Incidental Mutation 'IGL01613:Ano10'
ID 92253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano10
Ensembl Gene ENSMUSG00000037949
Gene Name anoctamin 10
Synonyms Tmem16k
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01613
Quality Score
Status
Chromosome 9
Chromosomal Location 122004940-122123489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122088606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 347 (L347M)
Ref Sequence ENSEMBL: ENSMUSP00000151189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042546] [ENSMUST00000214283] [ENSMUST00000214409] [ENSMUST00000214507] [ENSMUST00000216081] [ENSMUST00000216670]
AlphaFold Q8BH79
Predicted Effect possibly damaging
Transcript: ENSMUST00000042546
AA Change: L405M

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: L405M

DomainStartEndE-ValueType
Pfam:Anoctamin 200 628 2.2e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214283
AA Change: L405M

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214409
AA Change: L347M

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000214507
AA Change: L213M

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216081
Predicted Effect possibly damaging
Transcript: ENSMUST00000216670
AA Change: L405M

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Esco2 T G 14: 66,064,044 (GRCm39) H380P possibly damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Ano10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Ano10 APN 9 122,090,422 (GRCm39) missense possibly damaging 0.96
IGL00886:Ano10 APN 9 122,100,390 (GRCm39) missense probably benign 0.01
IGL00932:Ano10 APN 9 122,080,297 (GRCm39) nonsense probably null
IGL02109:Ano10 APN 9 122,090,408 (GRCm39) missense probably damaging 1.00
IGL02397:Ano10 APN 9 122,090,458 (GRCm39) missense probably damaging 1.00
IGL02512:Ano10 APN 9 122,101,540 (GRCm39) missense possibly damaging 0.50
IGL03216:Ano10 APN 9 122,086,127 (GRCm39) missense probably damaging 1.00
arna UTSW 9 122,088,630 (GRCm39) missense possibly damaging 0.77
R0624:Ano10 UTSW 9 122,088,661 (GRCm39) splice site probably benign
R1669:Ano10 UTSW 9 122,086,249 (GRCm39) missense possibly damaging 0.94
R1801:Ano10 UTSW 9 122,082,096 (GRCm39) missense probably damaging 1.00
R2511:Ano10 UTSW 9 122,088,011 (GRCm39) missense probably damaging 0.99
R3836:Ano10 UTSW 9 122,092,829 (GRCm39) missense possibly damaging 0.58
R4027:Ano10 UTSW 9 122,081,994 (GRCm39) splice site probably benign
R4151:Ano10 UTSW 9 122,090,601 (GRCm39) nonsense probably null
R4590:Ano10 UTSW 9 122,086,231 (GRCm39) missense probably benign 0.22
R4651:Ano10 UTSW 9 122,090,181 (GRCm39) nonsense probably null
R4652:Ano10 UTSW 9 122,090,181 (GRCm39) nonsense probably null
R4676:Ano10 UTSW 9 122,092,853 (GRCm39) missense probably damaging 0.98
R5026:Ano10 UTSW 9 122,101,625 (GRCm39) nonsense probably null
R5281:Ano10 UTSW 9 122,090,552 (GRCm39) missense probably damaging 1.00
R5401:Ano10 UTSW 9 122,090,356 (GRCm39) missense probably damaging 1.00
R6269:Ano10 UTSW 9 122,090,308 (GRCm39) missense probably damaging 0.99
R6449:Ano10 UTSW 9 122,030,754 (GRCm39) intron probably benign
R6702:Ano10 UTSW 9 122,088,630 (GRCm39) missense possibly damaging 0.77
R7010:Ano10 UTSW 9 122,082,190 (GRCm39) missense probably damaging 1.00
R7384:Ano10 UTSW 9 122,005,409 (GRCm39) missense unknown
R7584:Ano10 UTSW 9 122,104,597 (GRCm39) missense probably benign
R8849:Ano10 UTSW 9 122,090,510 (GRCm39) missense probably benign 0.00
R8980:Ano10 UTSW 9 122,090,558 (GRCm39) missense probably benign 0.00
R9328:Ano10 UTSW 9 122,090,168 (GRCm39) missense possibly damaging 0.66
R9653:Ano10 UTSW 9 122,080,221 (GRCm39) missense possibly damaging 0.96
Posted On 2013-12-09