Incidental Mutation 'R4204:Ano7'
ID 318813
Institutional Source Beutler Lab
Gene Symbol Ano7
Ensembl Gene ENSMUSG00000034107
Gene Name anoctamin 7
Synonyms NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5
MMRRC Submission 041033-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4204 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93301652-93332025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93308200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000140438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058682] [ENSMUST00000186641]
AlphaFold Q14AT5
Predicted Effect probably benign
Transcript: ENSMUST00000058682
AA Change: D77G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: D77G

DomainStartEndE-ValueType
Pfam:Anoct_dimer 49 274 2.2e-63 PFAM
Pfam:Anoctamin 277 824 3.4e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186641
AA Change: D77G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: D77G

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Meta Mutation Damage Score 0.2201 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. In humans, this protein is primarily found in prostate tissues and may serve as a target for prostate cancer immunotherapy. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,090,369 (GRCm39) K360R probably benign Het
B130006D01Rik A G 11: 95,617,250 (GRCm39) probably benign Het
BC028528 A T 3: 95,797,057 (GRCm39) Y37* probably null Het
Ccdc171 A T 4: 83,599,392 (GRCm39) M736L probably benign Het
Ccdc88a A G 11: 29,413,399 (GRCm39) K646E probably damaging Het
Fam83b T C 9: 76,410,335 (GRCm39) T192A probably benign Het
Hgs C A 11: 120,368,013 (GRCm39) P241T probably damaging Het
Itga4 T C 2: 79,109,505 (GRCm39) Y235H probably damaging Het
Kank2 A G 9: 21,706,923 (GRCm39) Y32H probably damaging Het
Kprp A C 3: 92,732,046 (GRCm39) S335A probably damaging Het
Lgals9 C T 11: 78,860,642 (GRCm39) probably benign Het
Mfrp G A 9: 44,016,525 (GRCm39) G407S possibly damaging Het
Mfsd9 C T 1: 40,820,670 (GRCm39) G160R probably damaging Het
Mrtfb A T 16: 13,221,119 (GRCm39) Q776L possibly damaging Het
Mtcl1 T C 17: 66,745,256 (GRCm39) Y35C probably damaging Het
Nhej1 A T 1: 75,085,782 (GRCm39) I6N probably damaging Het
Npy5r G T 8: 67,134,693 (GRCm39) Y33* probably null Het
Or4c120 A G 2: 89,001,124 (GRCm39) V144A probably benign Het
Pcdha8 G C 18: 37,127,737 (GRCm39) V740L probably damaging Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pex14 T C 4: 149,047,984 (GRCm39) T198A probably benign Het
Ppp2r2b T A 18: 42,871,115 (GRCm39) H62L probably benign Het
Prodh A G 16: 17,890,182 (GRCm39) V553A probably damaging Het
Rasgef1c G A 11: 49,849,535 (GRCm39) V137M probably benign Het
Resf1 C T 6: 149,231,042 (GRCm39) R1363* probably null Het
Rgl2 G T 17: 34,155,906 (GRCm39) V694L probably benign Het
Rnf133 T C 6: 23,649,048 (GRCm39) N294D probably benign Het
Rpe65 G A 3: 159,310,047 (GRCm39) A107T probably damaging Het
Sacs A G 14: 61,410,892 (GRCm39) R56G possibly damaging Het
Serp2 A G 14: 76,793,902 (GRCm39) I18T probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis T C 3: 72,868,415 (GRCm39) I92V probably benign Het
Tcaim A G 9: 122,662,683 (GRCm39) K417R probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmem132c A G 5: 127,640,829 (GRCm39) D1000G possibly damaging Het
Trpm3 T A 19: 22,964,928 (GRCm39) D1474E probably benign Het
Ubxn2a T C 12: 4,944,593 (GRCm39) E43G probably damaging Het
Utp14b G A 1: 78,642,539 (GRCm39) E146K probably benign Het
Zfp800 C T 6: 28,243,180 (GRCm39) S595N probably benign Het
Other mutations in Ano7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Ano7 APN 1 93,329,888 (GRCm39) missense probably benign 0.04
IGL00838:Ano7 APN 1 93,330,479 (GRCm39) missense possibly damaging 0.91
IGL01295:Ano7 APN 1 93,308,200 (GRCm39) missense probably benign 0.00
IGL01322:Ano7 APN 1 93,323,230 (GRCm39) missense probably benign 0.08
IGL01807:Ano7 APN 1 93,330,418 (GRCm39) missense possibly damaging 0.66
IGL01859:Ano7 APN 1 93,322,168 (GRCm39) missense probably damaging 1.00
IGL02349:Ano7 APN 1 93,319,212 (GRCm39) missense probably benign 0.02
IGL02976:Ano7 APN 1 93,330,395 (GRCm39) missense possibly damaging 0.78
R0360:Ano7 UTSW 1 93,316,380 (GRCm39) missense probably benign 0.01
R0364:Ano7 UTSW 1 93,316,380 (GRCm39) missense probably benign 0.01
R0528:Ano7 UTSW 1 93,323,224 (GRCm39) missense probably null 1.00
R0741:Ano7 UTSW 1 93,329,309 (GRCm39) missense probably damaging 0.97
R1131:Ano7 UTSW 1 93,329,498 (GRCm39) missense probably benign 0.24
R1156:Ano7 UTSW 1 93,329,574 (GRCm39) splice site probably null
R1500:Ano7 UTSW 1 93,325,050 (GRCm39) missense probably damaging 1.00
R1710:Ano7 UTSW 1 93,313,346 (GRCm39) missense probably benign 0.00
R2002:Ano7 UTSW 1 93,328,303 (GRCm39) unclassified probably benign
R2062:Ano7 UTSW 1 93,318,035 (GRCm39) missense probably benign
R2120:Ano7 UTSW 1 93,329,855 (GRCm39) splice site probably benign
R2200:Ano7 UTSW 1 93,308,158 (GRCm39) missense possibly damaging 0.93
R2268:Ano7 UTSW 1 93,308,161 (GRCm39) missense possibly damaging 0.51
R2763:Ano7 UTSW 1 93,326,908 (GRCm39) splice site probably null
R4202:Ano7 UTSW 1 93,308,200 (GRCm39) missense probably benign 0.00
R4205:Ano7 UTSW 1 93,308,200 (GRCm39) missense probably benign 0.00
R4453:Ano7 UTSW 1 93,322,075 (GRCm39) missense probably damaging 1.00
R4627:Ano7 UTSW 1 93,302,907 (GRCm39) missense probably benign 0.15
R4735:Ano7 UTSW 1 93,328,216 (GRCm39) missense probably benign
R4809:Ano7 UTSW 1 93,322,288 (GRCm39) missense probably benign 0.20
R4935:Ano7 UTSW 1 93,323,036 (GRCm39) missense possibly damaging 0.48
R4970:Ano7 UTSW 1 93,325,085 (GRCm39) missense possibly damaging 0.77
R5112:Ano7 UTSW 1 93,325,085 (GRCm39) missense possibly damaging 0.77
R5249:Ano7 UTSW 1 93,302,918 (GRCm39) missense probably benign
R5813:Ano7 UTSW 1 93,312,641 (GRCm39) critical splice donor site probably null
R6181:Ano7 UTSW 1 93,323,081 (GRCm39) missense probably damaging 1.00
R7106:Ano7 UTSW 1 93,302,705 (GRCm39) splice site probably null
R7113:Ano7 UTSW 1 93,313,342 (GRCm39) missense probably benign 0.10
R7199:Ano7 UTSW 1 93,330,700 (GRCm39) missense
R7218:Ano7 UTSW 1 93,308,191 (GRCm39) missense probably benign 0.01
R7381:Ano7 UTSW 1 93,323,057 (GRCm39) missense probably benign
R7722:Ano7 UTSW 1 93,318,145 (GRCm39) missense probably damaging 0.99
R7832:Ano7 UTSW 1 93,322,195 (GRCm39) missense probably benign 0.06
R8700:Ano7 UTSW 1 93,316,329 (GRCm39) missense probably damaging 1.00
R9729:Ano7 UTSW 1 93,322,180 (GRCm39) missense probably damaging 1.00
Z1176:Ano7 UTSW 1 93,322,187 (GRCm39) missense probably benign 0.26
Z1177:Ano7 UTSW 1 93,329,249 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAAACCCATGGCTCTCACTTC -3'
(R):5'- TGCTTCATATCCTTGGGCAG -3'

Sequencing Primer
(F):5'- GCATCCCTGCTGAGACCAC -3'
(R):5'- TCATATCCTTGGGCAGTAAGC -3'
Posted On 2015-06-10