Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Atad2b'

669391

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

D530031C13Rik, 1110014E10Rik

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4917353-5047394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4961253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 504 (D504E)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably damaging
Transcript: ENSMUST00000045664
AA Change: D504E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: D504E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480 (GRCm38)	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369 (GRCm38)	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113 (GRCm38)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930 (GRCm38)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291 (GRCm38)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088 (GRCm38)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412 (GRCm38)	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834 (GRCm38)	D1787E	unknown	Het
Atg2b	T	A	12: 105,669,428 (GRCm38)		probably benign	Het
Bptf	T	A	11: 107,073,314 (GRCm38)	S1685C	probably damaging	Het
Bptf	C	A	11: 107,073,313 (GRCm38)	S1685I	probably damaging	Het
Cacna1c	A	T	6: 118,627,455 (GRCm38)	I1437N		Het
Capn1	T	C	19: 6,011,298 (GRCm38)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117 (GRCm38)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614 (GRCm38)	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580 (GRCm38)		probably null	Het
Ckap5	T	A	2: 91,595,478 (GRCm38)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265 (GRCm38)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801 (GRCm38)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742 (GRCm38)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445 (GRCm38)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292 (GRCm38)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280 (GRCm38)	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371 (GRCm38)	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300 (GRCm38)		probably benign	Het
Exph5	T	A	9: 53,375,796 (GRCm38)	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763 (GRCm38)	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853 (GRCm38)	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212 (GRCm38)	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562 (GRCm38)	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965 (GRCm38)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897 (GRCm38)	C156S		Het
Gm6904	A	T	14: 59,244,813 (GRCm38)	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802 (GRCm38)	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855 (GRCm38)	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935 (GRCm38)	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640 (GRCm38)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335 (GRCm38)	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932 (GRCm38)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm38)		probably null	Het
Itpa	T	A	2: 130,675,719 (GRCm38)	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342 (GRCm38)	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859 (GRCm38)	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391 (GRCm38)		probably benign	Het
Lasp1	A	G	11: 97,806,883 (GRCm38)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763 (GRCm38)	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613 (GRCm38)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809 (GRCm38)	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521 (GRCm38)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm38)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330 (GRCm38)	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542 (GRCm38)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm38)	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422 (GRCm38)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384 (GRCm38)	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796 (GRCm38)		probably benign	Het
Naca	A	T	10: 128,048,074 (GRCm38)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915 (GRCm38)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604 (GRCm38)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773 (GRCm38)		probably null	Het
Olfr1245	C	A	2: 89,575,279 (GRCm38)	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037 (GRCm38)	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944 (GRCm38)	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809 (GRCm38)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197 (GRCm38)	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381 (GRCm38)	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999 (GRCm38)	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533 (GRCm38)	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015 (GRCm38)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553 (GRCm38)		probably benign	Het
Plekhh2	A	T	17: 84,574,993 (GRCm38)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm38)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639 (GRCm38)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866 (GRCm38)	H398R	unknown	Het
Rab26	A	T	17: 24,529,798 (GRCm38)	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864 (GRCm38)		probably benign	Het
Radil	A	G	5: 142,485,449 (GRCm38)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416 (GRCm38)	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855 (GRCm38)	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667 (GRCm38)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537 (GRCm38)	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872 (GRCm38)	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952 (GRCm38)	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662 (GRCm38)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651 (GRCm38)	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806 (GRCm38)	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578 (GRCm38)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm38)		probably benign	Het
Tmco3	A	G	8: 13,295,998 (GRCm38)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398 (GRCm38)		probably benign	Het
Trio	T	A	15: 27,732,546 (GRCm38)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090 (GRCm38)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483 (GRCm38)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040 (GRCm38)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425 (GRCm38)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268 (GRCm38)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532 (GRCm38)	V3016L		Het
Wdr11	A	G	7: 129,599,056 (GRCm38)	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092 (GRCm38)		probably benign	Het
Wrn	T	A	8: 33,292,643 (GRCm38)	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277 (GRCm38)		probably null	Het
Zfat	T	A	15: 68,084,429 (GRCm38)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052 (GRCm38)	S62A	probably benign	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5,024,593 (GRCm38)	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	4,965,837 (GRCm38)	unclassified	probably benign
IGL01011:Atad2b	APN	12	4,965,984 (GRCm38)	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5,017,987 (GRCm38)	missense	probably damaging	0.98
IGL01604:Atad2b	APN	12	4,965,837 (GRCm38)	unclassified	probably benign
IGL01924:Atad2b	APN	12	5,034,093 (GRCm38)	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5,018,056 (GRCm38)	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	4,974,046 (GRCm38)	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4,941,972 (GRCm38)	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5,018,037 (GRCm38)	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	4,974,003 (GRCm38)	nonsense	probably null
IGL02896:Atad2b	APN	12	4,958,151 (GRCm38)	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5,006,715 (GRCm38)	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5,024,628 (GRCm38)	missense	probably benign	0.24
Plyers	UTSW	12	4,973,970 (GRCm38)	missense	probably damaging	1.00
Smidge	UTSW	12	4,990,949 (GRCm38)	missense	probably damaging	1.00
Tensor	UTSW	12	4,957,558 (GRCm38)	missense	probably damaging	1.00
Traction	UTSW	12	5,027,182 (GRCm38)	critical splice donor site	probably null
Vice	UTSW	12	5,018,002 (GRCm38)	missense	probably damaging	1.00
K3955:Atad2b	UTSW	12	4,954,536 (GRCm38)	splice site	probably benign
P0038:Atad2b	UTSW	12	4,954,536 (GRCm38)	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5,024,587 (GRCm38)	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5,031,795 (GRCm38)	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4,942,030 (GRCm38)	missense	possibly damaging	0.81
R0006:Atad2b	UTSW	12	4,942,030 (GRCm38)	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	4,952,676 (GRCm38)	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4,941,973 (GRCm38)	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4,945,035 (GRCm38)	splice site	probably benign
R0617:Atad2b	UTSW	12	4,937,401 (GRCm38)	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	4,965,915 (GRCm38)	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5,024,591 (GRCm38)	missense	probably damaging	1.00
R0960:Atad2b	UTSW	12	5,006,593 (GRCm38)	splice site	probably benign
R0973:Atad2b	UTSW	12	5,031,784 (GRCm38)	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	4,974,239 (GRCm38)	missense	probably benign	0.08
R1530:Atad2b	UTSW	12	4,942,018 (GRCm38)	nonsense	probably null
R1678:Atad2b	UTSW	12	4,965,899 (GRCm38)	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5,034,575 (GRCm38)	nonsense	probably null
R1826:Atad2b	UTSW	12	4,974,094 (GRCm38)	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	4,990,883 (GRCm38)	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5,006,745 (GRCm38)	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5,006,745 (GRCm38)	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4,942,067 (GRCm38)	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4,939,689 (GRCm38)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,939,689 (GRCm38)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,939,689 (GRCm38)	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	4,950,595 (GRCm38)	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	4,985,710 (GRCm38)	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4,940,145 (GRCm38)	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4,943,223 (GRCm38)	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4,943,223 (GRCm38)	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	4,954,663 (GRCm38)	splice site	probably null
R4639:Atad2b	UTSW	12	5,018,053 (GRCm38)	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4,944,901 (GRCm38)	splice site	probably null
R4850:Atad2b	UTSW	12	4,943,251 (GRCm38)	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4,943,251 (GRCm38)	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5,034,513 (GRCm38)	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4,937,534 (GRCm38)	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	4,965,855 (GRCm38)	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4,940,098 (GRCm38)	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4,917,911 (GRCm38)	missense	probably benign	0.01
R5754:Atad2b	UTSW	12	5,010,351 (GRCm38)	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	4,954,593 (GRCm38)	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	4,973,970 (GRCm38)	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5,018,002 (GRCm38)	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	4,957,558 (GRCm38)	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	4,952,642 (GRCm38)	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	4,990,949 (GRCm38)	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5,024,668 (GRCm38)	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5,017,992 (GRCm38)	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5,027,105 (GRCm38)	nonsense	probably null
R7405:Atad2b	UTSW	12	4,943,232 (GRCm38)	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	4,952,660 (GRCm38)	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5,010,390 (GRCm38)	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5,031,726 (GRCm38)	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5,027,182 (GRCm38)	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	4,974,160 (GRCm38)	missense	probably benign	0.02
R8253:Atad2b	UTSW	12	4,974,159 (GRCm38)	missense	possibly damaging	0.54
R8894:Atad2b	UTSW	12	5,014,001 (GRCm38)	critical splice donor site	probably null
R8948:Atad2b	UTSW	12	4,991,012 (GRCm38)	missense	possibly damaging	0.87
R8976:Atad2b	UTSW	12	4,917,923 (GRCm38)	critical splice donor site	probably null
R9052:Atad2b	UTSW	12	4,965,982 (GRCm38)	missense	probably damaging	1.00
R9057:Atad2b	UTSW	12	5,018,102 (GRCm38)	nonsense	probably null
R9134:Atad2b	UTSW	12	5,010,351 (GRCm38)	missense	probably benign	0.01
R9450:Atad2b	UTSW	12	5,013,859 (GRCm38)	missense	probably benign	0.06
R9453:Atad2b	UTSW	12	5,031,578 (GRCm38)	missense	probably benign	0.13
R9494:Atad2b	UTSW	12	5,031,852 (GRCm38)	missense	probably benign	0.26
R9634:Atad2b	UTSW	12	5,010,332 (GRCm38)	missense	probably damaging	1.00
R9764:Atad2b	UTSW	12	5,032,064 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACGCACTCAACTATATTCCTCAGC -3'
(R):5'- GGCAGCCAAATTGCTACAGAC -3'

Sequencing Primer
(F):5'- AGCCCTACTGTGTGCTTTTAAATAC -3'
(R):5'- CCTGTGTTGAATGAAAGTAACTCAGG -3'

Posted On

2021-04-30