Incidental Mutation 'IGL00838:Ano7'
| ID |
8966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ano7
|
| Ensembl Gene |
ENSMUSG00000034107 |
| Gene Name |
anoctamin 7 |
| Synonyms |
Tmem16g, NGEP-L, IPCA-5, NGEP, Pcanap5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93373930-93404303 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93402757 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 834
(N834K)
|
| 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: N834K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: N834K
| 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: N834K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: N834K
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc10 |
T |
A |
5: 21,661,581 |
V281E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,352 |
M244K |
probably damaging |
Het |
| Cryz |
T |
A |
3: 154,618,475 |
C166S |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,201,303 |
K1649N |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 149,005,363 |
|
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,175,459 |
R1630* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,897,558 |
N122S |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,911,359 |
G35C |
possibly damaging |
Het |
| Klrb1f |
G |
A |
6: 129,054,316 |
V159I |
possibly damaging |
Het |
| Mgl2 |
A |
T |
11: 70,134,212 |
M14L |
probably benign |
Het |
| Mob1a |
C |
T |
6: 83,338,331 |
R78C |
possibly damaging |
Het |
| Pigo |
C |
T |
4: 43,021,767 |
A392T |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,475,863 |
N436K |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,588,693 |
T57A |
possibly damaging |
Het |
| Ror1 |
T |
G |
4: 100,333,743 |
V99G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,568,503 |
I4755N |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,989,173 |
D394G |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,410,390 |
I1318V |
possibly damaging |
Het |
| Syt6 |
T |
A |
3: 103,625,626 |
M357K |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 100,972,118 |
I328N |
possibly damaging |
Het |
| Ttc37 |
T |
C |
13: 76,134,791 |
L744P |
probably damaging |
Het |
| Vnn1 |
T |
C |
10: 23,900,779 |
F343L |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,155,129 |
E519V |
probably damaging |
Het |
|
| Other mutations in Ano7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Ano7
|
APN |
1 |
93402166 |
missense |
probably benign |
0.04 |
|
IGL01295:Ano7
|
APN |
1 |
93380478 |
missense |
probably benign |
0.00 |
|
IGL01322:Ano7
|
APN |
1 |
93395508 |
missense |
probably benign |
0.08 |
|
IGL01807:Ano7
|
APN |
1 |
93402696 |
missense |
possibly damaging |
0.66 |
|
IGL01859:Ano7
|
APN |
1 |
93394446 |
missense |
probably damaging |
1.00 |
|
IGL02349:Ano7
|
APN |
1 |
93391490 |
missense |
probably benign |
0.02 |
|
IGL02976:Ano7
|
APN |
1 |
93402673 |
missense |
possibly damaging |
0.78 |
|
R0360:Ano7
|
UTSW |
1 |
93388658 |
missense |
probably benign |
0.01 |
|
R0364:Ano7
|
UTSW |
1 |
93388658 |
missense |
probably benign |
0.01 |
|
R0528:Ano7
|
UTSW |
1 |
93395502 |
missense |
probably null |
1.00 |
|
R0741:Ano7
|
UTSW |
1 |
93401587 |
missense |
probably damaging |
0.97 |
|
R1131:Ano7
|
UTSW |
1 |
93401776 |
missense |
probably benign |
0.24 |
|
R1156:Ano7
|
UTSW |
1 |
93401852 |
splice site |
probably null |
|
|
R1500:Ano7
|
UTSW |
1 |
93397328 |
missense |
probably damaging |
1.00 |
|
R1710:Ano7
|
UTSW |
1 |
93385624 |
missense |
probably benign |
0.00 |
|
R2002:Ano7
|
UTSW |
1 |
93400581 |
unclassified |
probably benign |
|
|
R2062:Ano7
|
UTSW |
1 |
93390313 |
missense |
probably benign |
|
|
R2120:Ano7
|
UTSW |
1 |
93402133 |
splice site |
probably benign |
|
|
R2200:Ano7
|
UTSW |
1 |
93380436 |
missense |
possibly damaging |
0.93 |
|
R2268:Ano7
|
UTSW |
1 |
93380439 |
missense |
possibly damaging |
0.51 |
|
R2763:Ano7
|
UTSW |
1 |
93399186 |
splice site |
probably null |
|
|
R4202:Ano7
|
UTSW |
1 |
93380478 |
missense |
probably benign |
0.00 |
|
R4204:Ano7
|
UTSW |
1 |
93380478 |
missense |
probably benign |
0.00 |
|
R4205:Ano7
|
UTSW |
1 |
93380478 |
missense |
probably benign |
0.00 |
|
R4453:Ano7
|
UTSW |
1 |
93394353 |
missense |
probably damaging |
1.00 |
|
R4627:Ano7
|
UTSW |
1 |
93375185 |
missense |
probably benign |
0.15 |
|
R4735:Ano7
|
UTSW |
1 |
93400494 |
missense |
probably benign |
|
|
R4809:Ano7
|
UTSW |
1 |
93394566 |
missense |
probably benign |
0.20 |
|
R4935:Ano7
|
UTSW |
1 |
93395314 |
missense |
possibly damaging |
0.48 |
|
R4970:Ano7
|
UTSW |
1 |
93397363 |
missense |
possibly damaging |
0.77 |
|
R5112:Ano7
|
UTSW |
1 |
93397363 |
missense |
possibly damaging |
0.77 |
|
R5249:Ano7
|
UTSW |
1 |
93375196 |
missense |
probably benign |
|
|
R5813:Ano7
|
UTSW |
1 |
93384919 |
critical splice donor site |
probably null |
|
|
R6181:Ano7
|
UTSW |
1 |
93395359 |
missense |
probably damaging |
1.00 |
|
R7106:Ano7
|
UTSW |
1 |
93374983 |
splice site |
probably null |
|
|
R7113:Ano7
|
UTSW |
1 |
93385620 |
missense |
probably benign |
0.10 |
|
R7199:Ano7
|
UTSW |
1 |
93402978 |
missense |
|
|
|
R7218:Ano7
|
UTSW |
1 |
93380469 |
missense |
probably benign |
0.01 |
|
R7381:Ano7
|
UTSW |
1 |
93395335 |
missense |
probably benign |
|
|
R7722:Ano7
|
UTSW |
1 |
93390423 |
missense |
probably damaging |
0.99 |
|
R7832:Ano7
|
UTSW |
1 |
93394473 |
missense |
probably benign |
0.06 |
|
R8700:Ano7
|
UTSW |
1 |
93388607 |
missense |
probably damaging |
1.00 |
|
R9729:Ano7
|
UTSW |
1 |
93394458 |
missense |
probably damaging |
1.00 |
|
Z1176:Ano7
|
UTSW |
1 |
93394465 |
missense |
probably benign |
0.26 |
|
Z1177:Ano7
|
UTSW |
1 |
93401527 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation