Incidental Mutation 'IGL01807:Ano7'
ID |
155709 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL01807
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93330418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 814
(E814G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058682]
[ENSMUST00000170883]
[ENSMUST00000186641]
|
AlphaFold |
Q14AT5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058682
AA Change: E814G
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000050495 Gene: ENSMUSG00000034107 AA Change: E814G
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
49 |
274 |
2.2e-63 |
PFAM |
Pfam:Anoctamin
|
277 |
824 |
3.4e-146 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170883
|
SMART Domains |
Protein: ENSMUSP00000127903 Gene: ENSMUSG00000034088
Domain | Start | End | E-Value | Type |
KH
|
149 |
217 |
1.97e-15 |
SMART |
KH
|
221 |
289 |
1.8e-9 |
SMART |
KH
|
294 |
362 |
1.73e-11 |
SMART |
KH
|
363 |
429 |
2.66e-12 |
SMART |
KH
|
434 |
502 |
9.18e-16 |
SMART |
KH
|
506 |
575 |
7.52e-12 |
SMART |
KH
|
580 |
648 |
7.68e-18 |
SMART |
KH
|
652 |
721 |
3.24e-16 |
SMART |
KH
|
726 |
795 |
1.33e-12 |
SMART |
KH
|
799 |
868 |
2.48e-12 |
SMART |
KH
|
872 |
972 |
3.03e-16 |
SMART |
KH
|
973 |
1039 |
4.56e-11 |
SMART |
KH
|
1051 |
1122 |
3.67e-15 |
SMART |
KH
|
1126 |
1195 |
3.37e-14 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186641
AA Change: E814G
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140438 Gene: ENSMUSG00000034107 AA Change: E814G
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
277 |
825 |
6.6e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190340
|
Coding Region Coverage |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
G |
T |
6: 142,551,640 (GRCm39) |
L1223M |
probably damaging |
Het |
Atf1 |
T |
C |
15: 100,149,945 (GRCm39) |
|
probably benign |
Het |
Bco2 |
T |
C |
9: 50,457,158 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,938,032 (GRCm39) |
I2625V |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,654,897 (GRCm39) |
S545P |
probably benign |
Het |
Cacna1i |
T |
A |
15: 80,258,348 (GRCm39) |
I1173N |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,206,616 (GRCm39) |
E210G |
probably benign |
Het |
Ccl2 |
G |
A |
11: 81,926,513 (GRCm39) |
G9D |
possibly damaging |
Het |
Chmp2b |
T |
A |
16: 65,337,091 (GRCm39) |
T189S |
probably benign |
Het |
Col4a1 |
A |
T |
8: 11,297,056 (GRCm39) |
|
probably benign |
Het |
Ecm1 |
A |
G |
3: 95,643,891 (GRCm39) |
S236P |
probably damaging |
Het |
Epha8 |
A |
G |
4: 136,658,993 (GRCm39) |
V887A |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,533,856 (GRCm39) |
M36V |
probably benign |
Het |
Fbxo15 |
T |
A |
18: 84,999,506 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,494,976 (GRCm39) |
I423V |
possibly damaging |
Het |
Ngly1 |
C |
T |
14: 16,290,873 (GRCm38) |
L452F |
probably benign |
Het |
Or52u1 |
T |
A |
7: 104,237,091 (GRCm39) |
W27R |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,936 (GRCm39) |
T166A |
possibly damaging |
Het |
Pak2 |
T |
C |
16: 31,856,097 (GRCm39) |
K247E |
probably damaging |
Het |
Pola2 |
A |
G |
19: 6,003,187 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
C |
T |
6: 5,158,248 (GRCm39) |
Q1219* |
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,873,566 (GRCm39) |
I625T |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,613,189 (GRCm39) |
T120A |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,134,288 (GRCm39) |
Y252C |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
Smc1b |
T |
A |
15: 84,980,946 (GRCm39) |
D774V |
probably damaging |
Het |
Uba6 |
C |
T |
5: 86,270,270 (GRCm39) |
R838Q |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,084,251 (GRCm39) |
S105P |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,374,729 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
G |
2: 67,345,375 (GRCm39) |
T2539A |
probably benign |
Het |
Zfpm2 |
T |
C |
15: 40,616,452 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ano7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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 |
|
Posted On |
2014-02-04 |