Incidental Mutation 'IGL02981:Atp9b'
ID 406533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp9b
Ensembl Gene ENSMUSG00000024566
Gene Name ATPase, class II, type 9B
Synonyms IIb
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02981
Quality Score
Status
Chromosome 18
Chromosomal Location 80777356-80977275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80797504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 857 (V857A)
Ref Sequence ENSEMBL: ENSMUSP00000153157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000225235] [ENSMUST00000225980]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000091790
AA Change: V857A

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: V857A

DomainStartEndE-ValueType
low complexity region 11 39 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 110 181 5.3e-21 PFAM
Pfam:E1-E2_ATPase 186 444 9.1e-15 PFAM
Pfam:Hydrolase 463 885 2.7e-13 PFAM
Pfam:HAD 464 882 4.8e-14 PFAM
Pfam:Cation_ATPase 563 664 3.7e-7 PFAM
Pfam:PhoLip_ATPase_C 899 1128 1.1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224283
Predicted Effect probably benign
Transcript: ENSMUST00000225092
Predicted Effect probably benign
Transcript: ENSMUST00000225218
Predicted Effect probably benign
Transcript: ENSMUST00000225235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225692
Predicted Effect possibly damaging
Transcript: ENSMUST00000225980
AA Change: V857A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A G 2: 150,675,044 (GRCm39) S392P probably benign Het
Adam23 G A 1: 63,610,112 (GRCm39) V705I probably damaging Het
Ank2 T G 3: 126,728,211 (GRCm39) D794A possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aqr T C 2: 113,965,305 (GRCm39) probably benign Het
Banp T C 8: 122,705,303 (GRCm39) Y58H possibly damaging Het
Cacna1e T A 1: 154,347,171 (GRCm39) N999Y probably benign Het
Cd14 T C 18: 36,859,532 (GRCm39) probably benign Het
Crmp1 T C 5: 37,443,770 (GRCm39) I447T probably damaging Het
Dip2a A G 10: 76,112,255 (GRCm39) V1090A possibly damaging Het
Ep400 T A 5: 110,903,969 (GRCm39) H210L possibly damaging Het
Ep400 T A 5: 110,839,476 (GRCm39) probably benign Het
Fam243 T C 16: 92,117,757 (GRCm39) N177S probably benign Het
Fbxw26 A G 9: 109,573,862 (GRCm39) F97L probably benign Het
Fut8 C A 12: 77,521,812 (GRCm39) P484T probably damaging Het
Golph3 A G 15: 12,349,550 (GRCm39) E190G probably benign Het
Hectd1 A T 12: 51,815,670 (GRCm39) D1472E possibly damaging Het
Hnrnpdl T C 5: 100,184,958 (GRCm39) I298V possibly damaging Het
Jakmip2 C A 18: 43,695,595 (GRCm39) probably null Het
Kcnj5 G A 9: 32,233,877 (GRCm39) T146I probably damaging Het
Lyst T G 13: 13,809,496 (GRCm39) F389V probably damaging Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Myo3b T C 2: 69,938,969 (GRCm39) V114A probably damaging Het
Or10a2 C A 7: 106,673,758 (GRCm39) T241N probably damaging Het
Pappa2 C T 1: 158,678,714 (GRCm39) G901R probably benign Het
Patz1 T C 11: 3,240,656 (GRCm39) Y15H probably damaging Het
Pdp2 T C 8: 105,320,267 (GRCm39) W39R probably benign Het
Poc5 T C 13: 96,538,265 (GRCm39) probably null Het
Pou3f1 A G 4: 124,552,236 (GRCm39) D246G probably damaging Het
Pramel5 T A 4: 143,999,430 (GRCm39) Y219F probably benign Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,676,670 (GRCm39) K678E probably damaging Het
Rps2 T C 17: 24,940,698 (GRCm39) F271L probably benign Het
Serpina3k C A 12: 104,307,250 (GRCm39) Q161K probably benign Het
Serpinb6b A G 13: 33,155,589 (GRCm39) T101A probably benign Het
Tprkb T A 6: 85,904,861 (GRCm39) D112E probably benign Het
Tubal3 A G 13: 3,983,257 (GRCm39) T346A probably benign Het
Vwde A G 6: 13,193,112 (GRCm39) F409S possibly damaging Het
Zbtb6 G A 2: 37,319,176 (GRCm39) Q251* probably null Het
Other mutations in Atp9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Atp9b APN 18 80,961,103 (GRCm39) intron probably benign
IGL00769:Atp9b APN 18 80,956,068 (GRCm39) missense probably benign 0.08
IGL00851:Atp9b APN 18 80,809,125 (GRCm39) missense probably damaging 1.00
IGL01529:Atp9b APN 18 80,887,826 (GRCm39) intron probably benign
IGL01637:Atp9b APN 18 80,799,670 (GRCm39) missense probably benign 0.06
IGL01973:Atp9b APN 18 80,801,518 (GRCm39) missense probably benign 0.02
IGL02082:Atp9b APN 18 80,935,145 (GRCm39) intron probably benign
IGL02560:Atp9b APN 18 80,805,413 (GRCm39) missense probably benign 0.23
IGL03151:Atp9b APN 18 80,820,065 (GRCm39) missense probably benign 0.28
IGL03304:Atp9b APN 18 80,961,092 (GRCm39) missense probably damaging 1.00
IGL03348:Atp9b APN 18 80,879,637 (GRCm39) missense possibly damaging 0.88
R0056:Atp9b UTSW 18 80,809,018 (GRCm39) missense probably damaging 0.99
R0355:Atp9b UTSW 18 80,952,800 (GRCm39) intron probably benign
R0366:Atp9b UTSW 18 80,805,317 (GRCm39) missense probably damaging 1.00
R0557:Atp9b UTSW 18 80,809,137 (GRCm39) missense probably damaging 1.00
R0612:Atp9b UTSW 18 80,797,171 (GRCm39) missense possibly damaging 0.81
R1099:Atp9b UTSW 18 80,901,841 (GRCm39) missense probably damaging 1.00
R1126:Atp9b UTSW 18 80,822,169 (GRCm39) missense probably damaging 1.00
R1499:Atp9b UTSW 18 80,822,122 (GRCm39) missense probably benign 0.02
R1499:Atp9b UTSW 18 80,805,353 (GRCm39) missense probably damaging 0.99
R1764:Atp9b UTSW 18 80,952,806 (GRCm39) critical splice donor site probably null
R1780:Atp9b UTSW 18 80,820,112 (GRCm39) nonsense probably null
R1782:Atp9b UTSW 18 80,809,137 (GRCm39) missense probably damaging 1.00
R1835:Atp9b UTSW 18 80,822,098 (GRCm39) missense probably benign 0.00
R1859:Atp9b UTSW 18 80,793,135 (GRCm39) missense possibly damaging 0.95
R1953:Atp9b UTSW 18 80,797,522 (GRCm39) missense possibly damaging 0.80
R2140:Atp9b UTSW 18 80,779,302 (GRCm39) missense probably damaging 0.99
R2191:Atp9b UTSW 18 80,796,266 (GRCm39) missense probably damaging 1.00
R4118:Atp9b UTSW 18 80,793,044 (GRCm39) missense possibly damaging 0.83
R4605:Atp9b UTSW 18 80,796,364 (GRCm39) critical splice acceptor site probably null
R4654:Atp9b UTSW 18 80,935,093 (GRCm39) missense probably benign 0.00
R4767:Atp9b UTSW 18 80,796,285 (GRCm39) missense probably damaging 1.00
R4775:Atp9b UTSW 18 80,808,984 (GRCm39) critical splice donor site probably null
R4936:Atp9b UTSW 18 80,779,308 (GRCm39) missense possibly damaging 0.58
R5096:Atp9b UTSW 18 80,805,399 (GRCm39) missense probably benign 0.39
R5279:Atp9b UTSW 18 80,956,073 (GRCm39) missense probably damaging 0.98
R5394:Atp9b UTSW 18 80,820,052 (GRCm39) missense probably benign 0.16
R5774:Atp9b UTSW 18 80,977,147 (GRCm39) missense probably damaging 0.96
R5877:Atp9b UTSW 18 80,796,004 (GRCm39) missense probably benign
R6080:Atp9b UTSW 18 80,782,023 (GRCm39) missense probably benign 0.03
R6170:Atp9b UTSW 18 80,920,562 (GRCm39) missense probably benign 0.16
R6250:Atp9b UTSW 18 80,799,736 (GRCm39) missense probably benign 0.01
R6340:Atp9b UTSW 18 80,822,115 (GRCm39) missense probably benign 0.38
R6498:Atp9b UTSW 18 80,820,230 (GRCm39) missense probably benign 0.03
R6620:Atp9b UTSW 18 80,851,902 (GRCm39) nonsense probably null
R6632:Atp9b UTSW 18 80,851,864 (GRCm39) missense probably damaging 1.00
R6665:Atp9b UTSW 18 80,960,950 (GRCm39) missense probably benign 0.26
R6821:Atp9b UTSW 18 80,890,463 (GRCm39) missense probably damaging 1.00
R6927:Atp9b UTSW 18 80,935,072 (GRCm39) missense possibly damaging 0.63
R6977:Atp9b UTSW 18 80,796,317 (GRCm39) missense probably damaging 1.00
R7133:Atp9b UTSW 18 80,952,871 (GRCm39) missense
R7188:Atp9b UTSW 18 80,961,041 (GRCm39) missense
R7396:Atp9b UTSW 18 80,780,057 (GRCm39) missense
R7432:Atp9b UTSW 18 80,809,056 (GRCm39) missense
R7457:Atp9b UTSW 18 80,960,833 (GRCm39) splice site probably null
R7877:Atp9b UTSW 18 80,890,412 (GRCm39) missense
R8072:Atp9b UTSW 18 80,808,276 (GRCm39) missense
R8167:Atp9b UTSW 18 80,890,398 (GRCm39) missense
R8420:Atp9b UTSW 18 80,887,806 (GRCm39) missense
R8700:Atp9b UTSW 18 80,796,361 (GRCm39) missense
R8830:Atp9b UTSW 18 80,809,015 (GRCm39) missense
R8884:Atp9b UTSW 18 80,838,562 (GRCm39) missense
R9172:Atp9b UTSW 18 80,960,993 (GRCm39) nonsense probably null
R9463:Atp9b UTSW 18 80,809,051 (GRCm39) missense
R9735:Atp9b UTSW 18 80,838,629 (GRCm39) missense
Z1176:Atp9b UTSW 18 80,809,080 (GRCm39) missense
Posted On 2016-08-02