Incidental Mutation 'IGL01011:Atad2b'
ID 53905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atad2b
Ensembl Gene ENSMUSG00000052812
Gene Name ATPase family, AAA domain containing 2B
Synonyms D530031C13Rik, 1110014E10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01011
Quality Score
Status
Chromosome 12
Chromosomal Location 4917353-5047394 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4965984 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 570 (N570S)
Ref Sequence ENSEMBL: ENSMUSP00000047445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045664] [ENSMUST00000218859]
AlphaFold E9Q166
Predicted Effect probably benign
Transcript: ENSMUST00000045664
AA Change: N570S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: N570S

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 probably benign
Transcript: ENSMUST00000218859
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,258,246 C282S probably damaging Het
Abca12 T C 1: 71,263,632 I2143V probably benign Het
Adgrg6 A C 10: 14,409,798 I1148S probably damaging Het
Aox4 C T 1: 58,240,775 R517* probably null Het
Arnt2 T A 7: 84,285,829 D289V probably benign Het
Aven G A 2: 112,629,785 D208N possibly damaging Het
Bcl9l A G 9: 44,505,179 D183G possibly damaging Het
Cd300lf A G 11: 115,124,333 S144P probably benign Het
Chd8 C A 14: 52,231,532 G543V possibly damaging Het
Chrm2 A G 6: 36,524,438 N410S probably benign Het
Clip4 A G 17: 71,849,939 I590V probably benign Het
Cnbp C T 6: 87,845,700 R27H probably benign Het
Col4a3 T C 1: 82,682,301 V889A unknown Het
Cxcl5 T C 5: 90,760,523 probably benign Het
Dennd6a G T 14: 26,603,054 V171F probably damaging Het
Dhx38 T C 8: 109,562,691 I26V probably benign Het
Dscaml1 A G 9: 45,683,672 D691G possibly damaging Het
Etfdh A T 3: 79,612,061 probably benign Het
Fbn2 G A 18: 58,095,240 probably benign Het
Foxp2 T A 6: 15,438,019 *715R probably null Het
Ftl1 A T 7: 45,458,646 D65E probably benign Het
Galm A G 17: 80,183,280 T289A probably benign Het
Gm20721 A G 2: 174,345,738 D1049G probably damaging Het
Gm28778 T C 1: 53,299,118 V47A probably benign Het
Gm5414 T C 15: 101,628,134 S19G probably benign Het
Hdac7 T A 15: 97,793,935 E835D possibly damaging Het
Hist1h1t C T 13: 23,696,049 L62F probably damaging Het
Hspg2 C T 4: 137,559,335 T3663I probably damaging Het
Kdm4d A T 9: 14,464,219 D114E probably benign Het
Kif5a A T 10: 127,239,196 V516E probably benign Het
Lrrtm1 A G 6: 77,244,235 probably null Het
Miga1 G T 3: 152,276,690 T519K probably benign Het
Mtfr1l G A 4: 134,529,200 P182S probably damaging Het
Myo15 A G 11: 60,476,992 I193V probably benign Het
Myo1e T C 9: 70,316,589 probably benign Het
Olfr190 T A 16: 59,074,430 T217S probably benign Het
Olfr376 A T 11: 73,375,007 Q86L probably benign Het
Olfr541 A T 7: 140,704,437 Y62F probably damaging Het
Pias1 T C 9: 62,912,855 T277A probably benign Het
Slamf6 T A 1: 171,938,099 H263Q probably benign Het
Snrnp48 A G 13: 38,220,764 D202G probably damaging Het
Snx13 T A 12: 35,098,280 D269E probably damaging Het
Tiam2 A T 17: 3,415,028 D344V probably benign Het
Tmem62 G T 2: 120,979,219 K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,560,035 T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,047,584 T39M possibly damaging Het
Trio T C 15: 27,736,489 D2794G probably damaging Het
Trpc7 C T 13: 56,804,540 G551D probably damaging Het
Ttc37 G A 13: 76,122,665 C127Y probably damaging Het
Ttn A G 2: 76,814,290 V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 probably benign Het
Ubap2l G A 3: 90,009,256 Q915* probably null Het
Ubfd1 A G 7: 122,078,472 E340G probably benign Het
Vil1 T C 1: 74,434,887 probably null Het
Vmn1r6 T G 6: 57,002,544 L42V probably benign Het
Vps13c A G 9: 67,926,955 T1635A probably damaging Het
Zfhx3 T A 8: 108,793,594 H449Q probably benign Het
Zfp750 A T 11: 121,513,096 S318T probably benign Het
Other mutations in Atad2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Atad2b APN 12 5024593 missense probably damaging 1.00
IGL00917:Atad2b APN 12 4965837 unclassified probably benign
IGL01092:Atad2b APN 12 5017987 missense probably damaging 0.98
IGL01604:Atad2b APN 12 4965837 unclassified probably benign
IGL01924:Atad2b APN 12 5034093 missense probably damaging 1.00
IGL02197:Atad2b APN 12 5018056 missense possibly damaging 0.84
IGL02397:Atad2b APN 12 4974046 missense probably damaging 1.00
IGL02404:Atad2b APN 12 4941972 missense probably benign 0.08
IGL02517:Atad2b APN 12 5018037 missense probably benign 0.07
IGL02726:Atad2b APN 12 4974003 nonsense probably null
IGL02896:Atad2b APN 12 4958151 missense probably damaging 1.00
IGL03227:Atad2b APN 12 5006715 missense probably damaging 1.00
IGL03265:Atad2b APN 12 5024628 missense probably benign 0.24
Plyers UTSW 12 4973970 missense probably damaging 1.00
Smidge UTSW 12 4990949 missense probably damaging 1.00
Tensor UTSW 12 4957558 missense probably damaging 1.00
Traction UTSW 12 5027182 critical splice donor site probably null
Vice UTSW 12 5018002 missense probably damaging 1.00
K3955:Atad2b UTSW 12 4954536 splice site probably benign
P0038:Atad2b UTSW 12 4954536 splice site probably benign
PIT4418001:Atad2b UTSW 12 5024587 missense probably benign 0.07
PIT4431001:Atad2b UTSW 12 5031795 missense possibly damaging 0.77
R0006:Atad2b UTSW 12 4942030 missense possibly damaging 0.81
R0006:Atad2b UTSW 12 4942030 missense possibly damaging 0.81
R0124:Atad2b UTSW 12 4952676 missense probably benign 0.23
R0462:Atad2b UTSW 12 4941973 missense possibly damaging 0.79
R0483:Atad2b UTSW 12 4945035 splice site probably benign
R0617:Atad2b UTSW 12 4937401 missense probably benign 0.43
R0894:Atad2b UTSW 12 4965915 missense probably damaging 1.00
R0942:Atad2b UTSW 12 5024591 missense probably damaging 1.00
R0960:Atad2b UTSW 12 5006593 splice site probably benign
R0973:Atad2b UTSW 12 5031784 missense probably benign 0.00
R1306:Atad2b UTSW 12 4974239 missense probably benign 0.08
R1530:Atad2b UTSW 12 4942018 nonsense probably null
R1678:Atad2b UTSW 12 4965899 missense possibly damaging 0.91
R1689:Atad2b UTSW 12 5034575 nonsense probably null
R1826:Atad2b UTSW 12 4974094 missense probably benign 0.00
R1996:Atad2b UTSW 12 4990883 missense probably benign 0.01
R2233:Atad2b UTSW 12 5006745 missense probably damaging 1.00
R2235:Atad2b UTSW 12 5006745 missense probably damaging 1.00
R2943:Atad2b UTSW 12 4942067 missense probably damaging 0.98
R3161:Atad2b UTSW 12 4939689 missense possibly damaging 0.87
R3162:Atad2b UTSW 12 4939689 missense possibly damaging 0.87
R3162:Atad2b UTSW 12 4939689 missense possibly damaging 0.87
R3508:Atad2b UTSW 12 4950595 critical splice donor site probably null
R4239:Atad2b UTSW 12 4985710 missense probably benign 0.05
R4401:Atad2b UTSW 12 4940145 missense probably damaging 0.99
R4558:Atad2b UTSW 12 4943223 missense probably benign 0.10
R4559:Atad2b UTSW 12 4943223 missense probably benign 0.10
R4573:Atad2b UTSW 12 4954663 splice site probably null
R4639:Atad2b UTSW 12 5018053 missense probably damaging 1.00
R4847:Atad2b UTSW 12 4944901 splice site probably null
R4850:Atad2b UTSW 12 4943251 missense probably benign 0.15
R4851:Atad2b UTSW 12 4943251 missense probably benign 0.15
R4979:Atad2b UTSW 12 5034513 missense probably damaging 1.00
R5024:Atad2b UTSW 12 4937534 missense probably benign 0.45
R5305:Atad2b UTSW 12 4965855 missense probably damaging 1.00
R5405:Atad2b UTSW 12 4940098 missense possibly damaging 0.87
R5627:Atad2b UTSW 12 4917911 missense probably benign 0.01
R5754:Atad2b UTSW 12 5010351 missense probably benign 0.01
R6163:Atad2b UTSW 12 4954593 missense probably benign 0.00
R6371:Atad2b UTSW 12 4973970 missense probably damaging 1.00
R6374:Atad2b UTSW 12 5018002 missense probably damaging 1.00
R6399:Atad2b UTSW 12 4957558 missense probably damaging 1.00
R6433:Atad2b UTSW 12 4952642 missense possibly damaging 0.89
R6546:Atad2b UTSW 12 4990949 missense probably damaging 1.00
R6617:Atad2b UTSW 12 5024668 missense probably benign 0.00
R7199:Atad2b UTSW 12 5017992 missense probably damaging 1.00
R7267:Atad2b UTSW 12 5027105 nonsense probably null
R7405:Atad2b UTSW 12 4943232 missense probably benign 0.08
R7460:Atad2b UTSW 12 4952660 missense probably benign 0.28
R7568:Atad2b UTSW 12 5010390 critical splice donor site probably null
R7593:Atad2b UTSW 12 5031726 missense probably benign 0.16
R7648:Atad2b UTSW 12 5027182 critical splice donor site probably null
R8253:Atad2b UTSW 12 4974159 missense possibly damaging 0.54
R8253:Atad2b UTSW 12 4974160 missense probably benign 0.02
R8708:Atad2b UTSW 12 4961253 missense probably damaging 1.00
R8894:Atad2b UTSW 12 5014001 critical splice donor site probably null
R8948:Atad2b UTSW 12 4991012 missense possibly damaging 0.87
R8976:Atad2b UTSW 12 4917923 critical splice donor site probably null
R9052:Atad2b UTSW 12 4965982 missense probably damaging 1.00
R9057:Atad2b UTSW 12 5018102 nonsense probably null
R9134:Atad2b UTSW 12 5010351 missense probably benign 0.01
Posted On 2013-06-28