Incidental Mutation 'IGL01702:Atp11c'
ID104504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp11c
Ensembl Gene ENSMUSG00000062949
Gene NameATPase, class VI, type 11C
SynonymsIg, A330005H02Rik
Accession Numbers

Genbank: NM_001001798; MGI: 1859661

Is this an essential gene? Possibly non essential (E-score: 0.320) question?
Stock #IGL01702
Quality Score
Status
ChromosomeX
Chromosomal Location60223290-60592698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60269903 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 683 (S683T)
Ref Sequence ENSEMBL: ENSMUSP00000119320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033480] [ENSMUST00000101527] [ENSMUST00000154051]
Predicted Effect probably damaging
Transcript: ENSMUST00000033480
AA Change: S683T

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033480
Gene: ENSMUSG00000062949
AA Change: S683T

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Pfam:E1-E2_ATPase 94 379 5.2e-18 PFAM
Pfam:Hydrolase 403 827 1.6e-12 PFAM
Pfam:HAD 406 825 9.2e-21 PFAM
Pfam:Hydrolase_like2 467 576 1.3e-14 PFAM
low complexity region 853 865 N/A INTRINSIC
low complexity region 994 1013 N/A INTRINSIC
low complexity region 1068 1085 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101527
AA Change: S683T

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099066
Gene: ENSMUSG00000062949
AA Change: S683T

DomainStartEndE-ValueType
low complexity region 78 91 N/A INTRINSIC
Pfam:E1-E2_ATPase 94 379 1.2e-17 PFAM
Pfam:Hydrolase 403 827 1.8e-12 PFAM
Pfam:HAD 406 825 1.4e-20 PFAM
Pfam:Hydrolase_like2 467 576 3.7e-14 PFAM
low complexity region 853 865 N/A INTRINSIC
low complexity region 994 1013 N/A INTRINSIC
low complexity region 1068 1085 N/A INTRINSIC
low complexity region 1091 1105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138569
Predicted Effect probably damaging
Transcript: ENSMUST00000154051
AA Change: S683T

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949
AA Change: S683T

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 22 91 2.6e-25 PFAM
Pfam:E1-E2_ATPase 96 371 2.7e-13 PFAM
Pfam:Hydrolase 403 725 2.4e-7 PFAM
Pfam:HAD 406 825 3.4e-19 PFAM
Pfam:Cation_ATPase 467 576 8.6e-14 PFAM
Pfam:PhoLip_ATPase_C 842 1094 3.4e-71 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous or hemizygous for an ENU mutation exhibit decreased B cells associated with arrested adult B cell lymphopoiesis. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,389,686 probably null Het
Asb2 C T 12: 103,335,905 G128E possibly damaging Het
Brinp3 A G 1: 146,751,997 probably benign Het
Cpeb3 A T 19: 37,126,382 M369K possibly damaging Het
Exoc5 A T 14: 49,015,615 C580* probably null Het
Gm9956 A G 10: 56,745,239 Het
Gzmk C T 13: 113,180,550 V32I probably damaging Het
Hsf4 T C 8: 105,271,589 I129T probably damaging Het
Igkv1-115 T A 6: 68,161,532 W40R probably damaging Het
Iqub A T 6: 24,500,313 M314K probably benign Het
Krt83 T C 15: 101,491,218 T78A probably benign Het
Med28 T C 5: 45,525,291 S100P probably benign Het
Prx G A 7: 27,519,787 V1238I probably benign Het
Ptprq T C 10: 107,517,866 N2263S probably benign Het
Rab12 A G 17: 66,519,389 F61S probably damaging Het
Serpinb9d T C 13: 33,203,023 F358S probably damaging Het
Slc25a3 A T 10: 91,118,125 Y242N probably damaging Het
Smtnl1 T C 2: 84,818,690 I73M possibly damaging Het
Tnp1 C A 1: 73,015,718 probably benign Het
Trim5 T C 7: 104,279,431 E101G probably damaging Het
Other mutations in Atp11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
18nih30a APN X 36608577 unclassified probably benign
ambrosius APN X 36608577 unclassified probably benign
IGL00578:Atp11c APN X 60240817 missense probably damaging 1.00
emptyhive UTSW X 60269987 nonsense probably null
hit UTSW X nonsense
spelling UTSW X 60290036 missense probably damaging 1.00
R1551:Atp11c UTSW X 60236712 critical splice acceptor site probably null
R2134:Atp11c UTSW X 60276783 missense probably damaging 1.00
R3687:Atp11c UTSW X 60281644 missense probably benign 0.07
R3688:Atp11c UTSW X 60281644 missense probably benign 0.07
R4496:Atp11c UTSW X 60280744 missense probably damaging 0.97
Posted On2014-01-21