Incidental Mutation 'R0765:Ano9'
| ID |
72610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano9
|
| Ensembl Gene |
ENSMUSG00000054662 |
| Gene Name |
anoctamin 9 |
| Synonyms |
5430425C04Rik, Tmem16j, Trp53i5, Tp53i5 |
| MMRRC Submission |
038945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140681125-140697719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 140687097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 381
(I381L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067836]
|
| AlphaFold |
P86044 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067836
AA Change: I381L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: I381L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
174 |
730 |
3.3e-118 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211515
|
| Meta Mutation Damage Score |
0.3099 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,320,827 (GRCm39) |
V425D |
probably benign |
Het |
| Apob |
C |
T |
12: 8,066,518 (GRCm39) |
L4496F |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,822,344 (GRCm39) |
E724K |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,214,070 (GRCm39) |
|
probably null |
Het |
| Baiap2l1 |
G |
T |
5: 144,214,513 (GRCm39) |
P394T |
probably damaging |
Het |
| Btbd8 |
T |
A |
5: 107,654,800 (GRCm39) |
D354E |
probably benign |
Het |
| Cnbp |
C |
A |
6: 87,822,155 (GRCm39) |
C122F |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,375,811 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
G |
14: 31,247,994 (GRCm39) |
D408A |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,917,824 (GRCm39) |
S259T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,220 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
C |
A |
13: 55,630,107 (GRCm39) |
V112F |
probably damaging |
Het |
| Dcc |
T |
A |
18: 71,496,061 (GRCm39) |
D1028V |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,681,318 (GRCm39) |
V32A |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,587,703 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
C |
T |
7: 27,885,136 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,759,987 (GRCm39) |
M208K |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,048,876 (GRCm39) |
I430V |
probably benign |
Het |
| Elovl2 |
T |
C |
13: 41,340,942 (GRCm39) |
Y181C |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,700,655 (GRCm39) |
Q225R |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,080,004 (GRCm39) |
R332Q |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,886,429 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,684,538 (GRCm39) |
T344M |
probably damaging |
Het |
| Il1rap |
T |
G |
16: 26,529,382 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,356,055 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,339,814 (GRCm39) |
K289N |
probably damaging |
Het |
| Lgr6 |
C |
A |
1: 134,921,624 (GRCm39) |
G240V |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,705,547 (GRCm39) |
D246Y |
probably damaging |
Het |
| Map3k20 |
G |
A |
2: 72,202,269 (GRCm39) |
V167I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,776,608 (GRCm39) |
S347P |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,125,234 (GRCm39) |
V254A |
possibly damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,408,073 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
A |
T |
1: 169,350,505 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,027,184 (GRCm39) |
Y189H |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,846,014 (GRCm39) |
V247I |
probably benign |
Het |
| Or51t4 |
C |
T |
7: 102,597,939 (GRCm39) |
T79I |
probably damaging |
Het |
| Or5m13 |
T |
C |
2: 85,749,049 (GRCm39) |
L260P |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,348,648 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
T |
C |
1: 106,320,013 (GRCm39) |
L1336P |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,818,734 (GRCm39) |
T9A |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,313,921 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
T |
7: 46,349,071 (GRCm39) |
V281E |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,030,879 (GRCm39) |
Q186* |
probably null |
Het |
| Slc6a2 |
A |
G |
8: 93,715,659 (GRCm39) |
T266A |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,623,507 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,446,706 (GRCm39) |
P365S |
possibly damaging |
Het |
| Tmem127 |
C |
A |
2: 127,099,069 (GRCm39) |
T201K |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,862,195 (GRCm39) |
V409G |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,723,969 (GRCm39) |
T165I |
probably benign |
Het |
| Ush2a |
C |
A |
1: 188,680,771 (GRCm39) |
F4916L |
possibly damaging |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,467 (GRCm39) |
M68V |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,119 (GRCm39) |
D235G |
probably damaging |
Het |
| Vmn2r-ps134 |
C |
T |
17: 23,665,015 (GRCm39) |
|
noncoding transcript |
Het |
| Zdbf2 |
G |
A |
1: 63,344,882 (GRCm39) |
S1087N |
possibly damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,693 (GRCm39) |
P659S |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCATGTTTGATCACAGCCC -3'
(R):5'- TGAGCAGCACCATCATCCTGATCC -3'
Sequencing Primer
(F):5'- ATGTTTGATCACAGCCCTGTAAC -3'
(R):5'- TATGGGCTAGAGACCCAGTTATCC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation