Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03060:Atad2'

409420

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 #

IGL03060

Quality Score

Status

Chromosome

Chromosomal Location

57957440-57998478 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 57985842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153936 (fasta)

Gene Model

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

AlphaFold

Q8CDM1

Predicted Effect

probably benign
Transcript: ENSMUST00000038194

SMART Domains

Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360

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: ENSMUST00000226582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227134

Predicted Effect

probably benign
Transcript: ENSMUST00000228783

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	G	A	19: 56,902,682 (GRCm39)	Q720*	probably null	Het
Amph	A	G	13: 19,278,984 (GRCm39)	E153G	probably damaging	Het
Atosa	A	G	9: 74,917,450 (GRCm39)	D683G	probably damaging	Het
Cep152	C	T	2: 125,461,907 (GRCm39)		probably benign	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Dhrs2	C	A	14: 55,474,775 (GRCm39)	Q137K	probably benign	Het
Fam124a	A	G	14: 62,843,353 (GRCm39)	Y287C	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gm9637	G	A	14: 19,402,173 (GRCm38)		noncoding transcript	Het
Helz2	A	G	2: 180,871,015 (GRCm39)		probably null	Het
Iars1	G	A	13: 49,843,923 (GRCm39)		probably null	Het
Igll1	A	T	16: 16,680,291 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,196 (GRCm39)	Y361H	probably damaging	Het
Lrp1b	A	T	2: 40,527,765 (GRCm39)	H105Q	probably benign	Het
Mapk6	A	G	9: 75,305,084 (GRCm39)	M111T	probably damaging	Het
Mrtfa	G	A	15: 80,929,523 (GRCm39)	R27W	probably damaging	Het
Mt1	T	A	8: 94,906,522 (GRCm39)		probably benign	Het
Myh7b	A	T	2: 155,474,671 (GRCm39)	D1768V	probably damaging	Het
Myo6	A	T	9: 80,168,159 (GRCm39)	Q441L	probably benign	Het
Nt5c3b	A	T	11: 100,327,045 (GRCm39)	Y84N	probably damaging	Het
Ntmt2	T	C	1: 163,544,692 (GRCm39)	D97G	probably damaging	Het
Or1e29	A	G	11: 73,667,289 (GRCm39)	F288S	probably damaging	Het
Paxx	A	G	2: 25,350,196 (GRCm39)	L137P	probably damaging	Het
Ptprz1	T	C	6: 22,972,834 (GRCm39)	V248A	probably damaging	Het
Rif1	T	A	2: 52,002,149 (GRCm39)	C1868S	probably damaging	Het
Sec23a	A	T	12: 59,032,891 (GRCm39)	C403S	probably benign	Het
Skint4	G	A	4: 111,975,432 (GRCm39)	V131I	probably benign	Het
Sugp2	T	C	8: 70,695,837 (GRCm39)	V270A	possibly damaging	Het
Tmed9	A	G	13: 55,743,321 (GRCm39)	D151G	possibly damaging	Het
Tubgcp4	A	G	2: 121,007,071 (GRCm39)		probably benign	Het
Uaca	A	G	9: 60,777,148 (GRCm39)	R512G	probably damaging	Het
Unc80	A	G	1: 66,676,169 (GRCm39)	Y1999C	possibly damaging	Het
Vwf	T	A	6: 125,640,523 (GRCm39)	C2320S	probably damaging	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
IGL00674:Atad2	APN	15	57,971,782 (GRCm39)	missense	possibly damaging	0.49
IGL01407:Atad2	APN	15	57,967,921 (GRCm39)	missense	probably benign
IGL02557:Atad2	APN	15	57,985,993 (GRCm39)	missense	probably benign	0.04
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

2016-08-02