Incidental Mutation 'IGL02560:Atp9b'
ID298196
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp9b
Ensembl Gene ENSMUSG00000024566
Gene NameATPase, class II, type 9B
SynonymsIIb
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL02560
Quality Score
Status
Chromosome18
Chromosomal Location80734141-80934058 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80762198 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 715 (D715G)
Ref Sequence ENSEMBL: ENSMUSP00000153157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000225205] [ENSMUST00000225235] [ENSMUST00000225980] [ENSMUST00000226064]
Predicted Effect probably benign
Transcript: ENSMUST00000091790
AA Change: D715G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: D715G

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: ENSMUST00000225205
Predicted Effect probably benign
Transcript: ENSMUST00000225235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225692
Predicted Effect probably benign
Transcript: ENSMUST00000225980
AA Change: D715G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000226064
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,866 noncoding transcript Het
Ano4 C T 10: 88,978,741 W660* probably null Het
Catsper1 T C 19: 5,336,188 S150P possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn19 G A 4: 119,255,724 W51* probably null Het
Ddx31 T C 2: 28,875,826 I512T probably damaging Het
Dsc2 G T 18: 20,045,539 D269E probably damaging Het
Dsg1b T C 18: 20,409,178 V914A possibly damaging Het
Etl4 A G 2: 20,743,718 E420G probably damaging Het
Foxa2 A G 2: 148,044,031 L113P probably benign Het
Gm6034 T G 17: 36,056,464 probably benign Het
Gtf3c4 A T 2: 28,834,267 Y343* probably null Het
Hhip A T 8: 79,987,009 Y563N probably damaging Het
Ighg2c A T 12: 113,287,884 C208S unknown Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Myb A T 10: 21,152,448 L172Q probably damaging Het
Nipal3 A T 4: 135,479,704 Y60N probably damaging Het
Npas2 A T 1: 39,333,961 probably benign Het
Olfr1008 T A 2: 85,689,519 V30D possibly damaging Het
Olfr1089 A T 2: 86,733,234 I126N probably damaging Het
Olfr196 G T 16: 59,167,528 S205* probably null Het
Pdxdc1 T C 16: 13,839,732 D532G probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Senp5 A G 16: 31,989,392 V348A probably benign Het
Slc25a37 T C 14: 69,245,292 T187A probably benign Het
Svil A G 18: 5,049,379 I219V probably benign Het
Tcf4 A G 18: 69,643,022 probably benign Het
Tex15 T C 8: 33,581,751 V2442A probably benign Het
Tomm70a T C 16: 57,149,849 L530S probably benign Het
Wscd2 A T 5: 113,560,984 D200V probably benign Het
Zfp952 C T 17: 33,002,819 Q53* probably null Het
Other mutations in Atp9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Atp9b APN 18 80917888 intron probably benign
IGL00769:Atp9b APN 18 80912853 missense probably benign 0.08
IGL00851:Atp9b APN 18 80765910 missense probably damaging 1.00
IGL01529:Atp9b APN 18 80844611 intron probably benign
IGL01637:Atp9b APN 18 80756455 missense probably benign 0.06
IGL01973:Atp9b APN 18 80758303 missense probably benign 0.02
IGL02082:Atp9b APN 18 80891930 intron probably benign
IGL02981:Atp9b APN 18 80754289 missense possibly damaging 0.93
IGL03151:Atp9b APN 18 80776850 missense probably benign 0.28
IGL03304:Atp9b APN 18 80917877 missense probably damaging 1.00
IGL03348:Atp9b APN 18 80836422 missense possibly damaging 0.88
R0056:Atp9b UTSW 18 80765803 missense probably damaging 0.99
R0355:Atp9b UTSW 18 80909585 intron probably benign
R0366:Atp9b UTSW 18 80762102 missense probably damaging 1.00
R0557:Atp9b UTSW 18 80765922 missense probably damaging 1.00
R0612:Atp9b UTSW 18 80753956 missense possibly damaging 0.81
R1099:Atp9b UTSW 18 80858626 missense probably damaging 1.00
R1126:Atp9b UTSW 18 80778954 missense probably damaging 1.00
R1499:Atp9b UTSW 18 80762138 missense probably damaging 0.99
R1499:Atp9b UTSW 18 80778907 missense probably benign 0.02
R1764:Atp9b UTSW 18 80909591 critical splice donor site probably null
R1780:Atp9b UTSW 18 80776897 nonsense probably null
R1782:Atp9b UTSW 18 80765922 missense probably damaging 1.00
R1835:Atp9b UTSW 18 80778883 missense probably benign 0.00
R1859:Atp9b UTSW 18 80749920 missense possibly damaging 0.95
R1953:Atp9b UTSW 18 80754307 missense possibly damaging 0.80
R2140:Atp9b UTSW 18 80736087 missense probably damaging 0.99
R2191:Atp9b UTSW 18 80753051 missense probably damaging 1.00
R4118:Atp9b UTSW 18 80749829 missense possibly damaging 0.83
R4605:Atp9b UTSW 18 80753149 critical splice acceptor site probably null
R4654:Atp9b UTSW 18 80891878 missense probably benign 0.00
R4767:Atp9b UTSW 18 80753070 missense probably damaging 1.00
R4775:Atp9b UTSW 18 80765769 critical splice donor site probably null
R4936:Atp9b UTSW 18 80736093 missense possibly damaging 0.58
R5096:Atp9b UTSW 18 80762184 missense probably benign 0.39
R5279:Atp9b UTSW 18 80912858 missense probably damaging 0.98
R5394:Atp9b UTSW 18 80776837 missense probably benign 0.16
R5774:Atp9b UTSW 18 80933932 missense probably damaging 0.96
R5877:Atp9b UTSW 18 80752789 missense probably benign
R6080:Atp9b UTSW 18 80738808 missense probably benign 0.03
R6170:Atp9b UTSW 18 80877347 missense probably benign 0.16
R6250:Atp9b UTSW 18 80756521 missense probably benign 0.01
R6340:Atp9b UTSW 18 80778900 missense probably benign 0.38
R6498:Atp9b UTSW 18 80777015 missense probably benign 0.03
R6620:Atp9b UTSW 18 80808687 nonsense probably null
R6632:Atp9b UTSW 18 80808649 missense probably damaging 1.00
R6665:Atp9b UTSW 18 80917735 missense probably benign 0.26
R6821:Atp9b UTSW 18 80847248 missense probably damaging 1.00
R6927:Atp9b UTSW 18 80891857 missense possibly damaging 0.63
R6977:Atp9b UTSW 18 80753102 missense probably damaging 1.00
R7133:Atp9b UTSW 18 80909656 missense
R7188:Atp9b UTSW 18 80917826 missense
R7396:Atp9b UTSW 18 80736842 missense
R7432:Atp9b UTSW 18 80765841 missense
R7457:Atp9b UTSW 18 80917618 intron probably null
R7877:Atp9b UTSW 18 80847197 missense
R7960:Atp9b UTSW 18 80847197 missense
R8072:Atp9b UTSW 18 80765061 missense
Z1176:Atp9b UTSW 18 80765865 missense
Posted On2015-04-16