Incidental Mutation 'R5553:Ano8'
ID 435224
Institutional Source Beutler Lab
Gene Symbol Ano8
Ensembl Gene ENSMUSG00000034863
Gene Name anoctamin 8
Synonyms Tmem16h
MMRRC Submission 043110-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5553 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 71928663-71938607 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 71937641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007754] [ENSMUST00000093450] [ENSMUST00000095259] [ENSMUST00000127741] [ENSMUST00000213382] [ENSMUST00000168847] [ENSMUST00000150969]
AlphaFold Q6PB70
Predicted Effect probably benign
Transcript: ENSMUST00000007754
SMART Domains Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 1.8e-36 PFAM
Pfam:FeoB_N 250 390 3.9e-6 PFAM
Pfam:MMR_HSR1 251 375 1.6e-18 PFAM
Pfam:GTPase_Cys_C 421 489 9.9e-16 PFAM
Predicted Effect probably null
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: ENSMUST00000095259
SMART Domains Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 4.1e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124349
Predicted Effect probably benign
Transcript: ENSMUST00000127741
SMART Domains Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 2.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212768
Predicted Effect probably null
Transcript: ENSMUST00000213382
Predicted Effect probably benign
Transcript: ENSMUST00000168847
SMART Domains Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 153 3e-35 PFAM
Pfam:MnmE_helical 156 490 2e-48 PFAM
Pfam:FeoB_N 251 390 1.5e-7 PFAM
Pfam:MMR_HSR1 252 376 1.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150969
SMART Domains Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TrmE_N 35 152 1.8e-36 PFAM
Pfam:FeoB_N 250 390 3.9e-6 PFAM
Pfam:MMR_HSR1 251 375 1.6e-18 PFAM
Pfam:GTPase_Cys_C 421 489 9.9e-16 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,792,690 (GRCm39) I86F probably damaging Het
Abca13 C T 11: 9,278,158 (GRCm39) L3113F probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arid1b A T 17: 5,364,152 (GRCm39) S1041C probably damaging Het
Bsn T A 9: 107,987,620 (GRCm39) probably benign Het
Cbr3 A G 16: 93,480,451 (GRCm39) E80G possibly damaging Het
Chd1 A G 17: 17,605,875 (GRCm39) E271G probably benign Het
Dock3 T A 9: 106,868,309 (GRCm39) K658N possibly damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dppa1 T A 11: 46,503,861 (GRCm39) probably null Het
Fen1 T C 19: 10,177,787 (GRCm39) N219S probably benign Het
Fsip2 A G 2: 82,793,090 (GRCm39) T416A probably benign Het
Gm14393 A T 2: 174,903,639 (GRCm39) C89* probably null Het
Grin2c C T 11: 115,143,551 (GRCm39) M736I probably null Het
Heatr5b A T 17: 79,060,780 (GRCm39) probably null Het
Hspbap1 G T 16: 35,621,967 (GRCm39) W104L probably damaging Het
Igfn1 C T 1: 135,895,622 (GRCm39) G1648E probably damaging Het
Irf4 A G 13: 30,935,811 (GRCm39) Y122C probably damaging Het
Kremen2 A G 17: 23,960,776 (GRCm39) probably benign Het
Niban1 C T 1: 151,592,986 (GRCm39) T557M probably damaging Het
Nubpl T A 12: 52,228,082 (GRCm39) L169M possibly damaging Het
Nwd1 T C 8: 73,431,604 (GRCm39) S1200P possibly damaging Het
Or1j20 A G 2: 36,760,477 (GRCm39) I300V probably benign Het
Or5p61 A T 7: 107,758,478 (GRCm39) S201T probably benign Het
Parp14 G T 16: 35,677,306 (GRCm39) H887Q probably benign Het
Paxip1 G A 5: 27,980,637 (GRCm39) probably benign Het
Piwil1 T C 5: 128,822,565 (GRCm39) M392T probably benign Het
Plekhm3 T C 1: 64,961,045 (GRCm39) S404G possibly damaging Het
Prelid3a T C 18: 67,610,093 (GRCm39) L141P probably damaging Het
Ptprb T A 10: 116,186,090 (GRCm39) V1715E probably damaging Het
Rc3h2 G A 2: 37,288,323 (GRCm39) R420* probably null Het
Selenon C A 4: 134,268,228 (GRCm39) R435L probably damaging Het
Slc29a4 T C 5: 142,705,791 (GRCm39) L425P probably damaging Het
Slc30a9 T A 5: 67,502,947 (GRCm39) probably null Het
Slc9a5 T C 8: 106,083,672 (GRCm39) V404A probably damaging Het
Ssc5d A T 7: 4,939,289 (GRCm39) D575V probably damaging Het
Ttn A C 2: 76,721,940 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,725,110 (GRCm39) Q13R possibly damaging Het
Wfikkn1 T A 17: 26,097,468 (GRCm39) L285F possibly damaging Het
Zcchc17 A G 4: 130,247,927 (GRCm39) probably null 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
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'- CGTATGTGGCGGTGACAAAG -3'
(R):5'- CCCTTGAGAGCTCTAATGAGG -3'

Sequencing Primer
(F):5'- TGGCGAACTTGCACGATCAG -3'
(R):5'- TCTAATGAGGGCCGAGTCAGTC -3'
Posted On 2016-10-24