Incidental Mutation 'IGL03308:Atad2'
ID 416443
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 # IGL03308
Quality Score
Status
Chromosome 15
Chromosomal Location 57957440-57998478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57965919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 671 (V671A)
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: V995A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: V995A

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000228783
AA Change: V671A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,821 (GRCm39) I216V probably damaging Het
Abcc1 A G 16: 14,288,475 (GRCm39) I1367V possibly damaging Het
Ap1g2 T A 14: 55,342,333 (GRCm39) I175F probably benign Het
Ccdc134 A G 15: 82,015,721 (GRCm39) D67G probably damaging Het
Cdk17 G A 10: 93,057,506 (GRCm39) probably null Het
Col3a1 A G 1: 45,369,777 (GRCm39) probably benign Het
Col5a3 A G 9: 20,719,675 (GRCm39) L228P unknown Het
Eef1a2 A G 2: 180,790,629 (GRCm39) probably benign Het
Fars2 T G 13: 36,388,670 (GRCm39) I53R possibly damaging Het
Frmd4a G T 2: 4,502,837 (GRCm39) A98S possibly damaging Het
Gprin1 T A 13: 54,887,957 (GRCm39) M106L probably benign Het
Hspb8 T C 5: 116,547,401 (GRCm39) T194A possibly damaging Het
Ift27 A G 15: 78,050,215 (GRCm39) S65P probably damaging Het
Inpp5d A C 1: 87,630,919 (GRCm39) Y430S probably damaging Het
Kat6b T C 14: 21,674,902 (GRCm39) S356P probably damaging Het
Limch1 C T 5: 67,159,901 (GRCm39) T443M possibly damaging Het
Mcf2l C T 8: 13,059,512 (GRCm39) R708C probably damaging Het
Mlf1 T C 3: 67,305,140 (GRCm39) W214R probably damaging Het
Naga A T 15: 82,220,088 (GRCm39) L153Q probably damaging Het
Nbas A G 12: 13,374,349 (GRCm39) Q559R possibly damaging Het
Or2ab1 T C 11: 58,488,525 (GRCm39) F101S probably damaging Het
Or2t6 T A 14: 14,175,161 (GRCm38) H307L probably benign Het
Prex2 A G 1: 11,255,399 (GRCm39) D1148G possibly damaging Het
Prss23 A C 7: 89,158,938 (GRCm39) L377R probably benign Het
Ptprc G T 1: 138,054,058 (GRCm39) T27K possibly damaging Het
Rnf213 A G 11: 119,364,998 (GRCm39) T4553A probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Skint3 T C 4: 112,111,264 (GRCm39) F130L probably damaging Het
Slc8a1 A G 17: 81,749,624 (GRCm39) probably benign Het
Stau1 T C 2: 166,792,240 (GRCm39) N433D probably damaging Het
Tapbpl G A 6: 125,205,142 (GRCm39) A268V possibly damaging Het
Tmem131l T C 3: 83,848,209 (GRCm39) I314V probably benign Het
Tmem44 A G 16: 30,362,566 (GRCm39) W151R probably damaging Het
Tnnc1 T C 14: 30,931,798 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,461 (GRCm39) N530T probably damaging Het
Ttn A G 2: 76,576,907 (GRCm39) I24662T probably damaging Het
Vmn1r49 A T 6: 90,049,341 (GRCm39) H220Q possibly damaging Het
Vmn2r106 A T 17: 20,498,785 (GRCm39) C375* probably null Het
Vps26b T C 9: 26,940,796 (GRCm39) Y41C probably damaging Het
Wdr64 T C 1: 175,594,562 (GRCm39) probably benign Het
Xylt1 C T 7: 117,236,978 (GRCm39) Q576* probably null Het
Zfp106 T C 2: 120,354,505 (GRCm39) D1422G probably benign Het
Other mutations in Atad2
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03060:Atad2 APN 15 57,985,842 (GRCm39) unclassified probably benign
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