Incidental Mutation 'R1156:Ano7'
| ID |
101706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano7
|
| Ensembl Gene |
ENSMUSG00000034107 |
| Gene Name |
anoctamin 7 |
| Synonyms |
NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5 |
| MMRRC Submission |
039229-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1156 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93301652-93332025 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 93329574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058682]
[ENSMUST00000170883]
[ENSMUST00000186641]
|
| AlphaFold |
Q14AT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058682
AA Change: T748K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: T748K
| 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 damaging
Transcript: ENSMUST00000186641
AA Change: T748K
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: T748K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
277 |
825 |
6.6e-150 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190340
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190340
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.2%
- 10x: 94.8%
- 20x: 86.8%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
C |
1: 38,243,991 (GRCm39) |
T927A |
probably benign |
Het |
| Ankrd13b |
G |
T |
11: 77,363,687 (GRCm39) |
H425Q |
probably damaging |
Het |
| Cachd1 |
T |
C |
4: 100,845,816 (GRCm39) |
L1000P |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,725,703 (GRCm39) |
D719G |
probably damaging |
Het |
| Ehbp1l1 |
G |
T |
19: 5,758,364 (GRCm39) |
|
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,911,494 (GRCm39) |
T326A |
probably damaging |
Het |
| Exoc6 |
T |
A |
19: 37,671,345 (GRCm39) |
N778K |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,492,927 (GRCm39) |
R3883H |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,356,593 (GRCm39) |
V344D |
probably damaging |
Het |
| Khdrbs2 |
C |
A |
1: 32,506,956 (GRCm39) |
T200K |
probably benign |
Het |
| Mtap |
A |
T |
4: 89,089,459 (GRCm39) |
T148S |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,582,617 (GRCm39) |
V615A |
probably benign |
Het |
| Nudt9 |
G |
A |
5: 104,198,596 (GRCm39) |
W37* |
probably null |
Het |
| Obp2a |
A |
G |
2: 25,591,604 (GRCm39) |
K108R |
possibly damaging |
Het |
| Or14j3 |
T |
A |
17: 37,900,408 (GRCm39) |
T279S |
possibly damaging |
Het |
| Sec23a |
A |
T |
12: 59,048,622 (GRCm39) |
S167T |
probably benign |
Het |
| Strn |
A |
G |
17: 78,964,360 (GRCm39) |
I535T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,804,747 (GRCm39) |
T206M |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,614,451 (GRCm39) |
C1111R |
probably damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,710 (GRCm39) |
H1128Q |
possibly damaging |
Het |
| Zup1 |
T |
C |
10: 33,825,222 (GRCm39) |
T87A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation