Incidental Mutation 'IGL02397:Atad2b'
ID 291730
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 # IGL02397
Quality Score
Status
Chromosome 12
Chromosomal Location 4967353-5097394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5024046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 57 (Y57C)
Ref Sequence ENSEMBL: ENSMUSP00000151695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045664] [ENSMUST00000218859]
AlphaFold E9Q166
Predicted Effect probably damaging
Transcript: ENSMUST00000045664
AA Change: Y632C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047445
Gene: ENSMUSG00000052812
AA Change: Y632C

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 damaging
Transcript: ENSMUST00000218859
AA Change: Y57C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,834 (GRCm39) N400S probably benign Het
Adam12 T A 7: 133,511,548 (GRCm39) probably benign Het
Adam5 T C 8: 25,234,149 (GRCm39) probably benign Het
Amn A T 12: 111,240,913 (GRCm39) Y139F possibly damaging Het
Ano10 C A 9: 122,090,458 (GRCm39) R285L probably damaging Het
Brd8 T C 18: 34,737,926 (GRCm39) K786R probably damaging Het
Cacna2d1 T C 5: 16,525,162 (GRCm39) probably benign Het
Card9 C T 2: 26,242,341 (GRCm39) D532N probably damaging Het
Cd22 T C 7: 30,577,050 (GRCm39) T86A probably benign Het
Cebpz A T 17: 79,230,690 (GRCm39) D842E possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 A G 1: 10,178,690 (GRCm39) N713S possibly damaging Het
Eml5 T C 12: 98,756,933 (GRCm39) T1899A probably benign Het
Fpgs T C 2: 32,575,801 (GRCm39) T381A probably damaging Het
Frmd7 G A X: 49,984,775 (GRCm39) T465I possibly damaging Het
Gm9837 A T 11: 53,360,987 (GRCm39) probably benign Het
Hectd3 C A 4: 116,860,333 (GRCm39) A816D possibly damaging Het
Itpripl2 A G 7: 118,089,519 (GRCm39) W347R probably damaging Het
Kcnc3 A G 7: 44,245,218 (GRCm39) T503A probably damaging Het
Mmadhc T C 2: 50,178,992 (GRCm39) E142G possibly damaging Het
Nabp2 T A 10: 128,244,192 (GRCm39) N138I possibly damaging Het
Obscn A G 11: 58,967,725 (GRCm39) V2902A possibly damaging Het
Rbm8a2 T C 1: 175,806,204 (GRCm39) D91G probably damaging Het
Samd3 A T 10: 26,109,474 (GRCm39) Y134F possibly damaging Het
Slc11a2 A G 15: 100,299,530 (GRCm39) F58S probably damaging Het
Slitrk4 T C X: 63,316,290 (GRCm39) T126A probably damaging Het
Sspo C A 6: 48,438,572 (GRCm39) P1547T probably benign Het
Tecta T C 9: 42,306,294 (GRCm39) S45G probably damaging Het
Tenm3 T C 8: 48,689,729 (GRCm39) T1937A possibly damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trmt1l T A 1: 151,315,282 (GRCm39) I156N probably damaging Het
Vmn1r71 C T 7: 10,482,199 (GRCm39) R163Q probably benign Het
Ythdf2 C T 4: 131,938,757 (GRCm39) G13D probably damaging Het
Zbtb7c A T 18: 76,270,047 (GRCm39) Y45F possibly damaging Het
Zfc3h1 G A 10: 115,243,890 (GRCm39) M740I 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
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
IGL02896:Atad2b APN 12 5,008,151 (GRCm39) missense probably damaging 1.00
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 2015-04-16