Incidental Mutation 'R6498:Atp9b'
ID 523122
Institutional Source Beutler Lab
Gene Symbol Atp9b
Ensembl Gene ENSMUSG00000024566
Gene Name ATPase, class II, type 9B
Synonyms IIb
MMRRC Submission 044630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6498 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 80777356-80977275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80820230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 135 (S135N)
Ref Sequence ENSEMBL: ENSMUSP00000153535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000223926] [ENSMUST00000225205] [ENSMUST00000225235] [ENSMUST00000225980] [ENSMUST00000226064]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091790
AA Change: S518N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: S518N

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 probably benign
Transcript: ENSMUST00000223926
Predicted Effect probably benign
Transcript: ENSMUST00000225205
Predicted Effect probably benign
Transcript: ENSMUST00000225235
Predicted Effect probably benign
Transcript: ENSMUST00000225980
AA Change: S518N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000226064
AA Change: S135N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.9%
  • 20x: 89.8%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,182,928 (GRCm39) N1043T possibly damaging Het
Actn2 C T 13: 12,291,359 (GRCm39) E682K probably damaging Het
Agtpbp1 A G 13: 59,624,854 (GRCm39) V833A possibly damaging Het
Arrb2 G T 11: 70,330,375 (GRCm39) R333L probably benign Het
Cep112 T A 11: 108,331,357 (GRCm39) S135R probably benign Het
D630045J12Rik G A 6: 38,124,132 (GRCm39) R1607* probably null Het
Duox1 A T 2: 122,150,088 (GRCm39) S160C probably damaging Het
Eogt A T 6: 97,112,174 (GRCm39) Y160N probably damaging Het
Exosc10 T C 4: 148,657,795 (GRCm39) V647A probably benign Het
Fbxo44 C T 4: 148,238,882 (GRCm39) Het
Fen1 G T 19: 10,177,479 (GRCm39) R322S probably damaging Het
Gls A C 1: 52,259,198 (GRCm39) N134K probably benign Het
Hspg2 T C 4: 137,235,112 (GRCm39) V82A possibly damaging Het
Il33 G A 19: 29,927,137 (GRCm39) E23K probably benign Het
Macroh2a2 C A 10: 61,593,614 (GRCm39) V21F probably damaging Het
Map2k5 C A 9: 63,193,683 (GRCm39) A266S possibly damaging Het
Or13g1 T C 7: 85,956,226 (GRCm39) I32V probably benign Het
Or2t29 T A 11: 58,433,408 (GRCm39) N298I probably damaging Het
Or5p61 C T 7: 107,758,639 (GRCm39) C147Y probably benign Het
Pcdh1 G A 18: 38,330,490 (GRCm39) P838S probably benign Het
Pcdha5 A G 18: 37,095,768 (GRCm39) E759G possibly damaging Het
Pclo T C 5: 14,719,505 (GRCm39) I1214T unknown Het
Per3 T C 4: 151,113,662 (GRCm39) I299V probably benign Het
Pls1 A G 9: 95,636,798 (GRCm39) I558T probably damaging Het
Synpo2 A T 3: 122,873,881 (GRCm39) probably null Het
Sys1 G A 2: 164,306,438 (GRCm39) A131T probably benign Het
Tekt2 A G 4: 126,218,098 (GRCm39) L138P probably benign Het
Tmprss12 T A 15: 100,183,133 (GRCm39) N158K probably damaging Het
Tnrc18 A T 5: 142,717,923 (GRCm39) M2177K unknown Het
Trim43a T A 9: 88,464,395 (GRCm39) I102N probably damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Utrn C T 10: 12,317,837 (GRCm39) C498Y probably benign Het
Vmn1r39 A T 6: 66,781,841 (GRCm39) V159D probably damaging Het
Vmn1r44 A G 6: 89,870,562 (GRCm39) T103A probably benign Het
Wsb1 A T 11: 79,139,315 (GRCm39) V127D probably damaging Het
Zfp268 T A 4: 145,349,459 (GRCm39) C299S probably damaging 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
IGL02981:Atp9b APN 18 80,797,504 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- AAAGTCTTGGTCTGCTTCAGC -3'
(R):5'- GGAACATGTCGGGCTTTAAATATC -3'

Sequencing Primer
(F):5'- CAAACTCAGTCTCCCCAGTGATG -3'
(R):5'- ACATGTCGGGCTTTAAATATCATAAC -3'
Posted On 2018-06-06