Incidental Mutation 'R5160:Ano9'
| ID |
396934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano9
|
| Ensembl Gene |
ENSMUSG00000054662 |
| Gene Name |
anoctamin 9 |
| Synonyms |
5430425C04Rik, Tmem16j, Trp53i5, Tp53i5 |
| MMRRC Submission |
042742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140681125-140697719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140684278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 495
(R495C)
|
| 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: R495C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: R495C
| 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: ENSMUST00000210978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210927
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
| Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
| Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
| Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
| Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
| Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
| Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
| Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
| Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
| Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
| Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
| Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
| Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
possibly 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 |
|
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 |
|
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'- TACTGGATCACTGCAGGGTG -3'
(R):5'- TCATCATGGGCCTGAAGCAAAC -3'
Sequencing Primer
(F):5'- GAAAAATCTCACTGTGTGTCCAGTCC -3'
(R):5'- GGCCTGAAGCAAACCCTGAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation