Incidental Mutation 'R5813:Ano7'
ID 447589
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 # R5813 (G1)
Quality Score 163
Status Not validated
Chromosome 1
Chromosomal Location 93301652-93332025 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 93312641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058682] [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: ENSMUST00000186641
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 A G 3: 89,253,135 (GRCm39) Y230H probably benign Het
Arap2 T C 5: 62,834,506 (GRCm39) Y792C probably damaging Het
Art3 C A 5: 92,560,100 (GRCm39) probably benign Het
Atad2 C T 15: 57,963,250 (GRCm39) G1085D probably benign Het
Birc6 C A 17: 74,953,497 (GRCm39) A3253E probably damaging Het
C9 C T 15: 6,526,607 (GRCm39) P547L probably benign Het
Cecr2 T C 6: 120,739,169 (GRCm39) S1271P probably damaging Het
Ces1e T A 8: 93,948,305 (GRCm39) K105* probably null Het
Cpsf4 A G 5: 145,115,683 (GRCm39) N204S probably benign Het
Cracd A G 5: 77,006,275 (GRCm39) T879A unknown Het
Dgkz T C 2: 91,769,733 (GRCm39) D615G possibly damaging Het
Disp1 G T 1: 182,869,974 (GRCm39) N815K probably damaging Het
Enah A G 1: 181,758,750 (GRCm39) probably benign Het
Fcgbp A G 7: 27,800,919 (GRCm39) T1322A possibly damaging Het
Frem1 A G 4: 82,918,395 (GRCm39) F516L probably damaging Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Fyco1 T C 9: 123,660,413 (GRCm39) Y190C probably damaging Het
Gfra1 T C 19: 58,227,687 (GRCm39) D417G probably benign Het
Gigyf2 T C 1: 87,368,485 (GRCm39) I1055T probably damaging Het
Invs A G 4: 48,398,146 (GRCm39) E444G probably damaging Het
Itga10 A G 3: 96,559,901 (GRCm39) T519A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm2b A G 5: 123,009,931 (GRCm39) S727P probably benign Het
Kidins220 A T 12: 25,107,139 (GRCm39) K1531* probably null Het
Ksr1 C T 11: 78,929,024 (GRCm39) V266M probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipi T C 16: 75,370,798 (GRCm39) R140G possibly damaging Het
Lrrc32 T C 7: 98,147,618 (GRCm39) S133P probably damaging Het
Map3k7 T A 4: 31,964,318 (GRCm39) I19N probably damaging Het
Marf1 A G 16: 13,970,449 (GRCm39) V90A probably benign Het
Mark3 T C 12: 111,621,877 (GRCm39) L673P probably damaging Het
Meis1 T C 11: 18,966,229 (GRCm39) H48R probably benign Het
Mettl26 G A 17: 26,094,995 (GRCm39) V87M probably damaging Het
Mknk2 T C 10: 80,511,696 (GRCm39) R5G probably benign Het
Mtcl3 G T 10: 29,026,240 (GRCm39) V441F probably damaging Het
Mterf1b T C 5: 4,246,956 (GRCm39) V199A possibly damaging Het
Ncs1 T A 2: 31,170,666 (GRCm39) probably null Het
Nek10 T C 14: 14,986,704 (GRCm38) V1014A probably benign Het
Notch2 A G 3: 98,042,744 (GRCm39) N1370D probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Opn5 C G 17: 42,903,897 (GRCm39) R146T probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or8b55 T A 9: 38,726,952 (GRCm39) M51K probably benign Het
Or8g33 A G 9: 39,338,032 (GRCm39) C112R probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcyox1l C T 18: 61,832,359 (GRCm39) probably null Het
Plxnb2 T C 15: 89,044,962 (GRCm39) T1128A possibly damaging Het
Prex1 T C 2: 166,425,127 (GRCm39) T960A probably benign Het
Prkaa2 A C 4: 104,893,291 (GRCm39) *553G probably null Het
Rasgrp4 A G 7: 28,844,639 (GRCm39) D297G probably damaging Het
Sdf4 G A 4: 156,083,856 (GRCm39) V109I probably benign Het
Serpinb3d T C 1: 107,007,027 (GRCm39) K227R probably benign Het
Sgsm1 A T 5: 113,398,822 (GRCm39) I750N probably damaging Het
Shtn1 T A 19: 59,020,673 (GRCm39) K183M probably damaging Het
Skic3 A G 13: 76,303,852 (GRCm39) T1257A probably benign Het
Slc22a30 T C 19: 8,381,945 (GRCm39) T109A probably benign Het
Slco1c1 A G 6: 141,487,929 (GRCm39) D99G probably damaging Het
Tcf25 T A 8: 124,122,354 (GRCm39) probably null Het
Tex10 A G 4: 48,452,928 (GRCm39) V677A probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Trappc10 T A 10: 78,058,573 (GRCm39) N136I probably damaging Het
Trpt1 T C 19: 6,975,906 (GRCm39) F173L probably benign Het
Ube4b G A 4: 149,421,925 (GRCm39) R955C probably damaging Het
Usp34 C A 11: 23,371,340 (GRCm39) P1840T probably benign Het
Vmn1r27 A T 6: 58,192,985 (GRCm39) N6K possibly damaging Het
Wdr25 T C 12: 108,993,347 (GRCm39) V521A possibly damaging Het
Wdr64 G A 1: 175,639,623 (GRCm39) E1031K possibly damaging Het
Wnt10a A G 1: 74,839,755 (GRCm39) N147S probably damaging Het
Zbed5 T C 5: 129,931,059 (GRCm39) I336T possibly damaging Het
Zfp758 T A 17: 22,594,796 (GRCm39) H427Q probably damaging Het
Zfp961 C A 8: 72,722,070 (GRCm39) H194Q probably damaging 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
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
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'- CACCTAGGCTATGGCGTTGTTG -3'
(R):5'- GGGCATGATCCCTTGTTCAC -3'

Sequencing Primer
(F):5'- GCCATTTCCTGAGTGTGAATAGACAC -3'
(R):5'- CGCCACGGGGTGTTTTCAG -3'
Posted On 2016-12-15