Incidental Mutation 'IGL02506:Ano9'
ID |
296358 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ano9
|
Ensembl Gene |
ENSMUSG00000054662 |
Gene Name |
anoctamin 9 |
Synonyms |
5430425C04Rik, Tmem16j, Trp53i5, Tp53i5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL02506
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
140681125-140697719 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 140682167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067836]
[ENSMUST00000097958]
[ENSMUST00000209294]
[ENSMUST00000210167]
|
AlphaFold |
P86044 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067836
|
SMART Domains |
Protein: ENSMUSP00000067689 Gene: ENSMUSG00000054662
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
174 |
730 |
3.3e-118 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097958
|
SMART Domains |
Protein: ENSMUSP00000095571 Gene: ENSMUSG00000025494
Domain | Start | End | E-Value | Type |
IG
|
17 |
112 |
5.21e-2 |
SMART |
transmembrane domain
|
117 |
139 |
N/A |
INTRINSIC |
Pfam:TIR
|
163 |
327 |
2.2e-19 |
PFAM |
Pfam:TIR_2
|
166 |
308 |
2.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157917
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209294
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210085
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210927
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211515
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210978
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,916 (GRCm39) |
E189G |
possibly damaging |
Het |
Acad11 |
T |
C |
9: 103,968,931 (GRCm39) |
|
probably null |
Het |
Adcy7 |
G |
T |
8: 89,044,571 (GRCm39) |
R488L |
probably damaging |
Het |
Akt1 |
C |
T |
12: 112,625,714 (GRCm39) |
|
probably benign |
Het |
Arhgap15 |
A |
G |
2: 43,953,820 (GRCm39) |
D182G |
possibly damaging |
Het |
Asxl3 |
T |
A |
18: 22,585,456 (GRCm39) |
V127D |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,319,955 (GRCm39) |
M1407T |
probably damaging |
Het |
Card9 |
A |
C |
2: 26,244,427 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
A |
G |
8: 104,864,454 (GRCm39) |
N472D |
probably damaging |
Het |
Ceacam2 |
T |
A |
7: 25,227,379 (GRCm39) |
T343S |
probably benign |
Het |
Cic |
T |
A |
7: 24,990,282 (GRCm39) |
C1928S |
probably benign |
Het |
Clk3 |
C |
T |
9: 57,661,927 (GRCm39) |
W31* |
probably null |
Het |
Cntn4 |
A |
G |
6: 106,595,349 (GRCm39) |
T489A |
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,826,529 (GRCm39) |
R431H |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,436,199 (GRCm39) |
|
probably benign |
Het |
Cyld |
A |
G |
8: 89,456,218 (GRCm39) |
T423A |
possibly damaging |
Het |
Cyp3a44 |
A |
T |
5: 145,736,198 (GRCm39) |
I84N |
probably damaging |
Het |
D2hgdh |
A |
G |
1: 93,757,507 (GRCm39) |
N141D |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,055,162 (GRCm39) |
L341Q |
probably damaging |
Het |
F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
Fam227b |
T |
A |
2: 125,845,831 (GRCm39) |
Y386F |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,355,640 (GRCm39) |
T694S |
unknown |
Het |
Gcnt2 |
T |
A |
13: 41,040,856 (GRCm39) |
V5E |
probably benign |
Het |
Herpud1 |
G |
T |
8: 95,121,270 (GRCm39) |
E355* |
probably null |
Het |
Igf1r |
T |
C |
7: 67,843,144 (GRCm39) |
S752P |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,649,057 (GRCm39) |
I687V |
possibly damaging |
Het |
Kdm5a |
T |
C |
6: 120,409,110 (GRCm39) |
S1598P |
probably damaging |
Het |
Klk1b9 |
A |
G |
7: 43,445,063 (GRCm39) |
E185G |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,440,217 (GRCm39) |
R423L |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,100,207 (GRCm39) |
E1609G |
probably damaging |
Het |
Nom1 |
T |
A |
5: 29,644,814 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,727,480 (GRCm39) |
I1040V |
possibly damaging |
Het |
Or8b39 |
G |
A |
9: 37,996,741 (GRCm39) |
G203D |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,748 (GRCm39) |
V246A |
probably benign |
Het |
Pfkfb4 |
A |
T |
9: 108,859,404 (GRCm39) |
D437V |
probably benign |
Het |
Phldb1 |
G |
T |
9: 44,622,223 (GRCm39) |
D797E |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,374,132 (GRCm39) |
E1399G |
probably damaging |
Het |
Plekhs1 |
G |
A |
19: 56,460,198 (GRCm39) |
C97Y |
probably damaging |
Het |
Plscr4 |
A |
T |
9: 92,372,044 (GRCm39) |
I272L |
possibly damaging |
Het |
Prlhr |
A |
C |
19: 60,456,366 (GRCm39) |
Y67D |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,984,221 (GRCm39) |
|
probably benign |
Het |
Rad23b |
T |
C |
4: 55,382,511 (GRCm39) |
V238A |
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,117,380 (GRCm39) |
T164A |
possibly damaging |
Het |
Serpinh1 |
T |
A |
7: 98,996,199 (GRCm39) |
K295M |
probably damaging |
Het |
Slc45a4 |
T |
C |
15: 73,453,687 (GRCm39) |
E770G |
probably benign |
Het |
Spag4 |
T |
C |
2: 155,911,142 (GRCm39) |
L390P |
probably damaging |
Het |
Stip1 |
A |
G |
19: 7,012,857 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,380,739 (GRCm39) |
N50S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,613,443 (GRCm39) |
V433A |
possibly damaging |
Het |
Ubap1l |
T |
A |
9: 65,276,493 (GRCm39) |
|
probably benign |
Het |
Usp40 |
A |
T |
1: 87,909,738 (GRCm39) |
I572K |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,917,308 (GRCm39) |
E3717D |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,335,232 (GRCm39) |
N1778S |
probably benign |
Het |
Ylpm1 |
T |
A |
12: 85,095,965 (GRCm39) |
F1162Y |
probably damaging |
Het |
Zbtb10 |
T |
A |
3: 9,330,297 (GRCm39) |
F552I |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,475,891 (GRCm39) |
I811V |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,195,871 (GRCm39) |
V116D |
probably benign |
Het |
|
Other mutations in Ano9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01402:Ano9
|
APN |
7 |
140,681,955 (GRCm39) |
nonsense |
probably null |
|
IGL01620:Ano9
|
APN |
7 |
140,690,352 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02045:Ano9
|
APN |
7 |
140,682,382 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02657:Ano9
|
APN |
7 |
140,687,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02731:Ano9
|
APN |
7 |
140,687,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02863:Ano9
|
APN |
7 |
140,688,564 (GRCm39) |
missense |
probably benign |
0.00 |
R0114:Ano9
|
UTSW |
7 |
140,683,152 (GRCm39) |
unclassified |
probably benign |
|
R0374:Ano9
|
UTSW |
7 |
140,687,727 (GRCm39) |
missense |
probably damaging |
0.98 |
R0487:Ano9
|
UTSW |
7 |
140,687,762 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0600:Ano9
|
UTSW |
7 |
140,684,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R0702:Ano9
|
UTSW |
7 |
140,687,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Ano9
|
UTSW |
7 |
140,687,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1679:Ano9
|
UTSW |
7 |
140,688,210 (GRCm39) |
missense |
probably benign |
0.03 |
R1773:Ano9
|
UTSW |
7 |
140,688,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1809:Ano9
|
UTSW |
7 |
140,688,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1883:Ano9
|
UTSW |
7 |
140,682,244 (GRCm39) |
missense |
probably benign |
|
R2034:Ano9
|
UTSW |
7 |
140,688,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R2159:Ano9
|
UTSW |
7 |
140,688,030 (GRCm39) |
missense |
probably benign |
0.01 |
R2254:Ano9
|
UTSW |
7 |
140,683,003 (GRCm39) |
missense |
probably benign |
|
R2293:Ano9
|
UTSW |
7 |
140,682,428 (GRCm39) |
missense |
probably benign |
|
R3177:Ano9
|
UTSW |
7 |
140,684,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R3277:Ano9
|
UTSW |
7 |
140,684,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R4274:Ano9
|
UTSW |
7 |
140,690,608 (GRCm39) |
missense |
probably benign |
|
R4576:Ano9
|
UTSW |
7 |
140,684,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Ano9
|
UTSW |
7 |
140,684,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Ano9
|
UTSW |
7 |
140,687,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R4879:Ano9
|
UTSW |
7 |
140,690,415 (GRCm39) |
missense |
probably benign |
0.23 |
R5160:Ano9
|
UTSW |
7 |
140,684,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R5560:Ano9
|
UTSW |
7 |
140,690,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R6148:Ano9
|
UTSW |
7 |
140,686,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Ano9
|
UTSW |
7 |
140,684,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R6821:Ano9
|
UTSW |
7 |
140,687,169 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7253:Ano9
|
UTSW |
7 |
140,687,350 (GRCm39) |
missense |
probably damaging |
0.96 |
R7479:Ano9
|
UTSW |
7 |
140,682,348 (GRCm39) |
missense |
probably damaging |
0.99 |
R7836:Ano9
|
UTSW |
7 |
140,683,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Ano9
|
UTSW |
7 |
140,683,989 (GRCm39) |
missense |
probably damaging |
0.96 |
R8051:Ano9
|
UTSW |
7 |
140,684,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Ano9
|
UTSW |
7 |
140,682,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8690:Ano9
|
UTSW |
7 |
140,684,220 (GRCm39) |
missense |
probably benign |
0.26 |
R9137:Ano9
|
UTSW |
7 |
140,684,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R9355:Ano9
|
UTSW |
7 |
140,681,817 (GRCm39) |
missense |
probably benign |
0.00 |
R9521:Ano9
|
UTSW |
7 |
140,682,227 (GRCm39) |
missense |
probably benign |
0.01 |
R9645:Ano9
|
UTSW |
7 |
140,687,388 (GRCm39) |
missense |
probably benign |
0.35 |
|
Posted On |
2015-04-16 |