Incidental Mutation 'R6036:Ano4'
ID 479222
Institutional Source Beutler Lab
Gene Symbol Ano4
Ensembl Gene ENSMUSG00000035189
Gene Name anoctamin 4
Synonyms Tmem16d, A330096O15Rik
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6036 (G1)
Quality Score 218.009
Status Not validated
Chromosome 10
Chromosomal Location 88784856-89180624 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88818127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 588 (W588R)
Ref Sequence ENSEMBL: ENSMUSP00000138193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182341] [ENSMUST00000182462] [ENSMUST00000182613] [ENSMUST00000182790]
AlphaFold Q8C5H1
Predicted Effect possibly damaging
Transcript: ENSMUST00000182341
AA Change: W588R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: W588R

DomainStartEndE-ValueType
Pfam:Anoctamin 339 922 4.8e-162 PFAM
low complexity region 932 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182462
Predicted Effect unknown
Transcript: ENSMUST00000182598
AA Change: W103R
Predicted Effect possibly damaging
Transcript: ENSMUST00000182613
AA Change: W553R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: W553R

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182790
AA Change: W553R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: W553R

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Ano4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Ano4 APN 10 88,790,529 (GRCm39) missense probably damaging 1.00
IGL00916:Ano4 APN 10 88,833,960 (GRCm39) missense probably benign 0.01
IGL01010:Ano4 APN 10 88,796,462 (GRCm39) missense probably benign 0.14
IGL01015:Ano4 APN 10 88,870,961 (GRCm39) missense probably damaging 1.00
IGL01877:Ano4 APN 10 88,860,932 (GRCm39) nonsense probably null 0.00
IGL02310:Ano4 APN 10 88,859,740 (GRCm39) nonsense probably null
IGL02390:Ano4 APN 10 88,860,843 (GRCm39) missense possibly damaging 0.88
IGL02560:Ano4 APN 10 88,814,603 (GRCm39) nonsense probably null
Dwindle UTSW 10 88,819,640 (GRCm39) missense probably damaging 0.98
BB007:Ano4 UTSW 10 89,163,138 (GRCm39) missense possibly damaging 0.53
BB017:Ano4 UTSW 10 89,163,138 (GRCm39) missense possibly damaging 0.53
P0017:Ano4 UTSW 10 88,817,052 (GRCm39) nonsense probably null
PIT4486001:Ano4 UTSW 10 88,828,891 (GRCm39) missense probably damaging 1.00
R0126:Ano4 UTSW 10 88,788,154 (GRCm39) missense possibly damaging 0.73
R0380:Ano4 UTSW 10 88,814,675 (GRCm39) missense possibly damaging 0.82
R0508:Ano4 UTSW 10 88,816,839 (GRCm39) missense probably damaging 1.00
R0540:Ano4 UTSW 10 88,859,806 (GRCm39) missense probably benign 0.00
R1802:Ano4 UTSW 10 88,816,878 (GRCm39) missense probably damaging 1.00
R1864:Ano4 UTSW 10 88,807,253 (GRCm39) missense probably damaging 1.00
R1871:Ano4 UTSW 10 88,828,889 (GRCm39) missense probably damaging 1.00
R2829:Ano4 UTSW 10 88,948,801 (GRCm39) missense possibly damaging 0.58
R2880:Ano4 UTSW 10 88,948,661 (GRCm39) missense probably damaging 1.00
R3846:Ano4 UTSW 10 88,831,114 (GRCm39) missense possibly damaging 0.93
R3904:Ano4 UTSW 10 88,860,867 (GRCm39) missense probably damaging 1.00
R4006:Ano4 UTSW 10 88,924,125 (GRCm39) missense probably benign 0.18
R4429:Ano4 UTSW 10 88,828,804 (GRCm39) missense probably damaging 0.99
R4547:Ano4 UTSW 10 88,817,032 (GRCm39) missense probably null
R4638:Ano4 UTSW 10 88,790,559 (GRCm39) missense probably damaging 1.00
R4640:Ano4 UTSW 10 88,790,559 (GRCm39) missense probably damaging 1.00
R4876:Ano4 UTSW 10 88,948,697 (GRCm39) missense probably damaging 1.00
R5007:Ano4 UTSW 10 88,948,807 (GRCm39) missense probably benign 0.26
R5104:Ano4 UTSW 10 88,903,974 (GRCm39) missense possibly damaging 0.61
R5151:Ano4 UTSW 10 88,948,775 (GRCm39) missense probably damaging 1.00
R5215:Ano4 UTSW 10 89,153,165 (GRCm39) missense possibly damaging 0.86
R5396:Ano4 UTSW 10 88,948,702 (GRCm39) missense probably damaging 1.00
R5826:Ano4 UTSW 10 88,788,189 (GRCm39) missense probably damaging 1.00
R6018:Ano4 UTSW 10 88,865,128 (GRCm39) missense probably benign 0.01
R6036:Ano4 UTSW 10 88,818,127 (GRCm39) missense possibly damaging 0.95
R6037:Ano4 UTSW 10 89,153,108 (GRCm39) missense possibly damaging 0.93
R6037:Ano4 UTSW 10 89,153,108 (GRCm39) missense possibly damaging 0.93
R6222:Ano4 UTSW 10 88,863,084 (GRCm39) missense probably damaging 1.00
R6387:Ano4 UTSW 10 88,807,267 (GRCm39) nonsense probably null
R6521:Ano4 UTSW 10 88,819,640 (GRCm39) missense probably damaging 0.98
R6739:Ano4 UTSW 10 88,863,114 (GRCm39) missense probably damaging 1.00
R6786:Ano4 UTSW 10 88,828,732 (GRCm39) splice site probably null
R7035:Ano4 UTSW 10 88,790,573 (GRCm39) missense probably damaging 1.00
R7523:Ano4 UTSW 10 88,807,257 (GRCm39) nonsense probably null
R7715:Ano4 UTSW 10 88,831,173 (GRCm39) missense probably damaging 0.99
R7930:Ano4 UTSW 10 89,163,138 (GRCm39) missense possibly damaging 0.53
R7955:Ano4 UTSW 10 88,831,088 (GRCm39) missense probably null 0.45
R7975:Ano4 UTSW 10 88,952,847 (GRCm39) missense possibly damaging 0.46
R8005:Ano4 UTSW 10 88,807,183 (GRCm39) missense probably benign 0.04
R8024:Ano4 UTSW 10 88,807,194 (GRCm39) missense probably damaging 1.00
R8168:Ano4 UTSW 10 88,816,857 (GRCm39) missense probably damaging 0.96
R8190:Ano4 UTSW 10 88,808,607 (GRCm39) missense probably benign 0.13
R8206:Ano4 UTSW 10 88,860,958 (GRCm39) missense probably damaging 1.00
R8252:Ano4 UTSW 10 88,816,881 (GRCm39) missense probably damaging 1.00
R8285:Ano4 UTSW 10 88,904,079 (GRCm39) missense probably damaging 0.98
R8917:Ano4 UTSW 10 88,788,160 (GRCm39) missense probably damaging 1.00
R9302:Ano4 UTSW 10 88,831,220 (GRCm39) missense probably benign 0.00
R9688:Ano4 UTSW 10 89,180,506 (GRCm39) start codon destroyed probably null 0.02
T0970:Ano4 UTSW 10 88,817,052 (GRCm39) nonsense probably null
Z1176:Ano4 UTSW 10 88,948,807 (GRCm39) missense probably benign 0.37
Predicted Primers
Posted On 2017-06-26