Incidental Mutation 'IGL02045:Ano9'
| ID |
184897 |
| 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: 0.063)
|
| Stock # |
IGL02045
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140681125-140697719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140682382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 655
(N655K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067836]
[ENSMUST00000097958]
[ENSMUST00000209294]
[ENSMUST00000210167]
|
| AlphaFold |
P86044 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067836
AA Change: N655K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: N655K
| 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: ENSMUST00000210763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210927
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
A |
5: 114,378,721 (GRCm39) |
H2044Q |
possibly damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,244 (GRCm39) |
S730T |
probably benign |
Het |
| Ap1ar |
A |
T |
3: 127,609,298 (GRCm39) |
Y108N |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,954,752 (GRCm39) |
I55V |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,770,094 (GRCm39) |
T145A |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,158,442 (GRCm39) |
|
probably null |
Het |
| Ces2e |
C |
T |
8: 105,657,290 (GRCm39) |
|
probably benign |
Het |
| Cflar |
T |
C |
1: 58,791,903 (GRCm39) |
I405T |
probably benign |
Het |
| Cibar2 |
T |
A |
8: 120,896,461 (GRCm39) |
K174* |
probably null |
Het |
| Cyp51 |
A |
G |
5: 4,133,247 (GRCm39) |
S464P |
probably damaging |
Het |
| Ermard |
G |
A |
17: 15,271,826 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,707,841 (GRCm39) |
T49A |
probably benign |
Het |
| Gls |
A |
G |
1: 52,258,674 (GRCm39) |
V198A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,115,855 (GRCm39) |
I867N |
probably damaging |
Het |
| Ighv1-14 |
A |
T |
12: 114,610,334 (GRCm39) |
|
noncoding transcript |
Het |
| Iqsec1 |
T |
C |
6: 90,641,051 (GRCm39) |
K1022E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,574 (GRCm39) |
T299A |
probably benign |
Het |
| Nr2e3 |
A |
T |
9: 59,856,291 (GRCm39) |
M82K |
probably benign |
Het |
| Ntpcr |
A |
G |
8: 126,472,191 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
A |
G |
11: 73,480,058 (GRCm39) |
C169R |
probably damaging |
Het |
| Or4d10b |
T |
C |
19: 12,036,253 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or52s6 |
A |
G |
7: 103,092,159 (GRCm39) |
L57P |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,739 (GRCm39) |
D180G |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,091 (GRCm39) |
D178E |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,390 (GRCm39) |
D506G |
probably damaging |
Het |
| Rasgef1a |
A |
G |
6: 118,066,404 (GRCm39) |
I470V |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,452,978 (GRCm39) |
E514G |
possibly damaging |
Het |
| Rgs22 |
G |
A |
15: 36,013,300 (GRCm39) |
A1048V |
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,617,498 (GRCm39) |
F60L |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,155,429 (GRCm39) |
S505G |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,727 (GRCm39) |
V257E |
possibly damaging |
Het |
| Smad9 |
A |
G |
3: 54,693,593 (GRCm39) |
N174S |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,462,914 (GRCm39) |
N635D |
probably benign |
Het |
| Stradb |
T |
A |
1: 59,028,937 (GRCm39) |
I135N |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,497,762 (GRCm39) |
T407A |
probably damaging |
Het |
| Tmc8 |
T |
A |
11: 117,677,346 (GRCm39) |
I322N |
probably damaging |
Het |
| Tnip1 |
A |
C |
11: 54,802,365 (GRCm39) |
*648G |
probably null |
Het |
| Ttc3 |
T |
C |
16: 94,210,540 (GRCm39) |
|
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 |
|
IGL02506:Ano9
|
APN |
7 |
140,682,167 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation