Incidental Mutation 'IGL03216:Ano10'
ID413471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano10
Ensembl Gene ENSMUSG00000037949
Gene Nameanoctamin 10
SynonymsTmem16k
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL03216
Quality Score
Status
Chromosome9
Chromosomal Location122175874-122294423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122257061 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 491 (Y491N)
Ref Sequence ENSEMBL: ENSMUSP00000150161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042546] [ENSMUST00000214283] [ENSMUST00000214409] [ENSMUST00000214507] [ENSMUST00000216081] [ENSMUST00000216670]
Predicted Effect probably damaging
Transcript: ENSMUST00000042546
AA Change: Y491N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: Y491N

DomainStartEndE-ValueType
Pfam:Anoctamin 200 628 2.2e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214283
AA Change: Y491N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214409
AA Change: Y433N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214507
AA Change: Y299N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216081
Predicted Effect probably damaging
Transcript: ENSMUST00000216670
AA Change: Y491N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to inhibit anion conductance. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit calcium-activated chloride ion secretion in the jejunum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T C 16: 38,828,690 D19G possibly damaging Het
Cacna2d1 T C 5: 16,353,842 F709L probably damaging Het
Cadps A G 14: 12,439,944 I1196T probably damaging Het
Cage1 T C 13: 38,006,177 probably benign Het
Cep350 A T 1: 155,860,627 C2888S probably benign Het
Cfap52 T C 11: 67,954,106 T46A possibly damaging Het
Cyp2d26 T C 15: 82,793,261 M76V probably benign Het
Fam208b C T 13: 3,574,553 C1799Y probably damaging Het
Fermt3 A T 19: 6,999,380 D653E probably benign Het
Foxj3 A G 4: 119,609,983 probably benign Het
Gm21985 T A 2: 112,266,936 S39T probably damaging Het
Herc1 A T 9: 66,478,946 D3727V probably benign Het
Ifi208 A T 1: 173,678,941 T97S possibly damaging Het
Iqgap1 T C 7: 80,743,088 E709G probably benign Het
Itgb5 T A 16: 33,902,838 H361Q probably benign Het
Mr1 T A 1: 155,129,289 N335I possibly damaging Het
Nadsyn1 A T 7: 143,797,845 F684I probably damaging Het
Nf1 A T 11: 79,564,895 I2544F probably benign Het
Olfr786 A G 10: 129,436,937 T42A probably damaging Het
Pnp2 T G 14: 50,963,197 S107A probably benign Het
Pomt1 A G 2: 32,242,943 I184V probably damaging Het
Slc6a19 T G 13: 73,686,181 M301L probably benign Het
Smarca5 T C 8: 80,719,658 Y471C probably damaging Het
Syne2 A T 12: 75,942,961 probably benign Het
Trmt6 T C 2: 132,808,698 N330S probably null Het
Tsc22d1 T C 14: 76,418,637 V770A probably benign Het
Ttll6 A G 11: 96,152,014 D462G probably benign Het
Ttn T C 2: 76,945,049 H1883R probably damaging Het
Ubxn10 C T 4: 138,720,739 V209M probably damaging Het
Urb1 T C 16: 90,788,114 T540A probably benign Het
Vmn2r17 A T 5: 109,452,890 R685W probably damaging Het
Vps4a C T 8: 107,036,703 R30C probably damaging Het
Xpo6 A G 7: 126,104,813 V1055A probably damaging Het
Zfp445 C T 9: 122,851,978 C966Y probably damaging Het
Other mutations in Ano10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Ano10 APN 9 122261356 missense possibly damaging 0.96
IGL00886:Ano10 APN 9 122271324 missense probably benign 0.01
IGL00932:Ano10 APN 9 122251231 nonsense probably null
IGL01613:Ano10 APN 9 122259540 missense possibly damaging 0.75
IGL02109:Ano10 APN 9 122261342 missense probably damaging 1.00
IGL02397:Ano10 APN 9 122261392 missense probably damaging 1.00
IGL02512:Ano10 APN 9 122272474 missense possibly damaging 0.50
arna UTSW 9 122259564 missense possibly damaging 0.77
R0624:Ano10 UTSW 9 122259595 splice site probably benign
R1669:Ano10 UTSW 9 122257183 missense possibly damaging 0.94
R1801:Ano10 UTSW 9 122253030 missense probably damaging 1.00
R2511:Ano10 UTSW 9 122258945 missense probably damaging 0.99
R3836:Ano10 UTSW 9 122263763 missense possibly damaging 0.58
R4027:Ano10 UTSW 9 122252928 splice site probably benign
R4151:Ano10 UTSW 9 122261535 nonsense probably null
R4590:Ano10 UTSW 9 122257165 missense probably benign 0.22
R4651:Ano10 UTSW 9 122261115 nonsense probably null
R4652:Ano10 UTSW 9 122261115 nonsense probably null
R4676:Ano10 UTSW 9 122263787 missense probably damaging 0.98
R5026:Ano10 UTSW 9 122272559 nonsense probably null
R5281:Ano10 UTSW 9 122261486 missense probably damaging 1.00
R5401:Ano10 UTSW 9 122261290 missense probably damaging 1.00
R6269:Ano10 UTSW 9 122261242 missense probably damaging 0.99
R6449:Ano10 UTSW 9 122201688 intron probably benign
R6702:Ano10 UTSW 9 122259564 missense possibly damaging 0.77
R7010:Ano10 UTSW 9 122253124 missense probably damaging 1.00
R7384:Ano10 UTSW 9 122176343 missense unknown
R7584:Ano10 UTSW 9 122275531 missense probably benign
Posted On2016-08-02