Incidental Mutation 'IGL00088:Atad2b'
ID1096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atad2b
Ensembl Gene ENSMUSG00000052812
Gene NameATPase family, AAA domain containing 2B
SynonymsD530031C13Rik, 1110014E10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00088
Quality Score
Status
Chromosome12
Chromosomal Location4917353-5047394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5024593 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 1051 (R1051G)
Ref Sequence ENSEMBL: ENSMUSP00000047445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045664]
Predicted Effect probably damaging
Transcript: ENSMUST00000045664
AA Change: R1051G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: R1051G

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Ankhd1 A G 18: 36,665,459 probably benign Het
Anpep A G 7: 79,825,736 V879A possibly damaging Het
Asb13 T G 13: 3,643,476 V78G probably null Het
Bdp1 T C 13: 100,098,510 Y192C probably damaging Het
C1ql2 G T 1: 120,341,670 G185C probably damaging Het
C87499 T A 4: 88,629,070 K121N probably benign Het
Catsperg2 A G 7: 29,705,404 S745P possibly damaging Het
Col19a1 A T 1: 24,561,306 S52T unknown Het
Col4a2 G T 8: 11,443,685 G1418V probably damaging Het
Crnkl1 C T 2: 145,918,468 D677N possibly damaging Het
Cyp2j8 T A 4: 96,503,842 N125I probably benign Het
Cyp2t4 A T 7: 27,155,298 M68L probably benign Het
Dclk2 T A 3: 86,799,090 probably null Het
Dmxl2 T C 9: 54,401,704 D1921G probably benign Het
Dnah10 G A 5: 124,828,603 G4104S probably damaging Het
Echdc2 T C 4: 108,178,911 I273T probably damaging Het
Extl1 T C 4: 134,358,019 K596E probably damaging Het
Fads3 A T 19: 10,052,299 D108V probably null Het
Fam135b A G 15: 71,450,494 L1274P probably damaging Het
Fat1 T A 8: 45,024,602 H2228Q possibly damaging Het
Gcc2 C T 10: 58,292,680 H1341Y probably damaging Het
Gls2 A G 10: 128,200,971 probably null Het
Gm13119 T A 4: 144,362,530 H139Q possibly damaging Het
Gpr137 A C 19: 6,939,704 V139G probably damaging Het
Ikbke A G 1: 131,270,012 probably null Het
Irak2 A T 6: 113,678,675 N285Y probably benign Het
Kcnu1 G A 8: 25,897,856 C566Y probably benign Het
Klhl29 G A 12: 5,140,705 P97S probably benign Het
Lama4 T C 10: 39,065,595 probably benign Het
Lhx6 G A 2: 36,091,716 probably benign Het
Mdn1 T C 4: 32,723,651 L2529P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Naa15 T A 3: 51,438,405 V19D probably damaging Het
Ncbp3 A T 11: 73,073,529 probably benign Het
Nckipsd G A 9: 108,814,969 V530I probably benign Het
Neb A G 2: 52,308,747 I394T possibly damaging Het
Nnmt A T 9: 48,591,924 probably benign Het
Nupl1 T A 14: 60,242,577 I207L probably benign Het
Olfr113 A T 17: 37,574,917 C169S probably damaging Het
Olfr180 C T 16: 58,915,850 E264K probably benign Het
Olfr290 T A 7: 84,916,370 M197K probably damaging Het
Otud4 T A 8: 79,672,881 N741K probably damaging Het
Pard6a T A 8: 105,703,201 C264S probably benign Het
Plch2 T C 4: 155,006,642 N276S probably damaging Het
Racgap1 T C 15: 99,636,122 probably benign Het
Rad51d T C 11: 82,889,746 D70G probably damaging Het
Recql4 C T 15: 76,707,336 A484T possibly damaging Het
Reg3g A T 6: 78,466,779 S149T probably benign Het
Rpl13a C A 7: 45,127,071 probably null Het
Scn10a T C 9: 119,672,226 Y164C probably damaging Het
Scn2a A G 2: 65,764,440 I1878V probably benign Het
Sgcg T A 14: 61,240,347 R98* probably null Het
Tas2r137 A T 6: 40,491,340 I35F probably benign Het
Tex19.2 A G 11: 121,116,812 F270S possibly damaging Het
Traip C T 9: 107,970,550 R391W probably benign Het
Trim7 A G 11: 48,845,571 N251D probably damaging Het
Trmt2a T A 16: 18,249,487 V8D probably benign Het
Ubr3 A C 2: 69,988,810 I9L probably benign Het
Usp42 A G 5: 143,717,142 S575P probably benign Het
Vmn2r52 G T 7: 10,169,096 H468Q probably benign Het
Vmn2r59 T A 7: 42,012,064 T776S possibly damaging Het
Zcchc6 T C 13: 59,816,698 E221G probably damaging Het
Other mutations in Atad2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Atad2b APN 12 4965837 unclassified probably benign
IGL01011:Atad2b APN 12 4965984 missense probably benign 0.01
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
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
Posted On2011-07-12