Incidental Mutation 'R1028:Ano8'
ID 95048
Institutional Source Beutler Lab
Gene Symbol Ano8
Ensembl Gene ENSMUSG00000034863
Gene Name anoctamin 8
Synonyms Tmem16h
MMRRC Submission 039130-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1028 (G1)
Quality Score 104
Status Not validated
Chromosome 8
Chromosomal Location 71928663-71938607 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) GCCTCCTCCTCCTCCTC to GCCTCCTCCTCCTC at 71933615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093450] [ENSMUST00000124745] [ENSMUST00000138892] [ENSMUST00000213382] [ENSMUST00000147642]
AlphaFold Q6PB70
Predicted Effect probably benign
Transcript: ENSMUST00000093450
SMART Domains Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863

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 noncoding transcript
Transcript: ENSMUST00000212768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213016
Predicted Effect probably benign
Transcript: ENSMUST00000213382
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
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.1%
  • 10x: 91.8%
  • 20x: 78.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak7 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 12: 105,676,448 (GRCm39) probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bpifb9a G C 2: 154,104,327 (GRCm39) E257Q possibly damaging Het
Cdh19 T C 1: 110,882,314 (GRCm39) I59M probably benign Het
Cmah A G 13: 24,619,645 (GRCm39) D171G probably damaging Het
Colec12 T C 18: 9,866,837 (GRCm39) S683P unknown Het
Dixdc1 C T 9: 50,614,546 (GRCm39) A168T probably benign Het
Dpp6 A G 5: 27,871,425 (GRCm39) D461G probably benign Het
Entpd3 A G 9: 120,387,427 (GRCm39) H208R probably benign Het
Fuz T C 7: 44,546,350 (GRCm39) I39T probably damaging Het
Gprin3 T C 6: 59,331,594 (GRCm39) N238D possibly damaging Het
Itpr3 G T 17: 27,310,343 (GRCm39) A403S probably benign Het
Mroh2a G A 1: 88,163,098 (GRCm39) R376H probably benign Het
Mtor G C 4: 148,623,287 (GRCm39) G2046R possibly damaging Het
Myh13 T C 11: 67,247,007 (GRCm39) S1243P possibly damaging Het
Net1 A T 13: 3,934,375 (GRCm39) C441S probably damaging Het
Nlrp4e T C 7: 23,021,169 (GRCm39) F552S probably damaging Het
Or2y15 G A 11: 49,351,047 (GRCm39) M180I probably benign Het
Or4k47 A T 2: 111,451,870 (GRCm39) L183Q probably damaging Het
Or9i16 C A 19: 13,865,159 (GRCm39) Q138H probably damaging Het
Ovch2 T C 7: 107,395,755 (GRCm39) I88V probably benign Het
Phf1 A G 17: 27,153,307 (GRCm39) T42A possibly damaging Het
Pkhd1 A G 1: 20,187,950 (GRCm39) Y3453H probably damaging Het
Rabgef1 T G 5: 130,241,703 (GRCm39) L369* probably null Het
Rufy1 A T 11: 50,305,425 (GRCm39) probably null Het
Sec16b T C 1: 157,388,487 (GRCm39) V618A probably benign Het
Sh3rf1 A G 8: 61,846,821 (GRCm39) R876G possibly damaging Het
Slc26a8 A G 17: 28,891,772 (GRCm39) Y126H probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zp1 G A 19: 10,896,275 (GRCm39) T150I probably benign Het
Other mutations in Ano8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Ano8 APN 8 71,936,902 (GRCm39) splice site probably benign
IGL00501:Ano8 APN 8 71,931,793 (GRCm39) critical splice donor site probably null
IGL01380:Ano8 APN 8 71,933,453 (GRCm39) unclassified probably benign
IGL02138:Ano8 APN 8 71,937,486 (GRCm39) missense probably damaging 0.99
IGL02516:Ano8 APN 8 71,937,721 (GRCm39) missense probably damaging 1.00
IGL02675:Ano8 APN 8 71,936,184 (GRCm39) missense probably damaging 0.99
IGL02995:Ano8 APN 8 71,935,761 (GRCm39) missense possibly damaging 0.72
H8786:Ano8 UTSW 8 71,931,388 (GRCm39) unclassified probably benign
R0265:Ano8 UTSW 8 71,933,168 (GRCm39) unclassified probably benign
R0282:Ano8 UTSW 8 71,933,258 (GRCm39) unclassified probably benign
R0518:Ano8 UTSW 8 71,931,902 (GRCm39) missense probably benign 0.39
R0521:Ano8 UTSW 8 71,931,902 (GRCm39) missense probably benign 0.39
R1147:Ano8 UTSW 8 71,934,661 (GRCm39) missense probably damaging 1.00
R1147:Ano8 UTSW 8 71,934,661 (GRCm39) missense probably damaging 1.00
R1748:Ano8 UTSW 8 71,931,602 (GRCm39) unclassified probably benign
R1852:Ano8 UTSW 8 71,936,131 (GRCm39) missense probably damaging 0.99
R4161:Ano8 UTSW 8 71,935,281 (GRCm39) missense probably damaging 1.00
R4192:Ano8 UTSW 8 71,935,936 (GRCm39) missense probably damaging 1.00
R4274:Ano8 UTSW 8 71,931,385 (GRCm39) unclassified probably benign
R4834:Ano8 UTSW 8 71,936,939 (GRCm39) missense probably damaging 1.00
R4961:Ano8 UTSW 8 71,935,640 (GRCm39) missense probably damaging 1.00
R5252:Ano8 UTSW 8 71,935,261 (GRCm39) missense probably damaging 1.00
R5553:Ano8 UTSW 8 71,937,641 (GRCm39) splice site probably null
R5598:Ano8 UTSW 8 71,935,221 (GRCm39) missense probably damaging 1.00
R5695:Ano8 UTSW 8 71,935,887 (GRCm39) missense probably damaging 0.98
R5994:Ano8 UTSW 8 71,937,478 (GRCm39) missense probably damaging 1.00
R6019:Ano8 UTSW 8 71,935,024 (GRCm39) missense probably damaging 1.00
R6153:Ano8 UTSW 8 71,933,441 (GRCm39) unclassified probably benign
R6405:Ano8 UTSW 8 71,935,674 (GRCm39) missense probably damaging 1.00
R6516:Ano8 UTSW 8 71,934,424 (GRCm39) splice site probably null
R6539:Ano8 UTSW 8 71,937,127 (GRCm39) missense probably damaging 1.00
R7194:Ano8 UTSW 8 71,935,007 (GRCm39) missense possibly damaging 0.66
R7204:Ano8 UTSW 8 71,931,669 (GRCm39) missense probably benign 0.39
R7340:Ano8 UTSW 8 71,935,655 (GRCm39) missense probably damaging 0.99
R7365:Ano8 UTSW 8 71,937,754 (GRCm39) missense probably damaging 1.00
R7417:Ano8 UTSW 8 71,933,477 (GRCm39) missense unknown
R7486:Ano8 UTSW 8 71,937,642 (GRCm39) critical splice donor site probably null
R7644:Ano8 UTSW 8 71,937,474 (GRCm39) missense probably damaging 0.98
R7709:Ano8 UTSW 8 71,934,933 (GRCm39) missense probably damaging 1.00
R7719:Ano8 UTSW 8 71,935,784 (GRCm39) missense possibly damaging 0.82
R8040:Ano8 UTSW 8 71,934,812 (GRCm39) missense probably benign 0.26
R8219:Ano8 UTSW 8 71,933,357 (GRCm39) missense unknown
R8355:Ano8 UTSW 8 71,933,210 (GRCm39) unclassified probably benign
R8401:Ano8 UTSW 8 71,936,011 (GRCm39) missense probably damaging 1.00
R8713:Ano8 UTSW 8 71,937,721 (GRCm39) missense probably damaging 1.00
R8755:Ano8 UTSW 8 71,935,724 (GRCm39) missense probably benign 0.11
R8871:Ano8 UTSW 8 71,931,944 (GRCm39) missense probably benign 0.39
R8903:Ano8 UTSW 8 71,934,834 (GRCm39) critical splice acceptor site probably null
R8990:Ano8 UTSW 8 71,929,201 (GRCm39) missense unknown
R9037:Ano8 UTSW 8 71,937,088 (GRCm39) missense probably damaging 1.00
R9379:Ano8 UTSW 8 71,936,178 (GRCm39) missense probably benign 0.28
R9432:Ano8 UTSW 8 71,933,561 (GRCm39) missense unknown
R9492:Ano8 UTSW 8 71,934,784 (GRCm39) missense possibly damaging 0.66
R9609:Ano8 UTSW 8 71,933,726 (GRCm39) missense unknown
X0026:Ano8 UTSW 8 71,931,801 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CGCTCAGCAAAGCTGACCTTCTTG -3'
(R):5'- GCGCAAAATGGGTCTTAGTGCAG -3'

Sequencing Primer
(F):5'- AAGCTGACCTTCTTGAGGCG -3'
(R):5'- CCGGGAAGGgtgtgtgtg -3'
Posted On 2014-01-05