Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00674:Atad2'

9102

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

Essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

IGL00674

Quality Score

Status

Chromosome

Chromosomal Location

57957440-57998478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57971782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 365 (Q365L)

Ref Sequence

ENSEMBL: ENSMUSP00000153936 (fasta)

Gene Model

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

AlphaFold

Q8CDM1

Predicted Effect

probably benign
Transcript: ENSMUST00000038194
AA Change: Q689L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: Q689L

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: ENSMUST00000226507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226526

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228783
AA Change: Q365L

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd2ap	A	T	17: 43,119,676 (GRCm39)	N492K	probably benign	Het
Fam114a1	T	A	5: 65,137,347 (GRCm39)	S97T	probably benign	Het
Fbxw8	C	T	5: 118,233,658 (GRCm39)	M324I	possibly damaging	Het
Gpx6	A	G	13: 21,497,978 (GRCm39)		probably benign	Het
Kbtbd3	A	G	9: 4,329,949 (GRCm39)	T108A	probably benign	Het
Lrrd1	T	C	5: 3,899,773 (GRCm39)	I26T	possibly damaging	Het
Mark1	C	T	1: 184,644,303 (GRCm39)	G454S	probably benign	Het
Mrpl20	T	C	4: 155,893,041 (GRCm39)	F91L	probably benign	Het
Nt5c3b	A	T	11: 100,323,735 (GRCm39)		probably benign	Het
Osbpl2	T	C	2: 179,792,051 (GRCm39)	Y252H	possibly damaging	Het
Pard3	A	G	8: 128,115,159 (GRCm39)	N626D	probably damaging	Het
Pbrm1	C	T	14: 30,840,733 (GRCm39)	P1612S	probably damaging	Het
Prl3d3	T	C	13: 27,343,114 (GRCm39)		probably null	Het
Sall4	T	C	2: 168,597,700 (GRCm39)	D380G	probably damaging	Het
Sema3b	A	C	9: 107,481,240 (GRCm39)		probably null	Het
Spred1	C	T	2: 117,008,339 (GRCm39)	P415L	probably damaging	Het
Tnc	T	A	4: 63,883,844 (GRCm39)	D1958V	probably damaging	Het
Tnfsf15	A	G	4: 63,652,483 (GRCm39)		probably benign	Het
Usp24	T	A	4: 106,229,876 (GRCm39)		probably benign	Het

Other mutations in Atad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Atad2	APN	15	57,980,216 (GRCm39)	missense	probably damaging	1.00
IGL00556:Atad2	APN	15	57,963,476 (GRCm39)	missense	probably damaging	1.00
IGL01407:Atad2	APN	15	57,967,921 (GRCm39)	missense	probably benign
IGL02557:Atad2	APN	15	57,985,993 (GRCm39)	missense	probably benign	0.04
IGL03060:Atad2	APN	15	57,985,842 (GRCm39)	unclassified	probably benign
IGL03308:Atad2	APN	15	57,965,919 (GRCm39)	missense	probably benign	0.00
R0113:Atad2	UTSW	15	57,984,330 (GRCm39)	unclassified	probably benign
R0195:Atad2	UTSW	15	57,963,350 (GRCm39)	splice site	probably benign
R0310:Atad2	UTSW	15	57,977,653 (GRCm39)	missense	probably damaging	1.00
R0499:Atad2	UTSW	15	57,984,345 (GRCm39)	missense	probably benign
R0499:Atad2	UTSW	15	57,966,636 (GRCm39)	missense	possibly damaging	0.92
R0564:Atad2	UTSW	15	57,989,229 (GRCm39)	splice site	probably benign
R0578:Atad2	UTSW	15	57,968,964 (GRCm39)	missense	probably damaging	1.00
R0581:Atad2	UTSW	15	57,990,060 (GRCm39)	missense	probably benign
R0667:Atad2	UTSW	15	57,962,115 (GRCm39)	missense	probably benign	0.01
R0697:Atad2	UTSW	15	57,968,939 (GRCm39)	missense	possibly damaging	0.91
R1219:Atad2	UTSW	15	57,998,307 (GRCm39)	missense	probably benign	0.00
R1271:Atad2	UTSW	15	57,989,985 (GRCm39)	missense	probably benign	0.00
R1544:Atad2	UTSW	15	57,966,760 (GRCm39)	missense	probably damaging	1.00
R1624:Atad2	UTSW	15	57,963,415 (GRCm39)	missense	probably damaging	1.00
R1853:Atad2	UTSW	15	57,960,685 (GRCm39)	missense	possibly damaging	0.56
R1854:Atad2	UTSW	15	57,960,685 (GRCm39)	missense	possibly damaging	0.56
R1855:Atad2	UTSW	15	57,960,685 (GRCm39)	missense	possibly damaging	0.56
R1860:Atad2	UTSW	15	57,960,114 (GRCm39)	splice site	probably null
R1861:Atad2	UTSW	15	57,960,114 (GRCm39)	splice site	probably null
R1876:Atad2	UTSW	15	57,970,264 (GRCm39)	missense	probably benign	0.00
R1938:Atad2	UTSW	15	57,960,101 (GRCm39)	missense	possibly damaging	0.76
R2158:Atad2	UTSW	15	57,961,962 (GRCm39)	missense	possibly damaging	0.95
R3756:Atad2	UTSW	15	57,963,119 (GRCm39)	missense	probably benign	0.01
R4256:Atad2	UTSW	15	57,980,252 (GRCm39)	missense	probably damaging	1.00
R4762:Atad2	UTSW	15	57,971,758 (GRCm39)	missense	probably benign
R4827:Atad2	UTSW	15	57,971,744 (GRCm39)	missense	probably benign	0.07
R4838:Atad2	UTSW	15	57,966,679 (GRCm39)	missense	probably damaging	1.00
R5238:Atad2	UTSW	15	57,971,733 (GRCm39)	missense	possibly damaging	0.90
R5247:Atad2	UTSW	15	57,967,874 (GRCm39)	nonsense	probably null
R5685:Atad2	UTSW	15	57,980,194 (GRCm39)	missense	possibly damaging	0.95
R5790:Atad2	UTSW	15	57,989,990 (GRCm39)	missense	probably damaging	1.00
R5813:Atad2	UTSW	15	57,963,250 (GRCm39)	missense	probably benign	0.42
R5886:Atad2	UTSW	15	57,961,910 (GRCm39)	nonsense	probably null
R5955:Atad2	UTSW	15	57,969,055 (GRCm39)	missense	probably benign	0.06
R6034:Atad2	UTSW	15	57,971,959 (GRCm39)	missense	probably damaging	1.00
R6034:Atad2	UTSW	15	57,971,959 (GRCm39)	missense	probably damaging	1.00
R6111:Atad2	UTSW	15	57,971,487 (GRCm39)	missense	probably benign	0.07
R6209:Atad2	UTSW	15	57,981,811 (GRCm39)	missense	probably damaging	1.00
R6587:Atad2	UTSW	15	57,984,444 (GRCm39)	missense	probably benign	0.03
R6856:Atad2	UTSW	15	57,970,209 (GRCm39)	missense	probably damaging	1.00
R7106:Atad2	UTSW	15	57,980,162 (GRCm39)	critical splice donor site	probably null
R7178:Atad2	UTSW	15	57,980,689 (GRCm39)	missense	probably damaging	1.00
R7290:Atad2	UTSW	15	57,962,047 (GRCm39)	missense	probably benign	0.00
R7421:Atad2	UTSW	15	57,998,322 (GRCm39)	missense	probably benign	0.40
R7583:Atad2	UTSW	15	57,990,060 (GRCm39)	missense	probably benign
R7861:Atad2	UTSW	15	57,989,176 (GRCm39)	missense	probably benign	0.10
R7886:Atad2	UTSW	15	57,989,532 (GRCm39)	missense	probably damaging	1.00
R8072:Atad2	UTSW	15	57,963,374 (GRCm39)	missense	possibly damaging	0.96
R8126:Atad2	UTSW	15	57,968,987 (GRCm39)	missense	probably benign	0.02
R8845:Atad2	UTSW	15	57,989,532 (GRCm39)	missense	probably damaging	1.00
R9027:Atad2	UTSW	15	57,995,628 (GRCm39)	missense	probably benign	0.04
R9079:Atad2	UTSW	15	57,989,223 (GRCm39)	missense	probably benign	0.35
R9161:Atad2	UTSW	15	57,989,185 (GRCm39)	missense	possibly damaging	0.64
R9209:Atad2	UTSW	15	57,980,194 (GRCm39)	missense	possibly damaging	0.95
R9266:Atad2	UTSW	15	57,985,967 (GRCm39)	missense	probably benign	0.00
R9306:Atad2	UTSW	15	57,959,994 (GRCm39)	nonsense	probably null
R9546:Atad2	UTSW	15	57,989,973 (GRCm39)	missense	probably damaging	1.00
R9547:Atad2	UTSW	15	57,989,973 (GRCm39)	missense	probably damaging	1.00
R9614:Atad2	UTSW	15	57,970,119 (GRCm39)	critical splice donor site	probably null
R9655:Atad2	UTSW	15	57,998,303 (GRCm39)	missense	probably damaging	1.00
R9663:Atad2	UTSW	15	57,971,540 (GRCm39)	missense	probably benign	0.06

Posted On

2012-12-06