Incidental Mutation 'IGL03297:Ano6'
ID 416136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano6
Ensembl Gene ENSMUSG00000064210
Gene Name anoctamin 6
Synonyms F730003B03Rik, 2900059G15Rik, Tmem16f
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # IGL03297
Quality Score
Status
Chromosome 15
Chromosomal Location 95688724-95872632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95860158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 760 (T760N)
Ref Sequence ENSEMBL: ENSMUSP00000153954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071874] [ENSMUST00000227151] [ENSMUST00000227791]
AlphaFold Q6P9J9
Predicted Effect probably damaging
Transcript: ENSMUST00000071874
AA Change: T739N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: T739N

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
Pfam:Anoct_dimer 63 285 4.5e-70 PFAM
Pfam:Anoctamin 288 872 3.3e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227151
Predicted Effect probably damaging
Transcript: ENSMUST00000227791
AA Change: T760N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired platelet coagulation with increased bleeding time. Mice homozygous for a different knock out allele or gene trap exhibit decreased bone mineral deposition and skeletal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,341,663 (GRCm39) G1624S probably damaging Het
Adhfe1 A G 1: 9,620,173 (GRCm39) probably benign Het
Camsap2 T C 1: 136,225,539 (GRCm39) M196V probably benign Het
Cd209d T C 8: 3,928,476 (GRCm39) D3G possibly damaging Het
Cdh5 T A 8: 104,854,831 (GRCm39) F253Y probably damaging Het
Cnot10 T C 9: 114,427,784 (GRCm39) E610G possibly damaging Het
Cnot4 T C 6: 35,001,158 (GRCm39) N579S probably benign Het
Csmd1 G T 8: 16,059,432 (GRCm39) S2101* probably null Het
Dgkq C A 5: 108,798,140 (GRCm39) R706L probably damaging Het
Gm5422 T C 10: 31,125,727 (GRCm39) noncoding transcript Het
Gpr34 A G X: 13,505,681 (GRCm39) Y70C probably damaging Het
Herc6 T A 6: 57,639,374 (GRCm39) L914Q probably benign Het
Ifitm6 T C 7: 140,595,948 (GRCm39) Y115C probably damaging Het
Iqcg G T 16: 32,856,002 (GRCm39) probably benign Het
Myo15a A G 11: 60,369,967 (GRCm39) D909G probably damaging Het
Nefl A G 14: 68,321,673 (GRCm39) T88A possibly damaging Het
Nfatc2 T A 2: 168,378,138 (GRCm39) N509I probably damaging Het
Nkd1 T C 8: 89,300,902 (GRCm39) probably benign Het
Npas2 T C 1: 39,331,771 (GRCm39) V62A possibly damaging Het
Oas2 T G 5: 120,873,150 (GRCm39) D635A possibly damaging Het
Obscn C T 11: 58,951,712 (GRCm39) V4014M possibly damaging Het
Ogfr C A 2: 180,236,200 (GRCm39) H262N possibly damaging Het
Or10aa1 T G 1: 173,869,683 (GRCm39) S56A probably benign Het
Or8b49 A T 9: 38,505,821 (GRCm39) L101F probably benign Het
Pa2g4 T C 10: 128,399,105 (GRCm39) D104G probably damaging Het
Parp11 T C 6: 127,467,045 (GRCm39) probably benign Het
Ppp2r5a C T 1: 191,086,959 (GRCm39) V360I probably benign Het
Ptpn13 A T 5: 103,688,943 (GRCm39) K912I probably benign Het
Sec16a A G 2: 26,329,202 (GRCm39) S938P probably benign Het
Slc15a1 A C 14: 121,724,096 (GRCm39) I170S probably damaging Het
Smchd1 T C 17: 71,656,695 (GRCm39) N1924S probably benign Het
Sprr4 G A 3: 92,407,731 (GRCm39) P24S unknown Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Tyw1 C T 5: 130,369,575 (GRCm39) A687V probably damaging Het
Vmn2r14 T A 5: 109,363,973 (GRCm39) I648F probably damaging Het
Vmn2r78 T A 7: 86,569,969 (GRCm39) C162* probably null Het
Other mutations in Ano6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Ano6 APN 15 95,846,310 (GRCm39) missense probably damaging 1.00
IGL01308:Ano6 APN 15 95,811,542 (GRCm39) splice site probably null
IGL01490:Ano6 APN 15 95,846,291 (GRCm39) missense probably benign 0.08
IGL01663:Ano6 APN 15 95,865,495 (GRCm39) splice site probably null
IGL01783:Ano6 APN 15 95,860,143 (GRCm39) missense possibly damaging 0.94
IGL02040:Ano6 APN 15 95,853,825 (GRCm39) missense probably benign 0.00
IGL02114:Ano6 APN 15 95,841,341 (GRCm39) missense probably damaging 0.96
IGL02683:Ano6 APN 15 95,846,193 (GRCm39) missense probably damaging 1.00
IGL03401:Ano6 APN 15 95,847,786 (GRCm39) missense probably damaging 1.00
R0730:Ano6 UTSW 15 95,818,252 (GRCm39) missense probably damaging 1.00
R1086:Ano6 UTSW 15 95,847,843 (GRCm39) splice site probably null
R1264:Ano6 UTSW 15 95,847,447 (GRCm39) missense probably damaging 1.00
R1421:Ano6 UTSW 15 95,811,266 (GRCm39) missense probably benign 0.13
R1494:Ano6 UTSW 15 95,870,388 (GRCm39) missense probably damaging 0.98
R1755:Ano6 UTSW 15 95,870,451 (GRCm39) missense possibly damaging 0.74
R1757:Ano6 UTSW 15 95,860,148 (GRCm39) missense probably damaging 1.00
R2042:Ano6 UTSW 15 95,853,904 (GRCm39) critical splice donor site probably null
R2393:Ano6 UTSW 15 95,863,906 (GRCm39) critical splice donor site probably benign
R2415:Ano6 UTSW 15 95,860,161 (GRCm39) missense probably damaging 1.00
R2483:Ano6 UTSW 15 95,863,855 (GRCm39) missense probably benign 0.00
R2879:Ano6 UTSW 15 95,841,308 (GRCm39) nonsense probably null
R3440:Ano6 UTSW 15 95,865,602 (GRCm39) missense probably damaging 1.00
R3716:Ano6 UTSW 15 95,811,260 (GRCm39) missense probably damaging 1.00
R3717:Ano6 UTSW 15 95,811,260 (GRCm39) missense probably damaging 1.00
R3718:Ano6 UTSW 15 95,811,260 (GRCm39) missense probably damaging 1.00
R3887:Ano6 UTSW 15 95,792,330 (GRCm39) missense possibly damaging 0.64
R4175:Ano6 UTSW 15 95,860,050 (GRCm39) missense probably damaging 1.00
R4214:Ano6 UTSW 15 95,863,790 (GRCm39) missense probably benign
R4591:Ano6 UTSW 15 95,841,308 (GRCm39) nonsense probably null
R5249:Ano6 UTSW 15 95,811,469 (GRCm39) missense probably benign 0.35
R5383:Ano6 UTSW 15 95,813,918 (GRCm39) missense probably benign 0.00
R5496:Ano6 UTSW 15 95,865,495 (GRCm39) splice site probably null
R5532:Ano6 UTSW 15 95,860,122 (GRCm39) missense probably damaging 1.00
R5598:Ano6 UTSW 15 95,839,228 (GRCm39) missense probably damaging 1.00
R5645:Ano6 UTSW 15 95,818,232 (GRCm39) missense probably benign 0.03
R5739:Ano6 UTSW 15 95,811,260 (GRCm39) missense probably damaging 1.00
R5794:Ano6 UTSW 15 95,792,405 (GRCm39) missense probably benign 0.00
R5864:Ano6 UTSW 15 95,818,261 (GRCm39) critical splice donor site probably null
R5936:Ano6 UTSW 15 95,870,482 (GRCm39) missense probably damaging 1.00
R5937:Ano6 UTSW 15 95,811,838 (GRCm39) missense probably damaging 0.98
R6063:Ano6 UTSW 15 95,846,298 (GRCm39) missense probably damaging 1.00
R6191:Ano6 UTSW 15 95,846,380 (GRCm39) critical splice donor site probably null
R6275:Ano6 UTSW 15 95,811,314 (GRCm39) missense probably damaging 1.00
R6349:Ano6 UTSW 15 95,863,903 (GRCm39) missense probably damaging 0.97
R6468:Ano6 UTSW 15 95,865,595 (GRCm39) missense probably benign 0.01
R6734:Ano6 UTSW 15 95,847,417 (GRCm39) missense probably damaging 0.99
R6830:Ano6 UTSW 15 95,792,342 (GRCm39) missense probably damaging 1.00
R6883:Ano6 UTSW 15 95,859,992 (GRCm39) missense probably damaging 1.00
R6892:Ano6 UTSW 15 95,865,505 (GRCm39) missense probably damaging 1.00
R7171:Ano6 UTSW 15 95,818,172 (GRCm39) missense probably damaging 1.00
R7271:Ano6 UTSW 15 95,811,781 (GRCm39) missense probably damaging 1.00
R7284:Ano6 UTSW 15 95,846,184 (GRCm39) missense probably damaging 1.00
R7326:Ano6 UTSW 15 95,762,125 (GRCm39) missense possibly damaging 0.95
R7937:Ano6 UTSW 15 95,870,470 (GRCm39) missense probably damaging 1.00
R7944:Ano6 UTSW 15 95,839,190 (GRCm39) missense probably damaging 1.00
R7945:Ano6 UTSW 15 95,839,190 (GRCm39) missense probably damaging 1.00
R7954:Ano6 UTSW 15 95,863,702 (GRCm39) missense possibly damaging 0.93
R8496:Ano6 UTSW 15 95,847,807 (GRCm39) missense probably damaging 1.00
R8903:Ano6 UTSW 15 95,825,463 (GRCm39) missense probably benign 0.05
R8923:Ano6 UTSW 15 95,811,428 (GRCm39) missense probably damaging 1.00
R8980:Ano6 UTSW 15 95,865,563 (GRCm39) missense probably damaging 1.00
R9241:Ano6 UTSW 15 95,688,887 (GRCm39) missense probably benign 0.04
X0066:Ano6 UTSW 15 95,841,315 (GRCm39) missense probably damaging 0.99
Z1176:Ano6 UTSW 15 95,811,341 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02