Incidental Mutation 'IGL01380:Ano8'
ID78834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano8
Ensembl Gene ENSMUSG00000034863
Gene Nameanoctamin 8
SynonymsTmem16h
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01380
Quality Score
Status
Chromosome8
Chromosomal Location71476019-71485963 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 71480809 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093450] [ENSMUST00000124745] [ENSMUST00000138892] [ENSMUST00000147642] [ENSMUST00000213382]
Predicted Effect unknown
Transcript: ENSMUST00000093450
AA Change: V613A
SMART Domains Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: V613A

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
Pfam:Anoctamin 237 874 3e-149 PFAM
coiled coil region 881 919 N/A INTRINSIC
low complexity region 948 964 N/A INTRINSIC
low complexity region 974 988 N/A INTRINSIC
low complexity region 1042 1056 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124745
SMART Domains Protein: ENSMUSP00000121042
Gene: ENSMUSG00000074247

DomainStartEndE-ValueType
Pfam:DDA1 3 65 6e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135052
Predicted Effect probably benign
Transcript: ENSMUST00000138892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146677
Predicted Effect probably benign
Transcript: ENSMUST00000147642
SMART Domains Protein: ENSMUSP00000123665
Gene: ENSMUSG00000074247

DomainStartEndE-ValueType
Pfam:DDA1 3 52 1.2e-23 PFAM
low complexity region 84 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213016
Predicted Effect unknown
Transcript: ENSMUST00000213382
AA Change: V657A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,022 V352L possibly damaging Het
Ankrd44 A T 1: 54,727,565 M488K probably benign Het
Atp2a1 T A 7: 126,448,770 M623L possibly damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Btla A C 16: 45,250,353 D225A probably benign Het
C030048H21Rik G A 2: 26,256,647 Q1218* probably null Het
C130079G13Rik A G 3: 59,932,632 T42A probably benign Het
Cacna1a A G 8: 84,559,117 Y750C probably damaging Het
Ccdc15 A T 9: 37,276,557 probably benign Het
Ccdc18 T A 5: 108,180,887 I724N probably damaging Het
Cluh T A 11: 74,665,946 F937L probably benign Het
Clybl G T 14: 122,379,349 A259S probably benign Het
Cyp4f39 T G 17: 32,481,858 I167S probably damaging Het
Dchs1 T A 7: 105,762,211 D1566V probably damaging Het
Dnah3 C T 7: 119,926,564 A3867T probably damaging Het
Dtwd1 T A 2: 126,159,927 L189Q probably benign Het
Dusp10 T C 1: 184,069,014 I326T possibly damaging Het
Eaf1 T A 14: 31,497,810 probably benign Het
Eif3c C T 7: 126,564,413 probably benign Het
Fam169a C T 13: 97,091,951 T44M probably damaging Het
Fam184a T C 10: 53,694,686 probably benign Het
Fam25c C T 14: 34,353,698 A46T probably null Het
Gckr A G 5: 31,299,633 probably benign Het
Gfra2 G T 14: 70,967,146 probably benign Het
Gm8237 A T 14: 5,863,703 probably null Het
H2-Eb2 G T 17: 34,335,809 L228F probably benign Het
Igf2r T C 17: 12,695,374 N1736S probably benign Het
Izumo1 T G 7: 45,627,095 S361A probably benign Het
Klri1 T C 6: 129,698,798 I170V probably benign Het
L3mbtl2 C T 15: 81,671,125 A193V possibly damaging Het
Lats1 T A 10: 7,691,780 M105K possibly damaging Het
Lrpprc T C 17: 84,722,730 D1080G probably benign Het
Lrrc74a A T 12: 86,761,722 M425L possibly damaging Het
Mfsd13a G T 19: 46,367,908 D151Y probably damaging Het
Mst1 G A 9: 108,084,588 E640K probably damaging Het
Napsa T C 7: 44,586,674 V379A probably damaging Het
Olfr1 A T 11: 73,395,191 M277K probably damaging Het
Olfr371 A T 8: 85,231,329 Y278F possibly damaging Het
Olfr371 C A 8: 85,231,146 S217Y probably damaging Het
Olfr544 C T 7: 102,484,385 C245Y probably damaging Het
Otop3 T C 11: 115,346,411 V567A probably damaging Het
Oxsr1 A T 9: 119,260,101 probably benign Het
Pak2 A T 16: 32,041,544 V167E probably benign Het
Pcdhb16 A G 18: 37,479,445 H486R probably benign Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rbm6 T C 9: 107,788,349 D616G probably damaging Het
Sf3b1 T C 1: 54,987,949 Y1249C probably damaging Het
Sipa1l3 T C 7: 29,331,372 H534R possibly damaging Het
Slco1c1 T C 6: 141,540,051 Y136H probably damaging Het
Smarca4 A G 9: 21,679,073 M1333V probably benign Het
Smc4 A G 3: 69,025,828 D54G probably damaging Het
Spag5 T A 11: 78,304,617 V250E possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Suv39h2 T A 2: 3,464,259 probably benign Het
Taar8b T A 10: 24,092,107 H63L probably damaging Het
Tex2 G A 11: 106,544,315 Q264* probably null Het
Thnsl2 A C 6: 71,138,756 S156A probably benign Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Usp25 T C 16: 77,093,678 L758P probably benign Het
Zfyve1 G A 12: 83,552,507 R144C probably damaging Het
Zpld1 A G 16: 55,251,770 V42A probably damaging Het
Other mutations in Ano8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Ano8 APN 8 71484258 splice site probably benign
IGL00501:Ano8 APN 8 71479149 critical splice donor site probably null
IGL02138:Ano8 APN 8 71484842 missense probably damaging 0.99
IGL02516:Ano8 APN 8 71485077 missense probably damaging 1.00
IGL02675:Ano8 APN 8 71483540 missense probably damaging 0.99
IGL02995:Ano8 APN 8 71483117 missense possibly damaging 0.72
H8786:Ano8 UTSW 8 71478744 unclassified probably benign
R0265:Ano8 UTSW 8 71480524 unclassified probably benign
R0282:Ano8 UTSW 8 71480614 unclassified probably benign
R0518:Ano8 UTSW 8 71479258 missense probably benign 0.39
R0521:Ano8 UTSW 8 71479258 missense probably benign 0.39
R1028:Ano8 UTSW 8 71480971 small deletion probably benign
R1147:Ano8 UTSW 8 71482017 missense probably damaging 1.00
R1147:Ano8 UTSW 8 71482017 missense probably damaging 1.00
R1748:Ano8 UTSW 8 71478958 unclassified probably benign
R1852:Ano8 UTSW 8 71483487 missense probably damaging 0.99
R4161:Ano8 UTSW 8 71482637 missense probably damaging 1.00
R4192:Ano8 UTSW 8 71483292 missense probably damaging 1.00
R4274:Ano8 UTSW 8 71478741 unclassified probably benign
R4834:Ano8 UTSW 8 71484295 missense probably damaging 1.00
R4961:Ano8 UTSW 8 71482996 missense probably damaging 1.00
R5252:Ano8 UTSW 8 71482617 missense probably damaging 1.00
R5553:Ano8 UTSW 8 71484997 splice site probably null
R5598:Ano8 UTSW 8 71482577 missense probably damaging 1.00
R5695:Ano8 UTSW 8 71483243 missense probably damaging 0.98
R5994:Ano8 UTSW 8 71484834 missense probably damaging 1.00
R6019:Ano8 UTSW 8 71482380 missense probably damaging 1.00
R6153:Ano8 UTSW 8 71480797 unclassified probably benign
R6405:Ano8 UTSW 8 71483030 missense probably damaging 1.00
R6516:Ano8 UTSW 8 71481780 unclassified probably null
R6539:Ano8 UTSW 8 71484483 missense probably damaging 1.00
R7194:Ano8 UTSW 8 71482363 missense possibly damaging 0.66
R7204:Ano8 UTSW 8 71479025 missense probably benign 0.39
R7340:Ano8 UTSW 8 71483011 missense probably damaging 0.99
R7365:Ano8 UTSW 8 71485110 missense probably damaging 1.00
R7417:Ano8 UTSW 8 71480833 missense unknown
R7486:Ano8 UTSW 8 71484998 critical splice donor site probably null
R7644:Ano8 UTSW 8 71484830 missense probably damaging 0.98
R7709:Ano8 UTSW 8 71482289 missense probably damaging 1.00
R7719:Ano8 UTSW 8 71483140 missense possibly damaging 0.82
R8040:Ano8 UTSW 8 71482168 missense probably benign 0.26
R8219:Ano8 UTSW 8 71480713 missense unknown
X0026:Ano8 UTSW 8 71479157 unclassified probably benign
Posted On2013-11-05