Incidental Mutation 'IGL02397:Ano10'
ID291715
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: 0.153) question?
Stock #IGL02397
Quality Score
Status
Chromosome9
Chromosomal Location122175874-122294423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 122261392 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 285 (R285L)
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: R285L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: R285L

DomainStartEndE-ValueType
Pfam:Anoctamin 200 628 2.2e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214283
AA Change: R285L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214409
AA Change: R227L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214507
AA Change: R93L

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: R285L

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,646,875 N400S probably benign Het
Adam12 T A 7: 133,909,819 probably benign Het
Adam5 T C 8: 24,744,133 probably benign Het
Amn A T 12: 111,274,479 Y139F possibly damaging Het
Atad2b A G 12: 4,974,046 Y57C probably damaging Het
Brd8 T C 18: 34,604,873 K786R probably damaging Het
Cacna2d1 T C 5: 16,320,164 probably benign Het
Card9 C T 2: 26,352,329 D532N probably damaging Het
Cd22 T C 7: 30,877,625 T86A probably benign Het
Cebpz A T 17: 78,923,261 D842E possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 A G 1: 10,108,465 N713S possibly damaging Het
Eml5 T C 12: 98,790,674 T1899A probably benign Het
Fpgs T C 2: 32,685,789 T381A probably damaging Het
Frmd7 G A X: 50,895,898 T465I possibly damaging Het
Gm9837 A T 11: 53,470,160 probably benign Het
Hectd3 C A 4: 117,003,136 A816D possibly damaging Het
Itpripl2 A G 7: 118,490,296 W347R probably damaging Het
Kcnc3 A G 7: 44,595,794 T503A probably damaging Het
Mmadhc T C 2: 50,288,980 E142G possibly damaging Het
Nabp2 T A 10: 128,408,323 N138I possibly damaging Het
Obscn A G 11: 59,076,899 V2902A possibly damaging Het
Rbm8a2 T C 1: 175,978,638 D91G probably damaging Het
Samd3 A T 10: 26,233,576 Y134F possibly damaging Het
Slc11a2 A G 15: 100,401,649 F58S probably damaging Het
Slitrk4 T C X: 64,272,684 T126A probably damaging Het
Sspo C A 6: 48,461,638 P1547T probably benign Het
Tecta T C 9: 42,394,998 S45G probably damaging Het
Tenm3 T C 8: 48,236,694 T1937A possibly damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trmt1l T A 1: 151,439,531 I156N probably damaging Het
Vmn1r71 C T 7: 10,748,272 R163Q probably benign Het
Ythdf2 C T 4: 132,211,446 G13D probably damaging Het
Zbtb7c A T 18: 76,136,976 Y45F possibly damaging Het
Zfc3h1 G A 10: 115,407,985 M740I 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
IGL02512:Ano10 APN 9 122272474 missense possibly damaging 0.50
IGL03216:Ano10 APN 9 122257061 missense probably damaging 1.00
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 On2015-04-16