Incidental Mutation 'IGL02606:Atp9a'
ID300269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp9a
Ensembl Gene ENSMUSG00000027546
Gene NameATPase, class II, type 9A
SynonymsClass II, IIa
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02606
Quality Score
Status
Chromosome2
Chromosomal Location168634438-168742409 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 168652668 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 639 (L639Q)
Ref Sequence ENSEMBL: ENSMUSP00000136793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029060] [ENSMUST00000109175] [ENSMUST00000109176] [ENSMUST00000109177] [ENSMUST00000178504]
Predicted Effect probably damaging
Transcript: ENSMUST00000029060
AA Change: L639Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: L639Q

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
Pfam:E1-E2_ATPase 108 368 7.4e-21 PFAM
Pfam:Hydrolase 385 797 1.5e-19 PFAM
Pfam:HAD 388 794 1.1e-14 PFAM
Pfam:Hydrolase_like2 464 579 3.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109175
AA Change: L623Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: L623Q

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
Pfam:E1-E2_ATPase 92 352 7.2e-21 PFAM
Pfam:Hydrolase 369 781 1.4e-19 PFAM
Pfam:HAD 372 778 1.1e-14 PFAM
Pfam:Hydrolase_like2 448 563 3.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109176
AA Change: L697Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: L697Q

DomainStartEndE-ValueType
low complexity region 18 57 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 97 163 1.9e-20 PFAM
Pfam:E1-E2_ATPase 166 418 5.8e-13 PFAM
Pfam:Hydrolase 443 855 2.8e-13 PFAM
Pfam:HAD 446 852 2.4e-14 PFAM
Pfam:Cation_ATPase 522 635 1.5e-6 PFAM
Pfam:PhoLip_ATPase_C 869 1098 1.7e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109177
AA Change: L621Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: L621Q

DomainStartEndE-ValueType
low complexity region 55 70 N/A INTRINSIC
Pfam:E1-E2_ATPase 90 350 7.2e-21 PFAM
Pfam:Hydrolase 367 779 1.4e-19 PFAM
Pfam:HAD 370 776 1.1e-14 PFAM
Pfam:Hydrolase_like2 446 561 3.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178504
AA Change: L639Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: L639Q

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
Pfam:E1-E2_ATPase 108 368 7.4e-21 PFAM
Pfam:Hydrolase 385 797 1.5e-19 PFAM
Pfam:HAD 388 794 1.1e-14 PFAM
Pfam:Hydrolase_like2 464 579 3.4e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,242,781 N74I probably benign Het
Abr T C 11: 76,479,164 K75R probably damaging Het
Adcy10 A C 1: 165,519,518 D368A possibly damaging Het
Alas1 A G 9: 106,241,110 probably benign Het
Alms1 T A 6: 85,599,967 D168E probably benign Het
Ankar C T 1: 72,690,285 A82T possibly damaging Het
Atp2c2 C T 8: 119,730,274 T205I probably benign Het
Btf3l4 T C 4: 108,818,214 D134G probably benign Het
Cacna1s T C 1: 136,079,519 C425R probably damaging Het
Ccdc105 A G 10: 78,748,466 Y372H probably benign Het
Cct6b G T 11: 82,736,445 T322N probably damaging Het
Col19a1 G A 1: 24,534,116 R192* probably null Het
Cyp8b1 A T 9: 121,915,735 F177Y probably damaging Het
Dnajc11 T A 4: 151,979,484 N474K probably benign Het
Dusp16 T C 6: 134,761,036 E13G probably damaging Het
Ephx2 T C 14: 66,086,292 N397S probably damaging Het
Fancm T C 12: 65,076,139 V145A possibly damaging Het
Fiz1 A G 7: 5,009,159 L120P possibly damaging Het
Galnt6 C T 15: 100,714,219 V181M probably damaging Het
Ginm1 A G 10: 7,770,399 V279A probably damaging Het
Gja10 T G 4: 32,601,509 I292L probably benign Het
Gnb3 T C 6: 124,837,415 S136G probably benign Het
Gramd1a A T 7: 31,134,515 V495E probably damaging Het
Il1rn G T 2: 24,345,450 probably benign Het
Itpr3 A G 17: 27,114,512 probably benign Het
Kctd1 A G 18: 15,062,880 S229P possibly damaging Het
Kdm4a T C 4: 118,160,289 T527A probably benign Het
Kif14 C T 1: 136,496,593 A982V probably damaging Het
Klf6 A G 13: 5,866,735 K293R probably damaging Het
Letmd1 A G 15: 100,475,091 D92G probably damaging Het
Lmod1 G A 1: 135,364,480 V358M probably benign Het
Ndufs1 A T 1: 63,159,852 D295E probably damaging Het
Nek4 A G 14: 30,963,959 N283S probably benign Het
Nhsl1 A G 10: 18,511,637 T220A probably damaging Het
Nucks1 T A 1: 131,924,625 D71E probably damaging Het
Olfr1537 C A 9: 39,238,194 V77F probably damaging Het
Olfr732 T C 14: 50,282,073 Y60C probably damaging Het
Pkhd1l1 A G 15: 44,589,456 T3926A probably benign Het
Pptc7 T A 5: 122,313,588 probably benign Het
Prdm11 A G 2: 92,975,603 V334A probably benign Het
Ptdss2 C A 7: 141,152,998 C231* probably null Het
R3hdm1 C T 1: 128,190,719 P570S probably benign Het
Rlbp1 T C 7: 79,377,289 T208A possibly damaging Het
Rnaseh2a T G 8: 84,960,094 D142A probably damaging Het
Rufy4 C T 1: 74,133,350 probably benign Het
Tmem56 G T 3: 121,228,364 D128E possibly damaging Het
Ttn A G 2: 76,816,221 I11081T possibly damaging Het
Ubap2l A T 3: 90,038,428 S173R probably damaging Het
Vmn1r80 A G 7: 12,193,032 N23S probably damaging Het
Vwce C A 19: 10,655,348 probably benign Het
Other mutations in Atp9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Atp9a APN 2 168640680 missense probably benign 0.24
IGL01594:Atp9a APN 2 168691012 missense probably damaging 1.00
IGL01911:Atp9a APN 2 168653561 missense probably damaging 1.00
IGL02639:Atp9a APN 2 168649620 missense probably damaging 1.00
IGL03011:Atp9a APN 2 168652632 missense probably damaging 1.00
IGL03294:Atp9a APN 2 168689305 missense probably benign 0.04
IGL03310:Atp9a APN 2 168639959 missense probably damaging 1.00
R0114:Atp9a UTSW 2 168710856 nonsense probably null
R0194:Atp9a UTSW 2 168643885 missense probably benign 0.00
R0427:Atp9a UTSW 2 168640697 critical splice acceptor site probably null
R0508:Atp9a UTSW 2 168649526 splice site probably null
R1611:Atp9a UTSW 2 168673569 missense probably damaging 1.00
R2120:Atp9a UTSW 2 168653537 missense probably damaging 1.00
R2330:Atp9a UTSW 2 168639929 missense probably benign 0.01
R2348:Atp9a UTSW 2 168710826 splice site probably benign
R2404:Atp9a UTSW 2 168675363 critical splice acceptor site probably null
R2881:Atp9a UTSW 2 168706214 missense probably damaging 1.00
R2882:Atp9a UTSW 2 168706214 missense probably damaging 1.00
R4029:Atp9a UTSW 2 168689325 missense probably damaging 1.00
R4371:Atp9a UTSW 2 168649615 missense probably damaging 1.00
R4411:Atp9a UTSW 2 168661933 missense probably damaging 1.00
R4446:Atp9a UTSW 2 168681997 missense possibly damaging 0.75
R4583:Atp9a UTSW 2 168689360 splice site probably null
R4626:Atp9a UTSW 2 168639943 missense probably damaging 1.00
R4661:Atp9a UTSW 2 168637672 missense possibly damaging 0.52
R4679:Atp9a UTSW 2 168661964 missense possibly damaging 0.95
R4738:Atp9a UTSW 2 168668181 missense probably benign
R5191:Atp9a UTSW 2 168662063 missense possibly damaging 0.51
R5216:Atp9a UTSW 2 168674888 missense probably benign 0.38
R5280:Atp9a UTSW 2 168639988 missense possibly damaging 0.66
R5509:Atp9a UTSW 2 168639937 missense probably damaging 1.00
R5798:Atp9a UTSW 2 168690964 critical splice donor site probably null
R5807:Atp9a UTSW 2 168653534 missense probably damaging 0.98
R5926:Atp9a UTSW 2 168706271 missense probably damaging 1.00
R6046:Atp9a UTSW 2 168634870 missense probably benign 0.42
R6244:Atp9a UTSW 2 168689352 critical splice acceptor site probably null
R6307:Atp9a UTSW 2 168668170 missense probably benign 0.02
R6345:Atp9a UTSW 2 168676173 missense probably damaging 0.99
R6442:Atp9a UTSW 2 168649561 missense probably benign 0.01
R6459:Atp9a UTSW 2 168668013 missense probably damaging 1.00
R6769:Atp9a UTSW 2 168674900 missense probably damaging 1.00
R6771:Atp9a UTSW 2 168674900 missense probably damaging 1.00
R6841:Atp9a UTSW 2 168654220 missense possibly damaging 0.87
R7271:Atp9a UTSW 2 168734127
Posted On2015-04-16