Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00556:Atad2'

5838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atad2

Ensembl Gene

ENSMUSG00000022360

Gene Name

ATPase family, AAA domain containing 2

Synonyms

2610509G12Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

58094044-58135082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58100080 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 723 (I723T)

Ref Sequence

ENSEMBL: ENSMUSP00000153936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038194] [ENSMUST00000228783]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038194
AA Change: I1047T

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

SMART Domains

Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: I1047T

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC
low complexity region	237	268	N/A	INTRINSIC
low complexity region	337	349	N/A	INTRINSIC
AAA	438	579	9.93e-21	SMART
low complexity region	622	633	N/A	INTRINSIC
SCOP:d1e32a2	751	912	5e-4	SMART
low complexity region	924	947	N/A	INTRINSIC
BROMO	955	1067	1.2e-19	SMART
low complexity region	1213	1235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226649

Predicted Effect

probably damaging
Transcript: ENSMUST00000228783
AA Change: I723T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Cct4	T	A	11: 22,997,656	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,828,271		probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684		probably benign	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Atad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Atad2	APN	15	58116820	missense	probably damaging	1.00
IGL00674:Atad2	APN	15	58108386	missense	possibly damaging	0.49
IGL01407:Atad2	APN	15	58104525	missense	probably benign
IGL02557:Atad2	APN	15	58122597	missense	probably benign	0.04
IGL03060:Atad2	APN	15	58122446	unclassified	probably benign
IGL03308:Atad2	APN	15	58102523	missense	probably benign	0.00
R0113:Atad2	UTSW	15	58120934	unclassified	probably benign
R0195:Atad2	UTSW	15	58099954	splice site	probably benign
R0310:Atad2	UTSW	15	58114257	missense	probably damaging	1.00
R0499:Atad2	UTSW	15	58103240	missense	possibly damaging	0.92
R0499:Atad2	UTSW	15	58120949	missense	probably benign
R0564:Atad2	UTSW	15	58125833	splice site	probably benign
R0578:Atad2	UTSW	15	58105568	missense	probably damaging	1.00
R0581:Atad2	UTSW	15	58126664	missense	probably benign
R0667:Atad2	UTSW	15	58098719	missense	probably benign	0.01
R0697:Atad2	UTSW	15	58105543	missense	possibly damaging	0.91
R1219:Atad2	UTSW	15	58134911	missense	probably benign	0.00
R1271:Atad2	UTSW	15	58126589	missense	probably benign	0.00
R1544:Atad2	UTSW	15	58103364	missense	probably damaging	1.00
R1624:Atad2	UTSW	15	58100019	missense	probably damaging	1.00
R1853:Atad2	UTSW	15	58097289	missense	possibly damaging	0.56
R1854:Atad2	UTSW	15	58097289	missense	possibly damaging	0.56
R1855:Atad2	UTSW	15	58097289	missense	possibly damaging	0.56
R1860:Atad2	UTSW	15	58096718	splice site	probably null
R1861:Atad2	UTSW	15	58096718	splice site	probably null
R1876:Atad2	UTSW	15	58106868	missense	probably benign	0.00
R1938:Atad2	UTSW	15	58096705	missense	possibly damaging	0.76
R2158:Atad2	UTSW	15	58098566	missense	possibly damaging	0.95
R3756:Atad2	UTSW	15	58099723	missense	probably benign	0.01
R4256:Atad2	UTSW	15	58116856	missense	probably damaging	1.00
R4762:Atad2	UTSW	15	58108362	missense	probably benign
R4827:Atad2	UTSW	15	58108348	missense	probably benign	0.07
R4838:Atad2	UTSW	15	58103283	missense	probably damaging	1.00
R5238:Atad2	UTSW	15	58108337	missense	possibly damaging	0.90
R5247:Atad2	UTSW	15	58104478	nonsense	probably null
R5685:Atad2	UTSW	15	58116798	missense	possibly damaging	0.95
R5790:Atad2	UTSW	15	58126594	missense	probably damaging	1.00
R5813:Atad2	UTSW	15	58099854	missense	probably benign	0.42
R5886:Atad2	UTSW	15	58098514	nonsense	probably null
R5955:Atad2	UTSW	15	58105659	missense	probably benign	0.06
R6034:Atad2	UTSW	15	58108563	missense	probably damaging	1.00
R6034:Atad2	UTSW	15	58108563	missense	probably damaging	1.00
R6111:Atad2	UTSW	15	58108091	missense	probably benign	0.07
R6209:Atad2	UTSW	15	58118415	missense	probably damaging	1.00
R6587:Atad2	UTSW	15	58121048	missense	probably benign	0.03
R6856:Atad2	UTSW	15	58106813	missense	probably damaging	1.00
R7106:Atad2	UTSW	15	58116766	critical splice donor site	probably null
R7178:Atad2	UTSW	15	58117293	missense	probably damaging	1.00
R7290:Atad2	UTSW	15	58098651	missense	probably benign	0.00
R7421:Atad2	UTSW	15	58134926	missense	probably benign	0.40
R7583:Atad2	UTSW	15	58126664	missense	probably benign
R7861:Atad2	UTSW	15	58125780	missense	probably benign	0.10
R7886:Atad2	UTSW	15	58126136	missense	probably damaging	1.00
R8072:Atad2	UTSW	15	58099978	missense	possibly damaging	0.96
R8126:Atad2	UTSW	15	58105591	missense	probably benign	0.02

Posted On

2012-04-20