Incidental Mutation 'IGL01402:Ano9'
ID |
79663 |
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 # |
IGL01402
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
140681125-140697719 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to C
at 140681955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 731
(Y731*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067836]
[ENSMUST00000097958]
[ENSMUST00000209294]
[ENSMUST00000210167]
|
AlphaFold |
P86044 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067836
AA Change: Y731*
|
SMART Domains |
Protein: ENSMUSP00000067689 Gene: ENSMUSG00000054662 AA Change: Y731*
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: ENSMUST00000211515
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210927
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,638,653 (GRCm39) |
S351P |
possibly damaging |
Het |
Abca2 |
T |
C |
2: 25,332,015 (GRCm39) |
S1376P |
probably damaging |
Het |
Ablim3 |
A |
G |
18: 62,004,754 (GRCm39) |
Y12H |
probably damaging |
Het |
Akr1b7 |
A |
G |
6: 34,398,052 (GRCm39) |
R294G |
possibly damaging |
Het |
Aldh3b1 |
A |
C |
19: 3,971,205 (GRCm39) |
V153G |
probably benign |
Het |
Alk |
A |
T |
17: 72,181,173 (GRCm39) |
H1372Q |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Asl |
T |
C |
5: 130,048,645 (GRCm39) |
E43G |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,784,105 (GRCm39) |
D476G |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,645,275 (GRCm39) |
H417R |
possibly damaging |
Het |
Cpeb3 |
T |
C |
19: 37,065,948 (GRCm39) |
D407G |
probably benign |
Het |
Dcaf15 |
A |
T |
8: 84,825,026 (GRCm39) |
C469S |
probably damaging |
Het |
Dpy19l4 |
C |
A |
4: 11,273,006 (GRCm39) |
|
probably null |
Het |
E4f1 |
A |
T |
17: 24,663,208 (GRCm39) |
L699Q |
probably damaging |
Het |
Eif4g2 |
A |
G |
7: 110,676,234 (GRCm39) |
F349S |
possibly damaging |
Het |
Ermap |
T |
C |
4: 119,044,355 (GRCm39) |
Y147C |
probably damaging |
Het |
Frk |
A |
C |
10: 34,423,381 (GRCm39) |
E153A |
probably damaging |
Het |
Fubp3 |
G |
A |
2: 31,494,733 (GRCm39) |
|
probably null |
Het |
Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
Gjc3 |
A |
G |
5: 137,956,120 (GRCm39) |
F55S |
probably damaging |
Het |
Gm10762 |
C |
T |
2: 128,809,005 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,493,048 (GRCm39) |
I291T |
possibly damaging |
Het |
Gpr179 |
C |
A |
11: 97,229,012 (GRCm39) |
G1048* |
probably null |
Het |
Hectd3 |
G |
T |
4: 116,853,262 (GRCm39) |
R163L |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,477,480 (GRCm39) |
|
probably benign |
Het |
Ifnb1 |
T |
C |
4: 88,440,480 (GRCm39) |
R178G |
probably benign |
Het |
Ino80 |
T |
A |
2: 119,287,199 (GRCm39) |
D56V |
possibly damaging |
Het |
Kctd1 |
T |
A |
18: 15,102,610 (GRCm39) |
Q857L |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,367,640 (GRCm39) |
L445* |
probably null |
Het |
Lins1 |
G |
A |
7: 66,363,676 (GRCm39) |
V524I |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,430,901 (GRCm39) |
Y383N |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mgam |
A |
C |
6: 40,621,879 (GRCm39) |
K84Q |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,314,703 (GRCm39) |
F494L |
probably benign |
Het |
Mpped1 |
T |
C |
15: 83,676,414 (GRCm39) |
F60S |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,245,048 (GRCm39) |
Y382C |
probably benign |
Het |
Ncor1 |
C |
A |
11: 62,231,300 (GRCm39) |
V836F |
probably damaging |
Het |
Nktr |
G |
A |
9: 121,570,218 (GRCm39) |
|
probably null |
Het |
Or10al4 |
A |
G |
17: 38,037,193 (GRCm39) |
T93A |
probably benign |
Het |
Or4d5 |
A |
G |
9: 40,012,558 (GRCm39) |
I76T |
probably benign |
Het |
Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
Rnf144a |
T |
A |
12: 26,377,300 (GRCm39) |
Y93F |
probably benign |
Het |
Rubcn |
G |
A |
16: 32,647,666 (GRCm39) |
T636M |
probably damaging |
Het |
Scn5a |
A |
C |
9: 119,315,536 (GRCm39) |
L1724R |
probably damaging |
Het |
Sel1l |
A |
G |
12: 91,808,607 (GRCm39) |
S45P |
possibly damaging |
Het |
Serpina3k |
A |
G |
12: 104,306,882 (GRCm39) |
D38G |
probably benign |
Het |
Sh3bgr |
A |
C |
16: 96,007,690 (GRCm39) |
K18N |
probably damaging |
Het |
Slc28a2 |
T |
G |
2: 122,282,538 (GRCm39) |
I287M |
probably damaging |
Het |
St8sia6 |
T |
C |
2: 13,670,318 (GRCm39) |
N214S |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,669,523 (GRCm39) |
I123T |
probably benign |
Het |
Tcerg1l |
A |
T |
7: 137,861,568 (GRCm39) |
I387N |
probably damaging |
Het |
Tfg |
C |
A |
16: 56,514,856 (GRCm39) |
|
probably benign |
Het |
Tgm4 |
A |
G |
9: 122,880,519 (GRCm39) |
K307E |
possibly damaging |
Het |
Tmem177 |
T |
C |
1: 119,837,791 (GRCm39) |
D296G |
probably damaging |
Het |
Tmem270 |
C |
T |
5: 134,930,763 (GRCm39) |
|
probably benign |
Het |
Tnrc6b |
G |
T |
15: 80,764,745 (GRCm39) |
G749V |
possibly damaging |
Het |
Trp63 |
C |
A |
16: 25,639,135 (GRCm39) |
|
probably benign |
Het |
Ugt1a8 |
T |
C |
1: 88,015,617 (GRCm39) |
L10P |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,596,009 (GRCm39) |
K854M |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,484,467 (GRCm39) |
N446S |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,820,486 (GRCm39) |
|
probably null |
Het |
Wdr91 |
G |
A |
6: 34,865,998 (GRCm39) |
P518L |
probably benign |
Het |
Yap1 |
G |
A |
9: 7,934,742 (GRCm39) |
|
probably benign |
Het |
Zfp282 |
A |
C |
6: 47,874,770 (GRCm39) |
D325A |
probably damaging |
Het |
|
Other mutations in Ano9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-11-05 |