Incidental Mutation 'IGL00091:Ano7'
| ID |
1967 |
| 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 # |
IGL00091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93329888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 775
(H775L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058682]
[ENSMUST00000170883]
[ENSMUST00000186641]
|
| AlphaFold |
Q14AT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058682
AA Change: H775L
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: H775L
| 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 |
probably benign
Transcript: ENSMUST00000186641
AA Change: H775L
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: H775L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
277 |
825 |
6.6e-150 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000190340
AA Change: H24L
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,485,157 (GRCm39) |
Y400F |
probably benign |
Het |
| Adamts8 |
C |
A |
9: 30,864,796 (GRCm39) |
T429K |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
| Apoo-ps |
A |
T |
13: 107,551,134 (GRCm39) |
|
noncoding transcript |
Het |
| Arid2 |
T |
C |
15: 96,270,183 (GRCm39) |
V1432A |
probably benign |
Het |
| Atoh1 |
T |
C |
6: 64,706,568 (GRCm39) |
S88P |
possibly damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,601 (GRCm39) |
E218G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,417,942 (GRCm39) |
F155L |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Cyp1a2 |
G |
T |
9: 57,589,352 (GRCm39) |
S154* |
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
| Dmbt1 |
C |
A |
7: 130,681,270 (GRCm39) |
|
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,059 (GRCm39) |
F81L |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,839,468 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,576,559 (GRCm39) |
|
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,951,650 (GRCm39) |
S537P |
possibly damaging |
Het |
| Gmds |
G |
A |
13: 32,418,373 (GRCm39) |
S37L |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,760,602 (GRCm39) |
E626G |
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,684 (GRCm39) |
H160R |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,713,349 (GRCm39) |
T1608A |
probably benign |
Het |
| Lama4 |
A |
C |
10: 38,948,801 (GRCm39) |
S855R |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,532,333 (GRCm39) |
H454Y |
probably damaging |
Het |
| Map3k14 |
C |
A |
11: 103,118,405 (GRCm39) |
G594C |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,682,636 (GRCm39) |
N591S |
possibly damaging |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Mptx2 |
T |
G |
1: 173,102,455 (GRCm39) |
N78T |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Nup50 |
T |
A |
15: 84,819,605 (GRCm39) |
F293Y |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,774,514 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pdia3 |
T |
C |
2: 121,244,659 (GRCm39) |
L47P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,614,393 (GRCm39) |
D786E |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 57,009,168 (GRCm39) |
L222P |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,972 (GRCm39) |
Y282N |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,156,549 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spire2 |
A |
G |
8: 124,080,798 (GRCm39) |
D14G |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,705,070 (GRCm39) |
|
probably null |
Het |
| Timeless |
T |
C |
10: 128,077,577 (GRCm39) |
L219P |
probably damaging |
Het |
| Tmem63a |
C |
T |
1: 180,790,653 (GRCm39) |
T437M |
probably damaging |
Het |
| Tslp |
A |
G |
18: 32,948,448 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,579,314 (GRCm39) |
G534* |
probably null |
Het |
| Uggt1 |
T |
C |
1: 36,218,633 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,708 (GRCm39) |
E732G |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,304,022 (GRCm39) |
P1321S |
possibly damaging |
Het |
| Zfp58 |
A |
G |
13: 67,639,114 (GRCm39) |
V459A |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,487,451 (GRCm39) |
S709P |
possibly damaging |
Het |
|
| Other mutations in Ano7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation