Incidental Mutation 'IGL02896:Atad2b'
ID 363421
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02896
Quality Score
Status
Chromosome 12
Chromosomal Location 4967353-5097394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5008151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 466 (F466I)
Ref Sequence ENSEMBL: ENSMUSP00000047445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045664]
AlphaFold E9Q166
Predicted Effect probably damaging
Transcript: ENSMUST00000045664
AA Change: F466I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: F466I

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000218303
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 88,315,648 (GRCm39) D246G probably damaging Het
Adcy2 A G 13: 68,875,991 (GRCm39) S504P probably damaging Het
Adgrv1 A T 13: 81,668,858 (GRCm39) I2566K probably damaging Het
Als2 A G 1: 59,222,946 (GRCm39) V1108A probably benign Het
Cyp2a22 T C 7: 26,635,886 (GRCm39) M226V probably damaging Het
D5Ertd579e T C 5: 36,771,326 (GRCm39) D1023G possibly damaging Het
D630003M21Rik T C 2: 158,059,205 (GRCm39) I232V probably benign Het
Dolpp1 T C 2: 30,286,242 (GRCm39) S114P probably damaging Het
Fars2 T A 13: 36,388,825 (GRCm39) S105T probably benign Het
Fndc7 T C 3: 108,770,247 (GRCm39) I560V probably benign Het
Gcn1 T C 5: 115,757,707 (GRCm39) probably benign Het
Gm5134 T C 10: 75,810,058 (GRCm39) L113P possibly damaging Het
Hipk2 G T 6: 38,675,382 (GRCm39) H1066Q probably damaging Het
Katnb1 A G 8: 95,822,656 (GRCm39) probably benign Het
Lrrd1 T A 5: 3,901,473 (GRCm39) S593T probably benign Het
Mastl T C 2: 23,021,779 (GRCm39) R713G probably damaging Het
Meak7 T C 8: 120,489,164 (GRCm39) D373G probably damaging Het
Mrgpra6 T A 7: 46,838,655 (GRCm39) D181V probably benign Het
Mroh7 C T 4: 106,557,013 (GRCm39) V828I possibly damaging Het
Nbeal2 A G 9: 110,468,360 (GRCm39) probably null Het
Nckap5l G T 15: 99,325,091 (GRCm39) Q471K possibly damaging Het
Or12j5 T C 7: 140,083,968 (GRCm39) probably null Het
Or1j15 A T 2: 36,459,217 (GRCm39) L202F possibly damaging Het
Or5an1c A T 19: 12,218,353 (GRCm39) L224* probably null Het
Pfn4 A G 12: 4,825,451 (GRCm39) N96S probably benign Het
Ppp1r3c G A 19: 36,710,865 (GRCm39) P302S probably benign Het
Senp2 T G 16: 21,837,118 (GRCm39) Y122* probably null Het
Slc5a7 C A 17: 54,600,045 (GRCm39) G123* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tent2 A T 13: 93,304,945 (GRCm39) N280K probably damaging Het
Th C T 7: 142,449,168 (GRCm39) R289Q probably damaging Het
Tigit C T 16: 43,482,561 (GRCm39) V58I probably benign Het
Ush1c C A 7: 45,847,839 (GRCm39) V810L probably benign Het
Vmn2r120 C A 17: 57,816,008 (GRCm39) K782N probably damaging Het
Other mutations in Atad2b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5754:Atad2b UTSW 12 5,060,351 (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
Posted On 2015-12-18