660,045	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,053,813	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,615,493	V721F	probably damaging	Het
Vmn2r79	T	C	7: 87,002,290	I299T	probably benign	Het
Vps13d	T	C	4: 145,122,681	T2387A	probably damaging	Het
Washc5	A	T	15: 59,337,195	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,950,368	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,244,035	T774A	probably damaging	Het
Zfp534	T	C	4: 147,674,842	I457V	probably benign	Het
Zfp964	T	C	8: 69,659,344	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,511,702	F202L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CGTCTGTTTCAGAGGTCAGG -3'
(R):5'- GGCTTTAATGTCGCCACAG -3'

Sequencing Primer
(F):5'- CAGGATGAGCACCATGAAGCTTTTC -3'
(R):5'- AATGTCGCCACAGTGTCC -3'

Posted On

2018-04-27