Incidental Mutation 'R6302:Ano9'
| ID |
509280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano9
|
| Ensembl Gene |
ENSMUSG00000054662 |
| Gene Name |
anoctamin 9 |
| Synonyms |
5430425C04Rik, Tmem16j, Trp53i5, Tp53i5 |
| MMRRC Submission |
044467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140681125-140697719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140684221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 514
(W514R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067836]
[ENSMUST00000097958]
[ENSMUST00000209294]
[ENSMUST00000210167]
|
| AlphaFold |
P86044 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067836
AA Change: W514R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: W514R
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
T |
4: 144,396,760 (GRCm39) |
S324* |
probably null |
Het |
| Actl11 |
T |
G |
9: 107,806,772 (GRCm39) |
V365G |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,317,227 (GRCm39) |
D531V |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,616,728 (GRCm39) |
S2354P |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,528,589 (GRCm39) |
V266E |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,167,634 (GRCm39) |
I1345T |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,801,587 (GRCm39) |
M355I |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,554,402 (GRCm39) |
S699P |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,140,872 (GRCm39) |
I3161L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,244,604 (GRCm39) |
T1257A |
probably damaging |
Het |
| Cnnm4 |
C |
T |
1: 36,539,036 (GRCm39) |
T638I |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,646 (GRCm39) |
D1925G |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,936 (GRCm39) |
T86A |
probably damaging |
Het |
| Cyp3a63-ps |
A |
G |
5: 145,564,847 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah14 |
T |
A |
1: 181,428,771 (GRCm39) |
I259N |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,981 (GRCm39) |
D22G |
probably benign |
Het |
| Epn2 |
T |
G |
11: 61,437,312 (GRCm39) |
T87P |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,874,578 (GRCm39) |
L81P |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,323,970 (GRCm39) |
D221E |
probably damaging |
Het |
| Gm8356 |
T |
C |
14: 17,691,275 (GRCm39) |
Y130C |
probably damaging |
Het |
| Gpr151 |
T |
G |
18: 42,712,459 (GRCm39) |
K73T |
probably damaging |
Het |
| Helq |
A |
C |
5: 100,946,305 (GRCm39) |
V12G |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,806 (GRCm39) |
T74A |
probably benign |
Het |
| Kirrel3 |
G |
A |
9: 34,919,045 (GRCm39) |
V234I |
probably damaging |
Het |
| Kxd1 |
T |
A |
8: 70,972,713 (GRCm39) |
|
probably null |
Het |
| Lif |
T |
C |
11: 4,218,924 (GRCm39) |
Y68H |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,314 (GRCm39) |
Q406R |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,830,527 (GRCm39) |
M86L |
probably benign |
Het |
| Mei1 |
T |
A |
15: 81,987,439 (GRCm39) |
Y834* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,320,319 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
C |
11: 115,777,065 (GRCm39) |
I2319T |
possibly damaging |
Het |
| Myo7b |
T |
G |
18: 32,127,439 (GRCm39) |
D621A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,426,351 (GRCm39) |
D254G |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,024,921 (GRCm39) |
R560G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,464 (GRCm39) |
F265L |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,852,926 (GRCm39) |
L208H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,018,910 (GRCm39) |
T312S |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,610,097 (GRCm39) |
S390G |
probably damaging |
Het |
| Plcxd3 |
C |
T |
15: 4,546,239 (GRCm39) |
T81M |
probably damaging |
Het |
| Pmf1 |
C |
T |
3: 88,307,017 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
T |
C |
11: 70,825,947 (GRCm39) |
V739A |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,142,451 (GRCm39) |
D313G |
possibly damaging |
Het |
| Rpia |
C |
T |
6: 70,750,485 (GRCm39) |
V216I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
A |
6: 113,712,167 (GRCm39) |
H56L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,817 (GRCm39) |
V1733D |
probably damaging |
Het |
| Sim2 |
G |
A |
16: 93,898,089 (GRCm39) |
A108T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,722,479 (GRCm39) |
D665G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,383,849 (GRCm39) |
V180E |
probably damaging |
Het |
| Smarcad1 |
T |
G |
6: 65,052,122 (GRCm39) |
N38K |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,709,091 (GRCm39) |
T45A |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,057,432 (GRCm39) |
S714P |
probably benign |
Het |
| Taar7b |
T |
A |
10: 23,876,158 (GRCm39) |
S108T |
possibly damaging |
Het |
| Tbl3 |
T |
C |
17: 24,923,645 (GRCm39) |
K256E |
probably benign |
Het |
| Tcam1 |
T |
G |
11: 106,177,276 (GRCm39) |
C423G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,592,662 (GRCm39) |
C231R |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,365,397 (GRCm39) |
P337S |
probably damaging |
Het |
| Vmn2r83 |
A |
C |
10: 79,304,837 (GRCm39) |
T16P |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,182,189 (GRCm39) |
F589S |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,961 (GRCm39) |
T410A |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,742,726 (GRCm39) |
T4A |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,122,438 (GRCm39) |
L268P |
probably damaging |
Het |
| Zbtb41 |
C |
A |
1: 139,357,027 (GRCm39) |
N427K |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,771 (GRCm39) |
T414A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCGTACTGGATCACTGC -3'
(R):5'- TCATGGGCCTGAAGCAAACC -3'
Sequencing Primer
(F):5'- CAGGGTGAAAAATCTCACTGTGTGTC -3'
(R):5'- CTGAGCAACTGCGTTGAGTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation