Mutagenetix > Incidental Mutation

Incidental Mutation 'R1826:Atad2b'

206823

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

039853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4974094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 73 (S73N)

Ref Sequence

ENSEMBL: ENSMUSP00000151695 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: S648N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: S648N

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
AA Change: S73N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

95% (116/122)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,822,014	S917P	probably benign	Het
Acsbg1	C	T	9: 54,622,556	V256M	possibly damaging	Het
Adam34	T	A	8: 43,651,342	D422V	probably damaging	Het
Adam6a	T	A	12: 113,546,122	V705E	possibly damaging	Het
Adamts12	C	A	15: 11,071,520	P50Q	probably benign	Het
Arfgap3	C	T	15: 83,303,102		probably null	Het
Aspg	T	A	12: 112,123,418	D463E	probably damaging	Het
Atp11a	T	C	8: 12,846,154	L788P	probably damaging	Het
B3gnt8	T	C	7: 25,628,763	F206S	probably damaging	Het
Baz2b	T	C	2: 59,968,733	E349G	probably benign	Het
Bmp2k	A	T	5: 97,061,402		probably benign	Het
Camta2	A	G	11: 70,683,308	F128L	probably damaging	Het
Ccdc88a	A	T	11: 29,489,637	Q30L	possibly damaging	Het
Cdh1	T	C	8: 106,666,266	M794T	probably benign	Het
Cdh5	A	G	8: 104,131,091	N383S	possibly damaging	Het
Cep85l	T	C	10: 53,348,812	D227G	possibly damaging	Het
Clec4e	A	G	6: 123,283,632	S156P	probably damaging	Het
Col10a1	G	T	10: 34,394,649	G206C	probably damaging	Het
Col4a2	T	C	8: 11,313,509		probably null	Het
Copg2	A	G	6: 30,812,842	M517T	probably benign	Het
Cyp2f2	T	A	7: 27,132,562	L414Q	probably damaging	Het
Dact1	G	A	12: 71,318,344	G596D	probably damaging	Het
Dcaf13	T	C	15: 39,118,899	C87R	probably damaging	Het
Dchs1	T	G	7: 105,757,627	T2224P	probably damaging	Het
Dnah12	A	G	14: 26,711,019	M429V	probably benign	Het
Dppa2	G	A	16: 48,317,348	R231H	probably damaging	Het
Elavl4	T	C	4: 110,251,292	D78G	probably damaging	Het
Enthd1	T	C	15: 80,474,281	E346G	probably damaging	Het
Exoc3l	A	T	8: 105,293,618	I225N	probably damaging	Het
Fam208b	T	A	13: 3,581,759	N914I	probably damaging	Het
Fasn	C	T	11: 120,808,499		probably benign	Het
Fbxl7	G	A	15: 26,552,765	R139C	possibly damaging	Het
Fbxw15	C	A	9: 109,559,714		probably null	Het
Flnc	A	G	6: 29,455,185	T1971A	probably damaging	Het
Fnip1	T	G	11: 54,466,164	V33G	probably damaging	Het
Foxn2	A	G	17: 88,486,805	E390G	possibly damaging	Het
Fry	C	T	5: 150,436,709	S1940L	possibly damaging	Het
Fzd3	A	T	14: 65,253,106	D9E	probably benign	Het
Gabrd	T	C	4: 155,386,486	Y255C	probably damaging	Het
Garem1	A	T	18: 21,129,452	F768L	probably benign	Het
Gas2	T	A	7: 51,943,673	L167Q	probably damaging	Het
Gm16391	A	G	17: 76,284,423		noncoding transcript	Het
Gm1979	A	T	5: 26,001,242	N113K	probably damaging	Het
Gm5751	T	A	X: 8,880,705	Y133*	probably null	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Hdac4	T	A	1: 91,984,699	N352Y	probably damaging	Het
Hdac9	A	G	12: 34,429,492		probably benign	Het
Hhipl2	G	A	1: 183,436,344	S673N	probably benign	Het
Iffo2	T	A	4: 139,614,065	S417T	probably benign	Het
Itgb5	G	T	16: 33,865,560	R90L	possibly damaging	Het
Jade1	T	G	3: 41,613,213	L572W	probably damaging	Het
Kcnh1	T	A	1: 192,413,068	M478K	possibly damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kcnq4	T	A	4: 120,704,504	H456L	probably benign	Het
Kif9	C	A	9: 110,517,633	T613K	probably benign	Het
Krt36	T	G	11: 100,103,030		probably benign	Het
Kyat3	A	T	3: 142,723,179	D89V	possibly damaging	Het
Lnpep	A	T	17: 17,562,836	F568I	probably damaging	Het
Lpl	T	C	8: 68,902,291	F444L	possibly damaging	Het
Lrp1	A	T	10: 127,553,707	V3153E	probably damaging	Het
Lrrn1	A	T	6: 107,567,568	N109I	probably benign	Het
Ltn1	A	G	16: 87,415,616	Y686H	probably damaging	Het
Mcoln2	A	C	3: 146,175,472	D166A	possibly damaging	Het
Ms4a6b	A	T	19: 11,523,934	I103F	probably damaging	Het
Mtmr10	T	G	7: 64,337,466	S585A	probably benign	Het
Mx1	T	C	16: 97,455,637	N114S	possibly damaging	Het
Mysm1	A	T	4: 94,970,686	N75K	probably benign	Het
Nkx1-1	A	G	5: 33,433,933	V15A	unknown	Het
Nlrp1a	T	A	11: 71,107,980		probably benign	Het
Nlrp1a	G	A	11: 71,122,747	T559I	possibly damaging	Het
Oas1f	A	G	5: 120,855,589	K288R	probably benign	Het
Olfr1494	T	A	19: 13,749,347	D80E	probably benign	Het
Olfr311	T	A	11: 58,841,431	C106S	probably benign	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Pcdhb2	T	A	18: 37,295,985	V337D	probably damaging	Het
Pcdhb5	C	T	18: 37,321,469	R301*	probably null	Het
Phf12	T	C	11: 78,024,954		probably benign	Het
Pik3c2a	C	T	7: 116,368,117	D862N	probably benign	Het
Pkhd1l1	T	A	15: 44,503,345	L740I	possibly damaging	Het
Ppp1r9a	A	T	6: 5,111,060		probably benign	Het
Prg4	T	C	1: 150,452,009	D820G	probably benign	Het
Prmt9	C	T	8: 77,555,674	Q67*	probably null	Het
Prob1	T	C	18: 35,653,575	E542G	possibly damaging	Het
Pttg1	A	G	11: 43,420,366	V188A	probably damaging	Het
Rassf1	T	A	9: 107,558,193	L260H	probably damaging	Het
Rbm5	T	A	9: 107,742,414	Q766L	probably damaging	Het
Rbms3	T	A	9: 116,822,868	Y137F	probably damaging	Het
Rccd1	T	C	7: 80,320,218		probably benign	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Setd4	T	A	16: 93,591,299	K100*	probably null	Het
Simc1	T	A	13: 54,524,639	C267S	probably benign	Het
Slc16a1	G	T	3: 104,650,939	A91S	probably benign	Het
Slc36a1	A	G	11: 55,220,453	N133S	probably benign	Het
Svil	C	T	18: 5,063,383	P885S	probably benign	Het
Svop	A	T	5: 114,060,056		probably null	Het
Taar7d	T	C	10: 24,027,576	Y119H	probably damaging	Het
Tgfb3	T	C	12: 86,062,044	T304A	probably benign	Het
Tmem94	C	A	11: 115,793,213	C786*	probably null	Het
Tnfrsf4	T	A	4: 156,016,279		probably null	Het
Tns1	C	A	1: 73,953,634	M1I	probably null	Het
Trappc13	C	T	13: 104,169,819		probably null	Het
Trim72	T	C	7: 128,007,844	F182L	possibly damaging	Het
Ttc6	T	C	12: 57,660,247	S647P	probably benign	Het
Tulp1	A	G	17: 28,356,367	L400P	possibly damaging	Het
Vegfc	C	T	8: 54,181,312	T342M	possibly damaging	Het
Vit	T	A	17: 78,534,676	V15E	probably benign	Het
Vps13d	A	T	4: 145,155,003	M1334K	probably damaging	Het
Zfp280d	T	C	9: 72,298,780	V23A	probably damaging	Het
Zfp608	A	G	18: 54,898,576	I764T	probably benign	Het
Zfp94	T	C	7: 24,309,115	Y33C	probably damaging	Het
Zfyve26	T	A	12: 79,269,049	I1218F	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
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'- AAGCTGTGCATCGCAGTCAG -3'
(R):5'- ACTCTGGCTAGTTTCTGCATG -3'

Sequencing Primer
(F):5'- CAGTCAGTGGTTTTTGACACAC -3'
(R):5'- TCCTGAAGACATCACAGC -3'

Posted On

2014-06-23