Incidental Mutation 'IGL02359:Ano3'
ID290427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano3
Ensembl Gene ENSMUSG00000074968
Gene Nameanoctamin 3
SynonymsTmem16c, B230324K02Rik
Accession Numbers

Genbank: NM_001081556, NM_001128103; MGI: 3613666

Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02359
Quality Score
Status
Chromosome2
Chromosomal Location110655201-110950923 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 110884943 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 50 (L50*)
Ref Sequence ENSEMBL: ENSMUSP00000097219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099623]
Predicted Effect probably null
Transcript: ENSMUST00000099623
AA Change: L50*
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: L50*

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111019
SMART Domains Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968

DomainStartEndE-ValueType
Pfam:Anoctamin 384 627 6.3e-60 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cep55 T A 19: 38,069,868 I303N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Ano3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ano3 APN 2 110771050 splice site probably benign
IGL01066:Ano3 APN 2 110661445 missense probably null 0.00
IGL01696:Ano3 APN 2 110667737 missense probably damaging 1.00
IGL01729:Ano3 APN 2 110781394 splice site probably null
IGL01785:Ano3 APN 2 110682715 missense probably damaging 1.00
IGL01786:Ano3 APN 2 110682715 missense probably damaging 1.00
IGL01992:Ano3 APN 2 110658219 missense probably damaging 1.00
IGL02098:Ano3 APN 2 110666441 nonsense probably null
IGL02333:Ano3 APN 2 110697199 splice site probably benign
IGL02346:Ano3 APN 2 110770926 splice site probably benign
IGL02352:Ano3 APN 2 110884943 nonsense probably null
IGL02544:Ano3 APN 2 110658249 missense possibly damaging 0.79
IGL02750:Ano3 APN 2 110665984 splice site probably benign
IGL02861:Ano3 APN 2 110738812 missense probably damaging 1.00
IGL02948:Ano3 APN 2 110697018 splice site probably benign
IGL03327:Ano3 APN 2 110697178 missense possibly damaging 0.62
3-1:Ano3 UTSW 2 110697124 missense probably damaging 1.00
IGL02988:Ano3 UTSW 2 110775010 missense probably damaging 1.00
IGL03147:Ano3 UTSW 2 110697418 missense probably damaging 1.00
R0349:Ano3 UTSW 2 110661487 missense probably damaging 1.00
R0426:Ano3 UTSW 2 110661174 missense probably damaging 1.00
R0523:Ano3 UTSW 2 110884855 missense probably benign 0.13
R0557:Ano3 UTSW 2 110862952 splice site probably null
R0611:Ano3 UTSW 2 110885001 missense possibly damaging 0.93
R0891:Ano3 UTSW 2 110697976 missense probably benign 0.03
R1459:Ano3 UTSW 2 110880829 missense probably benign 0.00
R1460:Ano3 UTSW 2 110682758 missense probably damaging 0.97
R1773:Ano3 UTSW 2 110761455 missense probably damaging 1.00
R1874:Ano3 UTSW 2 110884872 missense probably benign 0.00
R1919:Ano3 UTSW 2 110885007 missense probably benign
R2185:Ano3 UTSW 2 110775045 missense probably benign 0.01
R2280:Ano3 UTSW 2 110682759 missense probably benign 0.22
R2281:Ano3 UTSW 2 110682759 missense probably benign 0.22
R2348:Ano3 UTSW 2 110783743 missense possibly damaging 0.82
R2425:Ano3 UTSW 2 110862843 missense probably benign
R2697:Ano3 UTSW 2 110794960 missense possibly damaging 0.79
R3888:Ano3 UTSW 2 110885000 missense probably damaging 0.99
R3923:Ano3 UTSW 2 110770959 missense probably damaging 1.00
R4352:Ano3 UTSW 2 110745894 missense possibly damaging 0.74
R4447:Ano3 UTSW 2 110761578 unclassified probably null
R4790:Ano3 UTSW 2 110884919 missense probably benign
R4832:Ano3 UTSW 2 110667722 missense probably damaging 1.00
R4916:Ano3 UTSW 2 110771020 missense possibly damaging 0.74
R5113:Ano3 UTSW 2 110661480 missense possibly damaging 0.61
R5486:Ano3 UTSW 2 110745870 missense probably damaging 1.00
R5498:Ano3 UTSW 2 110697103 missense possibly damaging 0.68
R5589:Ano3 UTSW 2 110884995 missense probably damaging 0.99
R5627:Ano3 UTSW 2 110756953 missense possibly damaging 0.61
R5741:Ano3 UTSW 2 110658273 missense probably benign 0.11
R5767:Ano3 UTSW 2 110661271 missense probably damaging 1.00
R5883:Ano3 UTSW 2 110880864 missense probably null 0.15
R5899:Ano3 UTSW 2 110862887 missense probably benign 0.39
R5916:Ano3 UTSW 2 110681836 missense probably benign 0.29
R6158:Ano3 UTSW 2 110665875 missense probably damaging 1.00
R6315:Ano3 UTSW 2 110697039 missense probably damaging 1.00
R6401:Ano3 UTSW 2 110775114 missense probably benign 0.01
R6481:Ano3 UTSW 2 110795027 missense probably benign 0.16
R6482:Ano3 UTSW 2 110697055 missense probably damaging 1.00
R6587:Ano3 UTSW 2 110797904 intron probably null
R6811:Ano3 UTSW 2 110880867 missense probably benign 0.03
R7048:Ano3 UTSW 2 110682771 nonsense probably null
R7145:Ano3 UTSW 2 110862860 missense probably benign 0.31
R7207:Ano3 UTSW 2 110781423 missense probably damaging 0.96
R7215:Ano3 UTSW 2 110665932 missense probably damaging 1.00
R7366:Ano3 UTSW 2 110757067 missense probably damaging 1.00
R7371:Ano3 UTSW 2 110884849 critical splice donor site probably null
R7568:Ano3 UTSW 2 110950293 start gained probably benign
R7636:Ano3 UTSW 2 110682703 nonsense probably null
R7888:Ano3 UTSW 2 110666428 missense probably damaging 1.00
R7971:Ano3 UTSW 2 110666428 missense probably damaging 1.00
R8024:Ano3 UTSW 2 110667783 missense probably damaging 0.99
R8074:Ano3 UTSW 2 110950232 start gained probably benign
RF012:Ano3 UTSW 2 110697523 missense possibly damaging 0.83
RF013:Ano3 UTSW 2 110697036 missense probably benign 0.30
X0058:Ano3 UTSW 2 110697418 missense probably damaging 1.00
Z1088:Ano3 UTSW 2 110745847 missense probably damaging 1.00
Posted On2015-04-16