Incidental Mutation 'R1500:Ano7'
ID 169148
Institutional Source Beutler Lab
Gene Symbol Ano7
Ensembl Gene ENSMUSG00000034107
Gene Name anoctamin 7
Synonyms NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5
MMRRC Submission 039551-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1500 (G1)
Quality Score 161
Status Validated
Chromosome 1
Chromosomal Location 93301652-93332025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93325050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 534 (F534S)
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: F534S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: F534S

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: F534S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: F534S

DomainStartEndE-ValueType
Pfam:Anoctamin 277 825 6.6e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190340
Meta Mutation Damage Score 0.2753 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 95% (81/85)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 A G 17: 31,330,253 (GRCm39) D518G probably benign Het
Acaca T A 11: 84,184,810 (GRCm39) D96E probably benign Het
Actbl2 G A 13: 111,391,854 (GRCm39) R63Q probably damaging Het
Adamts6 T A 13: 104,449,389 (GRCm39) H266Q probably damaging Het
Aff4 T C 11: 53,263,205 (GRCm39) V75A probably benign Het
Ank2 A G 3: 126,726,631 (GRCm39) S888P probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bcam T A 7: 19,492,889 (GRCm39) D484V possibly damaging Het
Bltp2 C A 11: 78,174,958 (GRCm39) Q1698K possibly damaging Het
Ccdc88a T C 11: 29,432,713 (GRCm39) Y1240H probably benign Het
Cfh T C 1: 140,028,614 (GRCm39) Y500C probably damaging Het
Chd1l G A 3: 97,490,121 (GRCm39) A478V probably benign Het
Dnah1 T C 14: 31,038,715 (GRCm39) D122G probably benign Het
Dnah11 A T 12: 117,976,564 (GRCm39) probably null Het
Dnah17 T C 11: 117,991,879 (GRCm39) K1230E probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
E330020D12Rik A T 1: 153,284,125 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,462,992 (GRCm39) L639P probably damaging Het
Epha3 A T 16: 63,416,025 (GRCm39) V658E probably benign Het
Erbb2 C T 11: 98,319,804 (GRCm39) T632I probably damaging Het
Erc2 A G 14: 27,993,617 (GRCm39) T883A probably damaging Het
Extl2 T C 3: 115,820,789 (GRCm39) V198A probably benign Het
Fktn G T 4: 53,735,065 (GRCm39) M234I probably benign Het
Ggt7 A G 2: 155,340,966 (GRCm39) S400P probably benign Het
Gldc A C 19: 30,091,225 (GRCm39) V790G possibly damaging Het
Gm14496 A C 2: 181,633,026 (GRCm39) Q3P probably benign Het
H2-D1 G A 17: 35,482,564 (GRCm39) E95K probably benign Het
Ikzf3 T C 11: 98,409,521 (GRCm39) E14G probably benign Het
Jag1 A T 2: 136,957,558 (GRCm39) N51K possibly damaging Het
Khdrbs3 A G 15: 68,800,635 (GRCm39) D14G possibly damaging Het
Krt84 A G 15: 101,438,659 (GRCm39) V276A probably damaging Het
Lamb1 T C 12: 31,348,948 (GRCm39) I660T possibly damaging Het
Lcmt2 A T 2: 120,970,488 (GRCm39) S198R probably benign Het
Lcn6 G A 2: 25,567,131 (GRCm39) R44H probably benign Het
Lrfn5 A T 12: 61,886,527 (GRCm39) H105L probably damaging Het
Lrit1 G A 14: 36,784,091 (GRCm39) R473K probably benign Het
Marchf1 A G 8: 66,921,042 (GRCm39) T495A probably damaging Het
Marveld3 T G 8: 110,675,174 (GRCm39) probably null Het
Mbd3 T C 10: 80,230,420 (GRCm39) D160G possibly damaging Het
Mrc2 T G 11: 105,238,551 (GRCm39) C1233G probably damaging Het
Ms4a13 T G 19: 11,161,225 (GRCm39) T105P probably damaging Het
Mtbp T C 15: 55,480,951 (GRCm39) Y306H probably damaging Het
Muc3a T C 5: 137,244,958 (GRCm39) probably benign Het
Myo1g T A 11: 6,470,811 (GRCm39) Y15F probably benign Het
Nae1 A T 8: 105,250,216 (GRCm39) Y226N probably benign Het
Nlrp9a A G 7: 26,267,316 (GRCm39) S715G probably benign Het
Or1j10 A T 2: 36,267,633 (GRCm39) M282L probably benign Het
Or2ag17 T C 7: 106,390,028 (GRCm39) Y60C probably damaging Het
Or4s2b T A 2: 88,508,219 (GRCm39) S7T possibly damaging Het
Or7g26 A T 9: 19,230,612 (GRCm39) S267C probably damaging Het
Or8g55 G T 9: 39,784,707 (GRCm39) M45I probably benign Het
Pex5l T C 3: 33,069,129 (GRCm39) T123A probably damaging Het
Pip5kl1 A T 2: 32,466,691 (GRCm39) N62I probably benign Het
Pkhd1l1 T C 15: 44,408,890 (GRCm39) V2459A probably damaging Het
Prb1a T A 6: 132,184,439 (GRCm39) Q398L unknown Het
Prkab2 T C 3: 97,571,263 (GRCm39) L165S probably damaging Het
Prl3d2 C G 13: 27,305,689 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,143,472 (GRCm39) G435D probably benign Het
Qrfpr A G 3: 36,236,729 (GRCm39) L224P probably damaging Het
Rasl2-9 C T 7: 5,128,441 (GRCm39) W163* probably null Het
Rgs5 A G 1: 169,517,983 (GRCm39) probably null Het
Rnf19b T C 4: 128,972,754 (GRCm39) L255P probably damaging Het
Rp9 A C 9: 22,368,751 (GRCm39) N69K probably damaging Het
Sh3bp4 G T 1: 89,073,210 (GRCm39) S686I probably damaging Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Spp2 C A 1: 88,340,015 (GRCm39) Q5K possibly damaging Het
Svep1 C T 4: 58,070,239 (GRCm39) G2516R probably damaging Het
Syncrip A C 9: 88,361,949 (GRCm39) S55R probably damaging Het
Tacc3 T C 5: 33,818,652 (GRCm39) L29P probably damaging Het
Tex15 A G 8: 34,065,120 (GRCm39) T1517A probably damaging Het
Tmem140 A G 6: 34,849,660 (GRCm39) M59V probably benign Het
Ttn G T 2: 76,575,872 (GRCm39) A25007E probably damaging Het
Ubr2 T C 17: 47,297,615 (GRCm39) T253A possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usp38 A G 8: 81,722,399 (GRCm39) L374P probably damaging Het
Vmn1r42 T A 6: 89,822,483 (GRCm39) I29L probably benign Het
Vmn2r94 C T 17: 18,477,242 (GRCm39) V390M probably benign Het
Vmp1 A G 11: 86,552,026 (GRCm39) Y113H possibly damaging Het
Wdr20 T C 12: 110,760,464 (GRCm39) M450T probably benign Het
Ylpm1 T C 12: 85,061,770 (GRCm39) V557A unknown Het
Zpld1 T C 16: 55,053,935 (GRCm39) N286D 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
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
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'- ACAGACCAGTGGTTGCGCTTTG -3'
(R):5'- AGCCCAGTGGTAGTCAGTCTTTCTC -3'

Sequencing Primer
(F):5'- gcagacaggatttacctccac -3'
(R):5'- CAGGGCTTTTGCCCTAGC -3'
Posted On 2014-04-13