Incidental Mutation 'R2763:Ano7'
ID 254134
Institutional Source Beutler Lab
Gene Symbol Ano7
Ensembl Gene ENSMUSG00000034107
Gene Name anoctamin 7
Synonyms NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2763 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93301652-93332025 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 93326908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058682] [ENSMUST00000058682] [ENSMUST00000186641] [ENSMUST00000186641]
AlphaFold Q14AT5
Predicted Effect probably null
Transcript: ENSMUST00000058682
SMART Domains Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107

DomainStartEndE-ValueType
Pfam:Anoct_dimer 49 274 2.2e-63 PFAM
Pfam:Anoctamin 277 824 3.4e-146 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000058682
SMART Domains Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107

DomainStartEndE-ValueType
Pfam:Anoct_dimer 49 274 2.2e-63 PFAM
Pfam:Anoctamin 277 824 3.4e-146 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000186641
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000186641
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190340
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T A 15: 83,111,871 (GRCm39) D304V probably benign Het
Ablim3 T A 18: 61,946,615 (GRCm39) K516* probably null Het
Akap11 A G 14: 78,756,332 (GRCm39) F22S probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Apol9a T C 15: 77,288,617 (GRCm39) E250G probably benign Het
Calcrl T C 2: 84,200,847 (GRCm39) R66G probably damaging Het
Camta2 G A 11: 70,573,356 (GRCm39) Q187* probably null Het
Cd177 G A 7: 24,457,462 (GRCm39) A193V probably benign Het
Cdk5rap2 A G 4: 70,199,508 (GRCm39) V872A probably benign Het
Cebpz A G 17: 79,243,358 (GRCm39) S99P probably benign Het
Cmtr1 G A 17: 29,899,602 (GRCm39) E632K possibly damaging Het
Dysf A T 6: 84,083,914 (GRCm39) H782L probably benign Het
Fem1a A G 17: 56,564,537 (GRCm39) E210G probably benign Het
Golga3 T C 5: 110,352,761 (GRCm39) I884T possibly damaging Het
Gstm6 G A 3: 107,848,358 (GRCm39) T173M possibly damaging Het
Pcdhgb8 T A 18: 37,895,315 (GRCm39) N128K probably damaging Het
Phkg2 A G 7: 127,179,005 (GRCm39) E139G probably benign Het
Sdk1 T A 5: 142,070,306 (GRCm39) V1157E possibly damaging Het
Septin9 C T 11: 117,217,327 (GRCm39) T6I probably benign Het
Shkbp1 T A 7: 27,046,454 (GRCm39) M437L probably benign Het
Svep1 A G 4: 58,084,061 (GRCm39) C1904R possibly damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Zfp646 T A 7: 127,479,210 (GRCm39) C242* probably null 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
R4202:Ano7 UTSW 1 93,308,200 (GRCm39) missense probably benign 0.00
R4204: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'- CAAGGTAGTCCAGGCATGTC -3'
(R):5'- TGACAGGCTCTCCAATACCC -3'

Sequencing Primer
(F):5'- CAAGGTAGTCCAGGCATGTCCTATG -3'
(R):5'- CCAGACACAGCAACAAATGAGATAGG -3'
Posted On 2014-12-04