Incidental Mutation 'IGL01296:Atp10a'
ID73107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp10a
Ensembl Gene ENSMUSG00000025324
Gene NameATPase, class V, type 10A
SynonymsAtp10c, pfatp
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.362) question?
Stock #IGL01296
Quality Score
Status
Chromosome7
Chromosomal Location58656166-58829420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58813625 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 969 (F969I)
Ref Sequence ENSEMBL: ENSMUSP00000129811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168747]
Predicted Effect probably benign
Transcript: ENSMUST00000168747
AA Change: F969I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: F969I

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 55 114 5.2e-23 PFAM
Pfam:E1-E2_ATPase 120 393 6.6e-10 PFAM
low complexity region 633 643 N/A INTRINSIC
Pfam:Cation_ATPase 685 791 1.5e-7 PFAM
Pfam:HAD 697 1054 2.1e-12 PFAM
Pfam:PhoLip_ATPase_C 1071 1316 1.1e-76 PFAM
low complexity region 1458 1477 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,841,705 S301P probably damaging Het
Adam34 A G 8: 43,651,141 V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 T617I probably damaging Het
Aggf1 T C 13: 95,353,971 D605G probably damaging Het
Becn1 A T 11: 101,291,451 N97K probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Crtac1 A T 19: 42,284,213 C578S probably damaging Het
Dcp1b A G 6: 119,215,358 K412E probably damaging Het
Dlg2 T A 7: 91,940,059 I327N probably damaging Het
Ehf T A 2: 103,268,155 probably null Het
Elavl4 T C 4: 110,206,612 N264S probably benign Het
Enpp2 A T 15: 54,875,669 I406N probably damaging Het
F10 A T 8: 13,055,383 Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 V546A probably benign Het
Fras1 A T 5: 96,673,698 Q1438L probably null Het
Gm43638 T C 5: 87,460,592 I463V probably benign Het
Gm597 T C 1: 28,777,056 I632V probably benign Het
H2-T10 T C 17: 36,120,710 D84G probably benign Het
Itpr1 T C 6: 108,399,361 F1262L probably damaging Het
Lama1 A G 17: 67,745,051 N335D probably benign Het
Lasp1 T C 11: 97,836,190 V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 I135L probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Mctp2 T C 7: 72,228,526 K268R probably benign Het
Nbea A T 3: 56,031,536 H710Q probably benign Het
Notch3 G A 17: 32,166,757 R13C unknown Het
Ogfod1 A T 8: 94,055,671 probably benign Het
Olfr1465 A G 19: 13,314,126 L53P probably damaging Het
Olfr339 A G 2: 36,421,704 Y102C probably benign Het
Olfr924 T C 9: 38,848,252 I46T probably damaging Het
Pgm3 A G 9: 86,561,879 V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 I681F probably damaging Het
Prss23 T C 7: 89,509,887 K325E possibly damaging Het
Psmd7 T A 8: 107,586,617 probably benign Het
Rfx2 T A 17: 56,808,317 M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 R1029H probably damaging Het
Sept10 A G 10: 59,166,600 V391A probably benign Het
Skint6 A G 4: 113,236,440 F169L probably benign Het
Slc44a4 C T 17: 34,921,698 T289I probably benign Het
Srl T C 16: 4,497,682 D32G probably damaging Het
Stxbp3-ps T A 19: 9,557,892 noncoding transcript Het
Sult1b1 T C 5: 87,514,956 D295G probably benign Het
Tmprss7 A G 16: 45,684,574 V151A probably damaging Het
Trmo A G 4: 46,387,589 L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 A86T probably benign Het
Zkscan16 A G 4: 58,956,690 H324R possibly damaging Het
Other mutations in Atp10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Atp10a APN 7 58794482 missense probably benign 0.06
IGL00973:Atp10a APN 7 58807470 missense probably damaging 1.00
IGL00984:Atp10a APN 7 58658741 missense probably damaging 1.00
IGL01086:Atp10a APN 7 58824318 missense probably damaging 0.96
IGL01731:Atp10a APN 7 58797562 missense probably benign 0.16
IGL02081:Atp10a APN 7 58827856 missense possibly damaging 0.62
IGL02095:Atp10a APN 7 58807393 missense probably damaging 1.00
IGL02549:Atp10a APN 7 58819733 missense probably benign 0.00
IGL02558:Atp10a APN 7 58819642 missense probably damaging 0.98
IGL02659:Atp10a APN 7 58813631 missense probably benign
IGL02986:Atp10a APN 7 58828721 missense probably benign
IGL03218:Atp10a APN 7 58788448 critical splice donor site probably null
PIT4260001:Atp10a UTSW 7 58791118 nonsense probably null
PIT4445001:Atp10a UTSW 7 58803467 missense probably damaging 0.98
PIT4810001:Atp10a UTSW 7 58813848 missense probably damaging 0.99
R0091:Atp10a UTSW 7 58774046 splice site probably benign
R0349:Atp10a UTSW 7 58803467 missense probably damaging 0.98
R0426:Atp10a UTSW 7 58784734 missense probably benign 0.00
R0609:Atp10a UTSW 7 58819740 splice site probably null
R0722:Atp10a UTSW 7 58816183 missense possibly damaging 0.75
R0741:Atp10a UTSW 7 58828589 missense possibly damaging 0.90
R1172:Atp10a UTSW 7 58803766 missense probably benign 0.05
R1342:Atp10a UTSW 7 58816146 splice site probably benign
R1648:Atp10a UTSW 7 58784827 missense probably damaging 1.00
R1715:Atp10a UTSW 7 58786505 missense probably damaging 0.98
R1737:Atp10a UTSW 7 58827238 splice site probably benign
R1799:Atp10a UTSW 7 58824434 missense probably damaging 1.00
R1909:Atp10a UTSW 7 58828712 missense probably benign 0.12
R1918:Atp10a UTSW 7 58827935 missense possibly damaging 0.82
R2031:Atp10a UTSW 7 58827930 nonsense probably null
R2080:Atp10a UTSW 7 58824327 missense probably damaging 0.97
R2424:Atp10a UTSW 7 58794555 missense probably benign 0.16
R2696:Atp10a UTSW 7 58813618 missense probably benign 0.00
R3932:Atp10a UTSW 7 58827104 missense possibly damaging 0.69
R4198:Atp10a UTSW 7 58813686 missense probably damaging 1.00
R4453:Atp10a UTSW 7 58658500 small deletion probably benign
R4632:Atp10a UTSW 7 58807438 missense possibly damaging 0.48
R4661:Atp10a UTSW 7 58658500 small deletion probably benign
R4782:Atp10a UTSW 7 58791095 missense probably benign
R4888:Atp10a UTSW 7 58785307 missense probably damaging 1.00
R4935:Atp10a UTSW 7 58813764 missense probably damaging 1.00
R5051:Atp10a UTSW 7 58740246 frame shift probably null
R5213:Atp10a UTSW 7 58773983 missense probably damaging 0.99
R5617:Atp10a UTSW 7 58803675 missense probably benign 0.06
R5834:Atp10a UTSW 7 58658618 missense probably benign 0.01
R5885:Atp10a UTSW 7 58813800 missense possibly damaging 0.92
R6013:Atp10a UTSW 7 58797790 missense probably benign 0.05
R6136:Atp10a UTSW 7 58828340 missense probably benign
R6269:Atp10a UTSW 7 58803739 missense possibly damaging 0.51
R6380:Atp10a UTSW 7 58819684 nonsense probably null
R6743:Atp10a UTSW 7 58797814 missense possibly damaging 0.89
R6875:Atp10a UTSW 7 58797352 missense probably benign 0.01
R6975:Atp10a UTSW 7 58773985 missense probably damaging 1.00
R7082:Atp10a UTSW 7 58658819 missense probably damaging 1.00
R7203:Atp10a UTSW 7 58786473 missense probably benign
R7224:Atp10a UTSW 7 58797471 missense probably benign 0.00
R7287:Atp10a UTSW 7 58827269 missense probably damaging 1.00
R7437:Atp10a UTSW 7 58658540 missense unknown
R7474:Atp10a UTSW 7 58658527 missense unknown
R7530:Atp10a UTSW 7 58773976 missense probably benign 0.02
R7561:Atp10a UTSW 7 58827133 missense probably damaging 0.98
R7743:Atp10a UTSW 7 58803709 missense probably damaging 1.00
R7767:Atp10a UTSW 7 58658849 missense probably damaging 1.00
R7861:Atp10a UTSW 7 58788359 missense probably damaging 1.00
R7903:Atp10a UTSW 7 58658822 missense probably damaging 1.00
R7944:Atp10a UTSW 7 58788359 missense probably damaging 1.00
R7986:Atp10a UTSW 7 58658822 missense probably damaging 1.00
R8015:Atp10a UTSW 7 58803497 missense probably benign 0.00
Z1176:Atp10a UTSW 7 58788447 critical splice donor site probably null
Posted On2013-10-07