Incidental Mutation 'IGL02349:Ano7'
ID |
289420 |
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 # |
IGL02349
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93319212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 323
(T323A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058682]
[ENSMUST00000186641]
|
AlphaFold |
Q14AT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058682
AA Change: T323A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000050495 Gene: ENSMUSG00000034107 AA Change: T323A
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: ENSMUST00000186641
AA Change: T323A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000140438 Gene: ENSMUSG00000034107 AA Change: T323A
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
277 |
825 |
6.6e-150 |
PFAM |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
A |
G |
5: 24,611,462 (GRCm39) |
I484V |
probably benign |
Het |
Acly |
C |
T |
11: 100,410,505 (GRCm39) |
E158K |
probably benign |
Het |
Akap3 |
T |
A |
6: 126,837,226 (GRCm39) |
D3E |
probably benign |
Het |
Alg8 |
A |
G |
7: 97,029,101 (GRCm39) |
N152S |
possibly damaging |
Het |
Bmp1 |
T |
C |
14: 70,744,989 (GRCm39) |
Y252C |
possibly damaging |
Het |
Cacnb3 |
A |
T |
15: 98,538,842 (GRCm39) |
K159* |
probably null |
Het |
Capns2 |
T |
A |
8: 93,628,690 (GRCm39) |
V193D |
probably benign |
Het |
Cct2 |
A |
G |
10: 116,889,044 (GRCm39) |
I48T |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,436,876 (GRCm39) |
S555P |
probably damaging |
Het |
Col5a3 |
T |
C |
9: 20,683,657 (GRCm39) |
E1533G |
unknown |
Het |
Cyp17a1 |
A |
G |
19: 46,655,936 (GRCm39) |
L451P |
probably damaging |
Het |
Dgcr8 |
T |
C |
16: 18,098,170 (GRCm39) |
E407G |
possibly damaging |
Het |
Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
Fgfr2 |
A |
G |
7: 129,844,336 (GRCm39) |
Y50H |
probably damaging |
Het |
Gars1 |
T |
A |
6: 55,025,049 (GRCm39) |
|
probably benign |
Het |
Gfpt2 |
A |
T |
11: 49,698,530 (GRCm39) |
I42F |
probably benign |
Het |
Glcci1 |
A |
G |
6: 8,558,581 (GRCm39) |
K35E |
probably damaging |
Het |
Gpatch1 |
T |
A |
7: 35,006,680 (GRCm39) |
M163L |
probably damaging |
Het |
Gpr132 |
T |
C |
12: 112,816,475 (GRCm39) |
Y117C |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,754,223 (GRCm39) |
P650S |
probably damaging |
Het |
Itga2b |
T |
C |
11: 102,352,189 (GRCm39) |
D464G |
probably damaging |
Het |
Kansl2 |
C |
A |
15: 98,427,327 (GRCm39) |
G185C |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,687,661 (GRCm39) |
M570K |
probably damaging |
Het |
Macir |
A |
G |
1: 97,573,777 (GRCm39) |
L96P |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,751,506 (GRCm39) |
D615V |
possibly damaging |
Het |
Map3k7cl |
A |
G |
16: 87,352,901 (GRCm39) |
|
probably benign |
Het |
Msto1 |
A |
C |
3: 88,818,205 (GRCm39) |
S360R |
possibly damaging |
Het |
Myo15b |
C |
A |
11: 115,753,931 (GRCm39) |
|
probably benign |
Het |
Nhlrc2 |
T |
C |
19: 56,580,151 (GRCm39) |
V428A |
possibly damaging |
Het |
Or13a28 |
T |
C |
7: 140,218,384 (GRCm39) |
F257L |
probably benign |
Het |
Or1j19 |
A |
C |
2: 36,677,058 (GRCm39) |
T174P |
possibly damaging |
Het |
Or51a39 |
G |
A |
7: 102,363,333 (GRCm39) |
R96C |
probably damaging |
Het |
Or51f2 |
A |
T |
7: 102,527,116 (GRCm39) |
Y263F |
probably benign |
Het |
Or5p51 |
A |
G |
7: 107,444,812 (GRCm39) |
S43P |
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,657,502 (GRCm39) |
M24K |
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,741,192 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
A |
T |
12: 76,609,074 (GRCm39) |
N149I |
probably damaging |
Het |
Rbp3 |
C |
A |
14: 33,677,676 (GRCm39) |
H541Q |
probably damaging |
Het |
Rgp1 |
T |
C |
4: 43,581,236 (GRCm39) |
|
probably null |
Het |
Scyl2 |
A |
T |
10: 89,493,800 (GRCm39) |
|
probably benign |
Het |
Tas2r144 |
A |
C |
6: 42,193,010 (GRCm39) |
H250P |
probably benign |
Het |
Tmppe |
T |
C |
9: 114,234,268 (GRCm39) |
V189A |
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,029,555 (GRCm39) |
S1875L |
probably damaging |
Het |
Txnl4a |
T |
A |
18: 80,261,944 (GRCm39) |
L60H |
probably damaging |
Het |
Upp2 |
A |
G |
2: 58,667,898 (GRCm39) |
D217G |
probably benign |
Het |
Vmn2r74 |
A |
G |
7: 85,601,724 (GRCm39) |
L638P |
probably damaging |
Het |
Vnn1 |
A |
G |
10: 23,774,401 (GRCm39) |
N148S |
possibly damaging |
Het |
Xrcc1 |
C |
T |
7: 24,266,467 (GRCm39) |
Q241* |
probably null |
Het |
Zfp990 |
A |
G |
4: 145,257,447 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
2015-04-16 |