Mutagenetix > Incidental Mutation

Incidental Mutation 'R5754:Atad2b'

444961

Institutional Source

Beutler Lab

Gene Symbol

Atad2b

Ensembl Gene

ENSMUSG00000052812

Gene Name

ATPase family, AAA domain containing 2B

Synonyms

1110014E10Rik, D530031C13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4967353-5097394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5060351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 915 (H915Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047445 (fasta)

Gene Model

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

AlphaFold

E9Q166

Predicted Effect

probably benign
Transcript: ENSMUST00000045664
AA Change: H915Q

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: H915Q

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,984,320 (GRCm39)	N683K	probably benign	Het
Bltp2	T	C	11: 78,160,367 (GRCm39)	S609P	probably damaging	Het
Camk1d	G	T	2: 5,449,908 (GRCm39)	P91Q	probably benign	Het
Camk1d	G	C	2: 5,449,910 (GRCm39)	S90R	probably damaging	Het
Card11	T	C	5: 140,885,524 (GRCm39)	E345G	probably damaging	Het
Ccpg1	G	T	9: 72,920,526 (GRCm39)	V714L	possibly damaging	Het
Chst9	T	C	18: 15,586,254 (GRCm39)	E103G	possibly damaging	Het
Cnga1	C	T	5: 72,762,615 (GRCm39)	V300I	probably benign	Het
Crb1	T	C	1: 139,159,337 (GRCm39)	Y1295C	probably damaging	Het
Dnah5	A	G	15: 28,402,014 (GRCm39)	T3392A	probably benign	Het
Elp3	C	A	14: 65,785,439 (GRCm39)	R473L	probably damaging	Het
Epgn	T	A	5: 91,181,807 (GRCm39)	I145N	probably benign	Het
Fam107b	G	A	2: 3,779,457 (GRCm39)	G220D	probably damaging	Het
Fbn2	A	G	18: 58,257,383 (GRCm39)	V328A	probably benign	Het
Fn1	A	T	1: 71,639,481 (GRCm39)	I1770N	probably damaging	Het
Fndc1	T	A	17: 7,988,585 (GRCm39)	Y1159F	unknown	Het
Frem2	A	G	3: 53,444,679 (GRCm39)	L2484P	probably damaging	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf3c1	A	T	7: 125,243,237 (GRCm39)	V1789D	possibly damaging	Het
Hmgcl	T	C	4: 135,677,898 (GRCm39)	V33A	probably damaging	Het
Ighv7-1	A	G	12: 113,860,239 (GRCm39)	F51S	probably damaging	Het
Kcna6	A	G	6: 126,716,688 (GRCm39)	L67P	probably damaging	Het
Lamc1	A	T	1: 153,123,030 (GRCm39)	V720E	probably benign	Het
Lrch1	T	C	14: 75,054,558 (GRCm39)	D312G	probably damaging	Het
Mix23	A	G	16: 35,905,427 (GRCm39)	N63S	probably benign	Het
Nav2	A	G	7: 49,206,794 (GRCm39)	T1540A	probably damaging	Het
Nisch	A	T	14: 30,913,373 (GRCm39)		probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Npc1l1	A	G	11: 6,177,839 (GRCm39)	Y524H	probably damaging	Het
Nrap	T	C	19: 56,377,916 (GRCm39)	T25A	possibly damaging	Het
Nusap1	A	G	2: 119,477,580 (GRCm39)	K363R	probably damaging	Het
Or5ar1	T	C	2: 85,671,656 (GRCm39)	T160A	probably damaging	Het
Or5b124	A	G	19: 13,611,357 (GRCm39)	E294G	probably damaging	Het
Or7e177	T	A	9: 20,212,390 (GRCm39)	L298Q	probably damaging	Het
Pde4d	T	C	13: 110,074,547 (GRCm39)	I384T	probably damaging	Het
Pkhd1	T	A	1: 20,593,875 (GRCm39)	R1413*	probably null	Het
Plcd3	T	A	11: 102,964,592 (GRCm39)	Y593F	possibly damaging	Het
Plxna1	A	T	6: 89,310,087 (GRCm39)	I1026N	possibly damaging	Het
Podxl	T	A	6: 31,501,329 (GRCm39)	I409F	probably damaging	Het
Polq	A	C	16: 36,837,625 (GRCm39)	Q179P	probably benign	Het
Pomt1	T	C	2: 32,137,602 (GRCm39)	V401A	probably damaging	Het
Qdpr	C	T	5: 45,596,727 (GRCm39)	G146S	probably damaging	Het
Shc4	T	A	2: 125,512,218 (GRCm39)	Q2L	probably damaging	Het
Skint8	T	A	4: 111,807,387 (GRCm39)	C358S	probably benign	Het
Smc5	T	C	19: 23,221,467 (GRCm39)	E354G	possibly damaging	Het
Snx30	T	C	4: 59,868,275 (GRCm39)	V129A	probably damaging	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spag6	T	A	2: 18,703,613 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,763,036 (GRCm39)	Y450N	probably benign	Het
Trip11	C	T	12: 101,851,924 (GRCm39)	W428*	probably null	Het
Umodl1	T	A	17: 31,213,761 (GRCm39)	V966E	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r72	T	C	7: 11,403,776 (GRCm39)	Y224C	probably damaging	Het
Whrn	A	G	4: 63,334,825 (GRCm39)	S748P	probably damaging	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,526,964 (GRCm39)	F954L	probably damaging	Het
Zfp456	A	T	13: 67,514,359 (GRCm39)	I449K	probably benign	Het

Other mutations in Atad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Atad2b	APN	12	5,074,593 (GRCm39)	missense	probably damaging	1.00
IGL00917:Atad2b	APN	12	5,015,837 (GRCm39)	unclassified	probably benign
IGL01011:Atad2b	APN	12	5,015,984 (GRCm39)	missense	probably benign	0.01
IGL01092:Atad2b	APN	12	5,067,987 (GRCm39)	missense	probably damaging	0.98
IGL01604:Atad2b	APN	12	5,015,837 (GRCm39)	unclassified	probably benign
IGL01924:Atad2b	APN	12	5,084,093 (GRCm39)	missense	probably damaging	1.00
IGL02197:Atad2b	APN	12	5,068,056 (GRCm39)	missense	possibly damaging	0.84
IGL02397:Atad2b	APN	12	5,024,046 (GRCm39)	missense	probably damaging	1.00
IGL02404:Atad2b	APN	12	4,991,972 (GRCm39)	missense	probably benign	0.08
IGL02517:Atad2b	APN	12	5,068,037 (GRCm39)	missense	probably benign	0.07
IGL02726:Atad2b	APN	12	5,024,003 (GRCm39)	nonsense	probably null
IGL02896:Atad2b	APN	12	5,008,151 (GRCm39)	missense	probably damaging	1.00
IGL03227:Atad2b	APN	12	5,056,715 (GRCm39)	missense	probably damaging	1.00
IGL03265:Atad2b	APN	12	5,074,628 (GRCm39)	missense	probably benign	0.24
Plyers	UTSW	12	5,023,970 (GRCm39)	missense	probably damaging	1.00
Smidge	UTSW	12	5,040,949 (GRCm39)	missense	probably damaging	1.00
Tensor	UTSW	12	5,007,558 (GRCm39)	missense	probably damaging	1.00
Traction	UTSW	12	5,077,182 (GRCm39)	critical splice donor site	probably null
Vice	UTSW	12	5,068,002 (GRCm39)	missense	probably damaging	1.00
K3955:Atad2b	UTSW	12	5,004,536 (GRCm39)	splice site	probably benign
P0038:Atad2b	UTSW	12	5,004,536 (GRCm39)	splice site	probably benign
PIT4418001:Atad2b	UTSW	12	5,074,587 (GRCm39)	missense	probably benign	0.07
PIT4431001:Atad2b	UTSW	12	5,081,795 (GRCm39)	missense	possibly damaging	0.77
R0006:Atad2b	UTSW	12	4,992,030 (GRCm39)	missense	possibly damaging	0.81
R0006:Atad2b	UTSW	12	4,992,030 (GRCm39)	missense	possibly damaging	0.81
R0124:Atad2b	UTSW	12	5,002,676 (GRCm39)	missense	probably benign	0.23
R0462:Atad2b	UTSW	12	4,991,973 (GRCm39)	missense	possibly damaging	0.79
R0483:Atad2b	UTSW	12	4,995,035 (GRCm39)	splice site	probably benign
R0617:Atad2b	UTSW	12	4,987,401 (GRCm39)	missense	probably benign	0.43
R0894:Atad2b	UTSW	12	5,015,915 (GRCm39)	missense	probably damaging	1.00
R0942:Atad2b	UTSW	12	5,074,591 (GRCm39)	missense	probably damaging	1.00
R0960:Atad2b	UTSW	12	5,056,593 (GRCm39)	splice site	probably benign
R0973:Atad2b	UTSW	12	5,081,784 (GRCm39)	missense	probably benign	0.00
R1306:Atad2b	UTSW	12	5,024,239 (GRCm39)	missense	probably benign	0.08
R1530:Atad2b	UTSW	12	4,992,018 (GRCm39)	nonsense	probably null
R1678:Atad2b	UTSW	12	5,015,899 (GRCm39)	missense	possibly damaging	0.91
R1689:Atad2b	UTSW	12	5,084,575 (GRCm39)	nonsense	probably null
R1826:Atad2b	UTSW	12	5,024,094 (GRCm39)	missense	probably benign	0.00
R1996:Atad2b	UTSW	12	5,040,883 (GRCm39)	missense	probably benign	0.01
R2233:Atad2b	UTSW	12	5,056,745 (GRCm39)	missense	probably damaging	1.00
R2235:Atad2b	UTSW	12	5,056,745 (GRCm39)	missense	probably damaging	1.00
R2943:Atad2b	UTSW	12	4,992,067 (GRCm39)	missense	probably damaging	0.98
R3161:Atad2b	UTSW	12	4,989,689 (GRCm39)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,989,689 (GRCm39)	missense	possibly damaging	0.87
R3162:Atad2b	UTSW	12	4,989,689 (GRCm39)	missense	possibly damaging	0.87
R3508:Atad2b	UTSW	12	5,000,595 (GRCm39)	critical splice donor site	probably null
R4239:Atad2b	UTSW	12	5,035,710 (GRCm39)	missense	probably benign	0.05
R4401:Atad2b	UTSW	12	4,990,145 (GRCm39)	missense	probably damaging	0.99
R4558:Atad2b	UTSW	12	4,993,223 (GRCm39)	missense	probably benign	0.10
R4559:Atad2b	UTSW	12	4,993,223 (GRCm39)	missense	probably benign	0.10
R4573:Atad2b	UTSW	12	5,004,663 (GRCm39)	splice site	probably null
R4639:Atad2b	UTSW	12	5,068,053 (GRCm39)	missense	probably damaging	1.00
R4847:Atad2b	UTSW	12	4,994,901 (GRCm39)	splice site	probably null
R4850:Atad2b	UTSW	12	4,993,251 (GRCm39)	missense	probably benign	0.15
R4851:Atad2b	UTSW	12	4,993,251 (GRCm39)	missense	probably benign	0.15
R4979:Atad2b	UTSW	12	5,084,513 (GRCm39)	missense	probably damaging	1.00
R5024:Atad2b	UTSW	12	4,987,534 (GRCm39)	missense	probably benign	0.45
R5305:Atad2b	UTSW	12	5,015,855 (GRCm39)	missense	probably damaging	1.00
R5405:Atad2b	UTSW	12	4,990,098 (GRCm39)	missense	possibly damaging	0.87
R5627:Atad2b	UTSW	12	4,967,911 (GRCm39)	missense	probably benign	0.01
R6163:Atad2b	UTSW	12	5,004,593 (GRCm39)	missense	probably benign	0.00
R6371:Atad2b	UTSW	12	5,023,970 (GRCm39)	missense	probably damaging	1.00
R6374:Atad2b	UTSW	12	5,068,002 (GRCm39)	missense	probably damaging	1.00
R6399:Atad2b	UTSW	12	5,007,558 (GRCm39)	missense	probably damaging	1.00
R6433:Atad2b	UTSW	12	5,002,642 (GRCm39)	missense	possibly damaging	0.89
R6546:Atad2b	UTSW	12	5,040,949 (GRCm39)	missense	probably damaging	1.00
R6617:Atad2b	UTSW	12	5,074,668 (GRCm39)	missense	probably benign	0.00
R7199:Atad2b	UTSW	12	5,067,992 (GRCm39)	missense	probably damaging	1.00
R7267:Atad2b	UTSW	12	5,077,105 (GRCm39)	nonsense	probably null
R7405:Atad2b	UTSW	12	4,993,232 (GRCm39)	missense	probably benign	0.08
R7460:Atad2b	UTSW	12	5,002,660 (GRCm39)	missense	probably benign	0.28
R7568:Atad2b	UTSW	12	5,060,390 (GRCm39)	critical splice donor site	probably null
R7593:Atad2b	UTSW	12	5,081,726 (GRCm39)	missense	probably benign	0.16
R7648:Atad2b	UTSW	12	5,077,182 (GRCm39)	critical splice donor site	probably null
R8253:Atad2b	UTSW	12	5,024,160 (GRCm39)	missense	probably benign	0.02
R8253:Atad2b	UTSW	12	5,024,159 (GRCm39)	missense	possibly damaging	0.54
R8708:Atad2b	UTSW	12	5,011,253 (GRCm39)	missense	probably damaging	1.00
R8894:Atad2b	UTSW	12	5,064,001 (GRCm39)	critical splice donor site	probably null
R8948:Atad2b	UTSW	12	5,041,012 (GRCm39)	missense	possibly damaging	0.87
R8976:Atad2b	UTSW	12	4,967,923 (GRCm39)	critical splice donor site	probably null
R9052:Atad2b	UTSW	12	5,015,982 (GRCm39)	missense	probably damaging	1.00
R9057:Atad2b	UTSW	12	5,068,102 (GRCm39)	nonsense	probably null
R9134:Atad2b	UTSW	12	5,060,351 (GRCm39)	missense	probably benign	0.01
R9450:Atad2b	UTSW	12	5,063,859 (GRCm39)	missense	probably benign	0.06
R9453:Atad2b	UTSW	12	5,081,578 (GRCm39)	missense	probably benign	0.13
R9494:Atad2b	UTSW	12	5,081,852 (GRCm39)	missense	probably benign	0.26
R9634:Atad2b	UTSW	12	5,060,332 (GRCm39)	missense	probably damaging	1.00
R9764:Atad2b	UTSW	12	5,082,064 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTGCTTATTGAGAATGGGAC -3'
(R):5'- CCTTGGATTAGGTACACACAGCC -3'

Sequencing Primer
(F):5'- AAGTACACTGTAGCTGTCGC -3'
(R):5'- GGATTAGGTACACACAGCCATTTTC -3'

Posted On

2016-11-21