Incidental Mutation 'IGL00578:Atp11c'
ID3123
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 #IGL00578
Quality Score
Status
ChromosomeX
Chromosomal Location60223290-60592698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 60240817 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 996 (G996R)
Ref Sequence ENSEMBL: ENSMUSP00000119320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033480] [ENSMUST00000101527] [ENSMUST00000154051]
Predicted Effect probably damaging
Transcript: ENSMUST00000033480
AA Change: G996R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033480
Gene: ENSMUSG00000062949
AA Change: G996R

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 probably damaging
Transcript: ENSMUST00000101527
AA Change: G996R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099066
Gene: ENSMUSG00000062949
AA Change: G996R

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: G996R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949
AA Change: G996R

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,871,787 T729A possibly damaging Het
Ank3 C A 10: 70,002,394 S864Y possibly damaging Het
Ankrd44 G A 1: 54,662,647 probably benign Het
AW549877 C A 15: 3,988,636 G186C probably damaging Het
Col11a1 A G 3: 114,194,106 T250A possibly damaging Het
Cox8a T A 19: 7,215,405 Y65F probably damaging Het
Ctnnd1 G T 2: 84,609,625 N451K probably damaging Het
D630045J12Rik T C 6: 38,194,930 T768A probably benign Het
Esyt1 A G 10: 128,511,743 S999P probably damaging Het
Fyco1 A G 9: 123,838,897 I88T probably damaging Het
Kdm2b A G 5: 122,961,567 V103A probably damaging Het
Klk1b26 T C 7: 44,016,885 S251P probably benign Het
Krtap16-1 A G 11: 99,985,295 S428P probably benign Het
Lrp1b C T 2: 40,679,173 V210I unknown Het
Mapk8ip3 A T 17: 24,900,819 D1018E probably damaging Het
Nxph2 T A 2: 23,400,322 C229S probably damaging Het
Prickle1 A G 15: 93,500,781 L722P probably benign Het
Rbm12 A T 2: 156,096,041 probably benign Het
Sfpq T C 4: 127,025,907 Y482H probably damaging Het
Sycp2 T C 2: 178,350,822 probably benign Het
Unc5b A G 10: 60,767,055 I866T probably damaging Het
Other mutations in Atp11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
18nih30a APN X 36608577 unclassified probably benign
ambrosius APN X 36608577 unclassified probably benign
IGL01702:Atp11c APN X 60269903 missense probably damaging 0.96
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 On2012-04-20