Incidental Mutation 'R6387:Ano4'
ID 514664
Institutional Source Beutler Lab
Gene Symbol Ano4
Ensembl Gene ENSMUSG00000035189
Gene Name anoctamin 4
Synonyms Tmem16d, A330096O15Rik
MMRRC Submission 044536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6387 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 88784856-89180624 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 88807267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 736 (Y736*)
Ref Sequence ENSEMBL: ENSMUSP00000138325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182341] [ENSMUST00000182462] [ENSMUST00000182613] [ENSMUST00000182790]
AlphaFold Q8C5H1
Predicted Effect probably null
Transcript: ENSMUST00000182341
AA Change: Y771*
SMART Domains Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: Y771*

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 probably null
Transcript: ENSMUST00000182613
AA Change: Y736*
SMART Domains Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: Y736*

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182790
AA Change: Y736*
SMART Domains Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: Y736*

DomainStartEndE-ValueType
Pfam:Anoctamin 304 887 3.6e-162 PFAM
low complexity region 897 910 N/A INTRINSIC
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,881 (GRCm39) K326E possibly damaging Het
Acot1 A G 12: 84,056,627 (GRCm39) D115G probably benign Het
Adm T C 7: 110,227,502 (GRCm39) I6T possibly damaging Het
Ahi1 A G 10: 20,844,942 (GRCm39) Y349C probably damaging Het
Aldh1a1 A G 19: 20,595,323 (GRCm39) E84G probably damaging Het
Ankrd31 A G 13: 96,967,081 (GRCm39) D520G probably damaging Het
Atp6v1a A G 16: 43,907,806 (GRCm39) F612S possibly damaging Het
Bltp3b C T 10: 89,638,919 (GRCm39) Q442* probably null Het
Calcb G A 7: 114,319,025 (GRCm39) V17I possibly damaging Het
Cfap70 C T 14: 20,498,643 (GRCm39) V15M probably damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Csgalnact1 C T 8: 68,811,365 (GRCm39) G435D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eprs1 T A 1: 185,119,281 (GRCm39) M487K possibly damaging Het
Fat4 A G 3: 39,037,934 (GRCm39) E3862G probably damaging Het
Gdf10 T A 14: 33,645,961 (GRCm39) S37T probably benign Het
Hhatl T A 9: 121,619,467 (GRCm39) H39L probably benign Het
Icam4 A C 9: 20,941,505 (GRCm39) S215R possibly damaging Het
Ighv1-18 T C 12: 114,646,280 (GRCm39) E108G probably damaging Het
Iqcd T C 5: 120,744,920 (GRCm39) I416T probably benign Het
Marf1 T A 16: 13,959,504 (GRCm39) *577L probably null Het
Mark2 A G 19: 7,263,267 (GRCm39) F167L probably damaging Het
Mpdz T C 4: 81,299,946 (GRCm39) T351A possibly damaging Het
Mrps27 A G 13: 99,536,825 (GRCm39) I113V possibly damaging Het
Numbl C T 7: 26,976,115 (GRCm39) T265I probably damaging Het
Obsl1 C T 1: 75,468,006 (GRCm39) A1296T probably benign Het
Or10g9 A G 9: 39,912,148 (GRCm39) I125T probably damaging Het
Pcdhb21 A G 18: 37,648,385 (GRCm39) I505V probably benign Het
Pfas A G 11: 68,891,291 (GRCm39) F269L probably damaging Het
Prkdc G A 16: 15,516,679 (GRCm39) V1018I probably benign Het
Prl4a1 T A 13: 28,202,482 (GRCm39) V19E possibly damaging Het
Ptpn22 A G 3: 103,792,702 (GRCm39) D327G probably benign Het
Smad3 G T 9: 63,562,047 (GRCm39) D310E probably benign Het
Sparcl1 T A 5: 104,232,926 (GRCm39) D625V probably damaging Het
Spta1 G A 1: 174,058,899 (GRCm39) A1945T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sympk T C 7: 18,786,423 (GRCm39) Y1009H possibly damaging Het
Trio A G 15: 27,752,825 (GRCm39) F1026L probably damaging Het
Unc5d T A 8: 29,365,554 (GRCm39) K144* probably null Het
Unk A G 11: 115,945,766 (GRCm39) N479S possibly damaging Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zfp993 A G 4: 146,741,975 (GRCm39) T100A 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
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
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 PCR Primer
(F):5'- CCATGCAATGGCTAAGAAATGG -3'
(R):5'- CCCCAAGCCATGAGTACATTG -3'

Sequencing Primer
(F):5'- TGCAATGGCTAAGAAATGGAAGTTTC -3'
(R):5'- GCCATGAGTACATTGGTATATGCAC -3'
Posted On 2018-05-04