Incidental Mutation 'R9609:Ano8'
ID 724093
Institutional Source Beutler Lab
Gene Symbol Ano8
Ensembl Gene ENSMUSG00000034863
Gene Name anoctamin 8
Synonyms Tmem16h
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9609 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 71928663-71938607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71933726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 522 (D522V)
Ref Sequence ENSEMBL: ENSMUSP00000091157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093450] [ENSMUST00000124745] [ENSMUST00000138892] [ENSMUST00000147642] [ENSMUST00000213382]
AlphaFold Q6PB70
Predicted Effect unknown
Transcript: ENSMUST00000093450
AA Change: D522V
SMART Domains Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: D522V

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 probably benign
Transcript: ENSMUST00000138892
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 unknown
Transcript: ENSMUST00000213382
AA Change: D566V
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,208,549 (GRCm39) S241P probably damaging Het
Adam23 A T 1: 63,576,102 (GRCm39) M295L probably benign Het
Asgr2 T C 11: 69,988,667 (GRCm39) L120P probably damaging Het
Atp5mc2 A G 15: 102,573,580 (GRCm39) F79L probably damaging Het
Baiap2 C T 11: 119,847,958 (GRCm39) R29C probably damaging Het
Bicdl2 A G 17: 23,884,513 (GRCm39) E145G Het
Cad T C 5: 31,228,018 (GRCm39) probably null Het
Dhrs7b A G 11: 60,735,121 (GRCm39) R51G possibly damaging Het
Dnah3 A T 7: 119,670,236 (GRCm39) Y694N probably damaging Het
Dnaja4 G A 9: 54,616,644 (GRCm39) G216S probably null Het
Dync1h1 T C 12: 110,607,362 (GRCm39) V2651A probably benign Het
Fbxw28 T C 9: 109,167,515 (GRCm39) T81A probably benign Het
Fga A T 3: 82,940,064 (GRCm39) I573F probably damaging Het
Fgd6 T A 10: 93,879,674 (GRCm39) I176N probably damaging Het
Fhl5 A T 4: 25,214,653 (GRCm39) C41* probably null Het
Fibcd1 A G 2: 31,728,653 (GRCm39) V68A probably benign Het
Fign T C 2: 63,810,286 (GRCm39) D328G probably benign Het
Gtpbp10 A C 5: 5,607,396 (GRCm39) F15C probably damaging Het
Hmcn1 A T 1: 150,555,346 (GRCm39) V2475D probably damaging Het
Iglv3 A G 16: 19,060,221 (GRCm39) S36P probably damaging Het
Igsf10 G T 3: 59,226,869 (GRCm39) T2268N probably damaging Het
Krt75 A G 15: 101,474,677 (GRCm39) I473T probably benign Het
Lcn3 A G 2: 25,657,596 (GRCm39) E162G possibly damaging Het
Lnpk A G 2: 74,401,298 (GRCm39) V17A probably damaging Het
Malrd1 A G 2: 15,700,081 (GRCm39) S643G unknown Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mlip T A 9: 77,045,797 (GRCm39) L894F possibly damaging Het
Muc4 A T 16: 32,577,234 (GRCm39) T175S Het
Nkpd1 A C 7: 19,257,462 (GRCm39) I414L possibly damaging Het
Nrxn2 C A 19: 6,540,203 (GRCm39) N834K probably damaging Het
Oacyl A G 18: 65,843,599 (GRCm39) T99A probably benign Het
Patj T G 4: 98,576,473 (GRCm39) F570L probably benign Het
Piwil4 T C 9: 14,614,443 (GRCm39) T107A Het
Ppp1r12b G A 1: 134,824,084 (GRCm39) Q180* probably null Het
Prpf4b A G 13: 35,068,032 (GRCm39) D287G unknown Het
Rab17 T C 1: 90,891,907 (GRCm39) Y39C probably damaging Het
Rbsn T A 6: 92,179,565 (GRCm39) I125F probably damaging Het
Rnf207 C A 4: 152,402,222 (GRCm39) G74C probably damaging Het
Rrs1 T C 1: 9,616,518 (GRCm39) L257P probably benign Het
Ryr2 T C 13: 11,683,848 (GRCm39) E3072G probably damaging Het
Scn8a A C 15: 100,834,407 (GRCm39) I68L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a7 T A 4: 14,532,636 (GRCm39) I413F probably damaging Het
Slc4a11 T A 2: 130,530,035 (GRCm39) T248S possibly damaging Het
Spen A G 4: 141,215,419 (GRCm39) I471T unknown Het
Tbpl2 C T 2: 23,977,197 (GRCm39) D274N probably damaging Het
Timm23 A G 14: 31,902,543 (GRCm39) M200T probably benign Het
Tlr3 T C 8: 45,850,117 (GRCm39) I851V probably benign Het
Tnfrsf18 T A 4: 156,113,208 (GRCm39) V298E possibly damaging Het
Trav6-3 A G 14: 53,667,618 (GRCm39) N41S possibly damaging Het
Trim17 C A 11: 58,855,964 (GRCm39) A7D probably damaging Het
Ttbk1 T C 17: 46,758,148 (GRCm39) T829A probably damaging Het
Ugt3a1 A C 15: 9,361,905 (GRCm39) E227A probably damaging Het
Vmn1r218 C T 13: 23,320,839 (GRCm39) T62I probably benign Het
Vmn2r100 T C 17: 19,743,732 (GRCm39) L465P probably damaging Het
Vps13c A T 9: 67,841,831 (GRCm39) Q1951L probably damaging Het
Wdcp A G 12: 4,900,258 (GRCm39) D38G probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zc3h4 T A 7: 16,150,751 (GRCm39) V23D unknown Het
Zkscan8 C A 13: 21,709,434 (GRCm39) V155F possibly damaging 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
R1028:Ano8 UTSW 8 71,933,615 (GRCm39) small deletion probably benign
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
X0026:Ano8 UTSW 8 71,931,801 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGCAAAGCTGACCTTCTTGAG -3'
(R):5'- TTCGTTTGCAGATGCTGGCC -3'

Sequencing Primer
(F):5'- CGCAGTCTAGGAGGCTTCC -3'
(R):5'- AGATGCTGGCCACCCTACTC -3'
Posted On 2022-09-12