Incidental Mutation 'R8849:Ano10'
ID 674886
Institutional Source Beutler Lab
Gene Symbol Ano10
Ensembl Gene ENSMUSG00000037949
Gene Name anoctamin 10
Synonyms Tmem16k
MMRRC Submission 068672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8849 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 122004940-122123489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122090510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 268 (M268L)
Ref Sequence ENSEMBL: ENSMUSP00000045214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042546] [ENSMUST00000214283] [ENSMUST00000214409] [ENSMUST00000214507] [ENSMUST00000216081] [ENSMUST00000216670]
AlphaFold Q8BH79
Predicted Effect probably benign
Transcript: ENSMUST00000042546
AA Change: M268L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: M268L

DomainStartEndE-ValueType
Pfam:Anoctamin 200 628 2.2e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214283
AA Change: M268L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214409
AA Change: M210L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000214507
AA Change: M76L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216081
Predicted Effect probably benign
Transcript: ENSMUST00000216670
AA Change: M268L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik G A 16: 14,439,376 (GRCm39) probably null Het
Adgrv1 T C 13: 81,669,324 (GRCm39) T2411A probably benign Het
Aldh5a1 T A 13: 25,121,464 (GRCm39) T30S probably benign Het
Alg1 G A 16: 5,051,532 (GRCm39) A7T possibly damaging Het
Avil T C 10: 126,844,661 (GRCm39) V264A possibly damaging Het
Bicc1 T A 10: 70,782,694 (GRCm39) I558F probably benign Het
Bst1 A T 5: 43,977,927 (GRCm39) H92L possibly damaging Het
C1s2 T C 6: 124,602,754 (GRCm39) N486D probably benign Het
Carmil3 A T 14: 55,734,627 (GRCm39) H452L probably benign Het
Ccser1 T A 6: 61,288,537 (GRCm39) D233E probably benign Het
Ceacam18 G T 7: 43,294,967 (GRCm39) L342F probably benign Het
Cep95 T A 11: 106,707,630 (GRCm39) M691K Het
Cfap221 G A 1: 119,922,874 (GRCm39) P23S probably damaging Het
Ciao2b C T 8: 105,367,599 (GRCm39) probably null Het
Col20a1 T C 2: 180,640,432 (GRCm39) Y572H probably damaging Het
Cr2 C T 1: 194,839,547 (GRCm39) V627M probably damaging Het
Cul2 T A 18: 3,423,551 (GRCm39) H320Q probably benign Het
Ddx5 A T 11: 106,675,975 (GRCm39) V266E probably damaging Het
Dgkd T C 1: 87,846,365 (GRCm39) V336A probably damaging Het
Dnah6 T C 6: 73,121,156 (GRCm39) probably null Het
Dnhd1 C A 7: 105,370,723 (GRCm39) Q4668K probably benign Het
Dock7 C T 4: 98,904,986 (GRCm39) E630K Het
Dolk T C 2: 30,174,935 (GRCm39) E370G probably damaging Het
Ercc6 T A 14: 32,291,565 (GRCm39) L1003Q probably damaging Het
Foxc1 T C 13: 31,992,817 (GRCm39) S543P unknown Het
Gbp2b A C 3: 142,313,913 (GRCm39) M398L probably benign Het
Gigyf2 G T 1: 87,361,592 (GRCm39) R908L unknown Het
Gpr176 T A 2: 118,110,095 (GRCm39) E388V probably damaging Het
Gpx8 C T 13: 113,179,704 (GRCm39) G199E probably benign Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Ifi208 G A 1: 173,506,184 (GRCm39) probably benign Het
Itgad T A 7: 127,789,157 (GRCm39) probably benign Het
Kif20b C T 19: 34,915,716 (GRCm39) Q498* probably null Het
Lmo7 T C 14: 102,163,543 (GRCm39) Y1463H unknown Het
Mms19 A T 19: 41,952,767 (GRCm39) L114Q probably damaging Het
Mogs T C 6: 83,094,986 (GRCm39) V601A possibly damaging Het
Mybpc1 T A 10: 88,407,447 (GRCm39) M87L probably benign Het
Nhlrc2 T C 19: 56,580,184 (GRCm39) V439A possibly damaging Het
Npc1l1 T A 11: 6,179,038 (GRCm39) H124L probably damaging Het
Opn4 A G 14: 34,318,986 (GRCm39) W200R probably damaging Het
Or2b2b T C 13: 21,858,226 (GRCm39) E296G possibly damaging Het
Pax2 T C 19: 44,749,111 (GRCm39) probably benign Het
Phf20 G T 2: 156,118,440 (GRCm39) Q381H probably damaging Het
Pramel25 A G 4: 143,521,596 (GRCm39) N404S probably damaging Het
Pramel32 T A 4: 88,546,014 (GRCm39) T443S probably benign Het
Pramel34 A T 5: 93,784,197 (GRCm39) H422Q probably benign Het
Rb1 C T 14: 73,434,709 (GRCm39) R903Q probably damaging Het
Scamp4 T A 10: 80,445,266 (GRCm39) V37E probably damaging Het
Sema3e T C 5: 14,302,673 (GRCm39) W733R probably damaging Het
Sertm1 A G 3: 54,806,749 (GRCm39) V92A possibly damaging Het
Slc4a5 T C 6: 83,250,180 (GRCm39) F638L probably damaging Het
Tprn T C 2: 25,159,171 (GRCm39) S703P probably damaging Het
Tulp4 T A 17: 6,272,656 (GRCm39) M570K probably benign Het
Zfp433 T C 10: 81,556,875 (GRCm39) I459T probably benign Het
Zfp697 A G 3: 98,334,943 (GRCm39) E236G 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
IGL01613:Ano10 APN 9 122,088,606 (GRCm39) missense possibly damaging 0.75
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
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
Predicted Primers PCR Primer
(F):5'- CCCAGTCCTCCATGTCAAAG -3'
(R):5'- ACAATTGCTCTGTACTTCGGG -3'

Sequencing Primer
(F):5'- GTCCTCCATGTCAAAGTAGATCATC -3'
(R):5'- CGGGTTCCTGGAGTACTTCAC -3'
Posted On 2021-07-15