Incidental Mutation 'R1494:Ano6'
ID 163840
Institutional Source Beutler Lab
Gene Symbol Ano6
Ensembl Gene ENSMUSG00000064210
Gene Name anoctamin 6
Synonyms F730003B03Rik, 2900059G15Rik, Tmem16f
MMRRC Submission 039545-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # R1494 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 95688724-95872632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95870388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 848 (S848P)
Ref Sequence ENSEMBL: ENSMUSP00000071770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071874] [ENSMUST00000227151] [ENSMUST00000227791]
AlphaFold Q6P9J9
Predicted Effect probably damaging
Transcript: ENSMUST00000071874
AA Change: S848P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071770
Gene: ENSMUSG00000064210
AA Change: S848P

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 noncoding transcript
Transcript: ENSMUST00000227616
Predicted Effect probably damaging
Transcript: ENSMUST00000227791
AA Change: S869P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Meta Mutation Damage Score 0.4961 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.3%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,991 (GRCm39) E92G probably benign Het
Abca13 C T 11: 9,416,429 (GRCm39) Q4064* probably null Het
Abca14 G A 7: 119,815,524 (GRCm39) M257I probably benign Het
Acsm2 T A 7: 119,174,855 (GRCm39) C207S probably damaging Het
Actr3 A G 1: 125,344,018 (GRCm39) I67T probably benign Het
Adcy7 T C 8: 89,046,835 (GRCm39) V606A probably benign Het
Ahnak2 G A 12: 112,751,570 (GRCm39) S54F probably damaging Het
Atg3 C T 16: 44,992,123 (GRCm39) probably benign Het
Atp8b1 T A 18: 64,697,597 (GRCm39) S416C probably damaging Het
C2cd5 A G 6: 142,987,072 (GRCm39) probably benign Het
Capn11 A T 17: 45,954,735 (GRCm39) V134E probably damaging Het
Ccnd3 A G 17: 47,909,033 (GRCm39) probably null Het
Chaf1b T A 16: 93,684,998 (GRCm39) V149E probably damaging Het
Col5a2 T A 1: 45,542,074 (GRCm39) M1L unknown Het
Copa T C 1: 171,931,694 (GRCm39) I315T probably benign Het
Cyp3a57 A G 5: 145,318,077 (GRCm39) M353V probably damaging Het
Dcaf6 T C 1: 165,160,942 (GRCm39) M828V probably damaging Het
Dock2 T A 11: 34,232,761 (GRCm39) K1080* probably null Het
Dock6 A G 9: 21,726,038 (GRCm39) V1424A probably benign Het
Foxa1 T C 12: 57,588,984 (GRCm39) D412G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Galnt9 T A 5: 110,736,196 (GRCm39) S171T probably damaging Het
Glt6d1 A G 2: 25,684,260 (GRCm39) Y249H probably damaging Het
Gm37240 A T 3: 84,434,998 (GRCm39) Y104N probably damaging Het
Gpx8 C T 13: 113,182,149 (GRCm39) E95K possibly damaging Het
Grm1 T C 10: 10,565,450 (GRCm39) T953A probably benign Het
Helz T C 11: 107,494,889 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,647 (GRCm39) Y108C probably damaging Het
Kcnj13 A T 1: 87,316,939 (GRCm39) L58Q probably damaging Het
Mfsd14b A T 13: 65,243,485 (GRCm39) V53D probably damaging Het
Mrps7 G C 11: 115,494,952 (GRCm39) probably benign Het
Mug1 G A 6: 121,856,259 (GRCm39) G1013D probably damaging Het
Or52h7 T A 7: 104,214,038 (GRCm39) Y203* probably null Het
Or6c8 A T 10: 128,915,484 (GRCm39) M116K probably damaging Het
Pax6 T C 2: 105,521,955 (GRCm39) I19T probably benign Het
Pde8b G A 13: 95,184,304 (GRCm39) R416C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pygl G A 12: 70,246,504 (GRCm39) R348W probably damaging Het
Ralgapa1 T A 12: 55,731,309 (GRCm39) D1874V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sncaip T C 18: 53,001,958 (GRCm39) S160P probably damaging Het
Sptbn4 A G 7: 27,133,719 (GRCm39) V79A probably damaging Het
Sptlc3 A T 2: 139,431,480 (GRCm39) Y334F possibly damaging Het
Supt16 A G 14: 52,409,916 (GRCm39) Y764H probably benign Het
Syne3 A T 12: 104,921,841 (GRCm39) V438E possibly damaging Het
Tagap1 T C 17: 7,224,210 (GRCm39) D162G probably damaging Het
Terb1 T C 8: 105,225,122 (GRCm39) probably benign Het
Themis3 C A 17: 66,866,949 (GRCm39) R97L probably benign Het
Tnk1 T A 11: 69,747,372 (GRCm39) E86D possibly damaging Het
Tnpo3 A G 6: 29,557,043 (GRCm39) L53P probably damaging Het
Trpc6 G A 9: 8,658,305 (GRCm39) R725K probably benign Het
Ttll11 T G 2: 35,685,391 (GRCm39) T566P probably damaging Het
Unc5c A T 3: 141,533,310 (GRCm39) T779S possibly damaging Het
Zfp42 A G 8: 43,748,638 (GRCm39) C288R possibly damaging Het
Zfp763 G A 17: 33,240,477 (GRCm39) T52I probably damaging 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
IGL03297:Ano6 APN 15 95,860,158 (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
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
Predicted Primers PCR Primer
(F):5'- GACTCCTCGCTCATGCTAAAGGAAC -3'
(R):5'- AGTGCTTCACACACGTCTGACAG -3'

Sequencing Primer
(F):5'- CCGTTGCTTTGAGACTGAAG -3'
(R):5'- TCGAGTTTTGGCCGCAC -3'
Posted On 2014-03-28