Incidental Mutation 'R4453:Ano7'
ID 329034
Institutional Source Beutler Lab
Gene Symbol Ano7
Ensembl Gene ENSMUSG00000034107
Gene Name anoctamin 7
Synonyms NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5
MMRRC Submission 041152-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4453 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93301652-93332025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93322075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 361 (D361G)
Ref Sequence ENSEMBL: ENSMUSP00000140438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058682] [ENSMUST00000186641]
AlphaFold Q14AT5
Predicted Effect probably damaging
Transcript: ENSMUST00000058682
AA Change: D361G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: D361G

DomainStartEndE-ValueType
Pfam:Anoct_dimer 49 274 2.2e-63 PFAM
Pfam:Anoctamin 277 824 3.4e-146 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186641
AA Change: D361G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: D361G

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Ccdc86 G T 19: 10,925,883 (GRCm39) P239T probably damaging Het
Ces2h G A 8: 105,741,288 (GRCm39) probably null Het
Ckap5 T A 2: 91,379,190 (GRCm39) S43R probably damaging Het
Cpne6 G A 14: 55,750,054 (GRCm39) V62M probably damaging Het
Dmbt1 T C 7: 130,642,664 (GRCm39) C161R probably damaging Het
Dnajc10 T C 2: 80,176,967 (GRCm39) S641P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Grm2 G A 9: 106,531,078 (GRCm39) T137I probably damaging Het
Gusb A G 5: 130,027,324 (GRCm39) V327A possibly damaging Het
Helz C T 11: 107,563,455 (GRCm39) Q1631* probably null Het
Hspa1a A G 17: 35,189,269 (GRCm39) Y545H probably benign Het
Hus1 A T 11: 8,956,035 (GRCm39) M166K probably damaging Het
Kcnh1 C A 1: 192,187,825 (GRCm39) T762K probably damaging Het
Limd1 C A 9: 123,309,359 (GRCm39) Q353K possibly damaging Het
Lipe T A 7: 25,097,115 (GRCm39) K276I probably damaging Het
Ntpcr G A 8: 126,462,929 (GRCm39) V49I probably benign Het
Or6c70 T C 10: 129,710,530 (GRCm39) N32S probably null Het
Ppp1r1c A G 2: 79,538,575 (GRCm39) I20V possibly damaging Het
Prdm13 G T 4: 21,679,464 (GRCm39) A342E unknown Het
Prkd3 C A 17: 79,290,975 (GRCm39) R180L probably damaging Het
Prune2 T C 19: 17,099,274 (GRCm39) F1593L probably benign Het
Rims2 T A 15: 39,155,603 (GRCm39) C95S probably damaging Het
Stard9 A G 2: 120,528,272 (GRCm39) M1510V probably benign Het
Taf12 A G 4: 132,010,306 (GRCm39) I92V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tssk5 G A 15: 76,258,743 (GRCm39) R48C probably benign Het
Wwtr1 T C 3: 57,482,680 (GRCm39) probably null Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zfp473 T A 7: 44,382,678 (GRCm39) T552S probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L 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
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
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'- CCGAGACTGAAACTAATTACTGTG -3'
(R):5'- AAGTAGGGCTCATCTTCCCC -3'

Sequencing Primer
(F):5'- GACTGAAACTAATTACTGTGGCTGC -3'
(R):5'- CTCCTGAAAGGGAGCTATGC -3'
Posted On 2015-07-21