Incidental Mutation 'R6080:Atp9b'
ID 482903
Institutional Source Beutler Lab
Gene Symbol Atp9b
Ensembl Gene ENSMUSG00000024566
Gene Name ATPase, class II, type 9B
Synonyms IIb
MMRRC Submission 044239-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6080 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 80777356-80977275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80782023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1039 (V1039A)
Ref Sequence ENSEMBL: ENSMUSP00000153157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000225235] [ENSMUST00000225980]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000091790
AA Change: V1039A
SMART Domains Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: V1039A

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: ENSMUST00000225075
Predicted Effect unknown
Transcript: ENSMUST00000225092
AA Change: V95A
Predicted Effect probably benign
Transcript: ENSMUST00000225218
Predicted Effect probably benign
Transcript: ENSMUST00000225235
Predicted Effect probably benign
Transcript: ENSMUST00000225980
AA Change: V1039A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,906,462 (GRCm39) M44I possibly damaging Het
Anks1b C A 10: 90,802,211 (GRCm39) S1209* probably null Het
Bltp3a T C 17: 28,099,271 (GRCm39) S278P probably benign Het
Cep44 T C 8: 56,992,876 (GRCm39) K246R possibly damaging Het
Cfap54 A T 10: 92,881,197 (GRCm39) D330E possibly damaging Het
Dnah10 A T 5: 124,882,961 (GRCm39) M2940L possibly damaging Het
Gm14326 T A 2: 177,578,339 (GRCm39) T68S probably benign Het
Gm4922 A C 10: 18,660,500 (GRCm39) I74S probably damaging Het
Ints14 G A 9: 64,874,044 (GRCm39) V99I probably benign Het
Lrp4 T C 2: 91,332,345 (GRCm39) S1681P probably benign Het
Lrp5 T C 19: 3,678,316 (GRCm39) E513G probably benign Het
Myh14 T A 7: 44,305,035 (GRCm39) N252I probably damaging Het
Naga A G 15: 82,219,048 (GRCm39) V233A probably benign Het
Npc1 C T 18: 12,352,408 (GRCm39) C97Y probably damaging Het
Or4f15 T G 2: 111,814,050 (GRCm39) Y123S probably damaging Het
Or52n4 T C 7: 104,294,517 (GRCm39) I19V probably benign Het
Or56a3b T C 7: 104,771,116 (GRCm39) F151L probably benign Het
Or9i2 C A 19: 13,816,464 (GRCm39) L24F possibly damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Plag1 T C 4: 3,903,815 (GRCm39) T459A probably benign Het
Rnase9 T C 14: 51,276,727 (GRCm39) T84A probably benign Het
Rps6kb2 T A 19: 4,208,671 (GRCm39) I282F probably benign Het
Smg5 A G 3: 88,258,816 (GRCm39) T596A probably benign Het
Ugcg T C 4: 59,218,524 (GRCm39) V256A possibly damaging Het
Vgll4 T C 6: 114,898,299 (GRCm39) I21V probably benign Het
Vipas39 T A 12: 87,288,727 (GRCm39) H426L probably damaging Het
Vmn1r224 A G 17: 20,639,818 (GRCm39) T132A possibly damaging Het
Zc3h18 A G 8: 123,143,283 (GRCm39) probably benign Het
Zfp606 T A 7: 12,228,043 (GRCm39) N663K probably damaging Het
Zfp819 A G 7: 43,266,120 (GRCm39) H201R probably benign Het
Zfp946 T A 17: 22,674,090 (GRCm39) H281Q probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAGGGCTAAGGATCACTTGC -3'
(R):5'- TCCCTGTGAAGACTGTCTGTG -3'

Sequencing Primer
(F):5'- CTTGCAGATAATGAATCGAGGCTCC -3'
(R):5'- AAGACTGTCTGTGTTCTGGCCC -3'
Posted On 2017-07-14