Incidental Mutation 'IGL02512:Ano10'
| ID |
296586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ano10
|
| Ensembl Gene |
ENSMUSG00000037949 |
| Gene Name |
anoctamin 10 |
| Synonyms |
Tmem16k |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02512
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122004940-122123489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 122101540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 77
(V77G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042546]
[ENSMUST00000214283]
[ENSMUST00000214409]
[ENSMUST00000216081]
[ENSMUST00000216670]
|
| AlphaFold |
Q8BH79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042546
AA Change: V77G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: V77G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
200 |
628 |
2.2e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184520
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214283
AA Change: V77G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214409
AA Change: V77G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216081
AA Change: V77G
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216670
AA Change: V77G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217606
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to inhibit anion conductance. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit calcium-activated chloride ion secretion in the jejunum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
C |
A |
15: 90,111,752 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,924,827 (GRCm39) |
M104K |
probably benign |
Het |
| Ankrd37 |
A |
G |
8: 46,452,325 (GRCm39) |
L48P |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,169,222 (GRCm39) |
L43M |
probably damaging |
Het |
| Arg2 |
G |
A |
12: 79,194,517 (GRCm39) |
V114I |
probably benign |
Het |
| Asah1 |
A |
C |
8: 41,813,344 (GRCm39) |
|
probably benign |
Het |
| Clpx |
A |
C |
9: 65,217,533 (GRCm39) |
I34L |
probably benign |
Het |
| Cnga2 |
G |
A |
X: 71,052,531 (GRCm39) |
V469I |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,856,950 (GRCm39) |
|
probably benign |
Het |
| Eaf1 |
A |
G |
14: 31,219,743 (GRCm39) |
T61A |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,017,115 (GRCm39) |
D624V |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,547,904 (GRCm39) |
D927G |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,180,380 (GRCm39) |
Y1801N |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,921,150 (GRCm39) |
Y292H |
probably damaging |
Het |
| Gpr174 |
A |
T |
X: 106,336,577 (GRCm39) |
K130* |
probably null |
Het |
| Greb1 |
C |
T |
12: 16,742,713 (GRCm39) |
V1379I |
possibly damaging |
Het |
| Grik2 |
A |
T |
10: 49,232,008 (GRCm39) |
D507E |
probably benign |
Het |
| Gsn |
A |
T |
2: 35,173,962 (GRCm39) |
K24* |
probably null |
Het |
| Ift80 |
A |
G |
3: 68,835,058 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
T |
A |
11: 3,449,661 (GRCm39) |
Y707F |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,187,689 (GRCm39) |
F717L |
possibly damaging |
Het |
| Klhdc8a |
T |
C |
1: 132,230,895 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
G |
A |
8: 45,729,277 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,160 (GRCm39) |
V305A |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,199,801 (GRCm39) |
|
probably null |
Het |
| Nampt |
T |
A |
12: 32,880,268 (GRCm39) |
Y54N |
possibly damaging |
Het |
| Neurog2 |
G |
T |
3: 127,427,504 (GRCm39) |
E43* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,919,343 (GRCm39) |
R6887H |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,402 (GRCm39) |
I190M |
possibly damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,182,171 (GRCm39) |
N137D |
possibly damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,119 (GRCm39) |
I257T |
possibly damaging |
Het |
| Pdss1 |
A |
G |
2: 22,802,658 (GRCm39) |
I166V |
probably damaging |
Het |
| Phaf1 |
G |
A |
8: 105,961,110 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,645,651 (GRCm39) |
T1096A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,245,425 (GRCm39) |
Y728H |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,555,052 (GRCm39) |
D56G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,386 (GRCm39) |
V683E |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,864,478 (GRCm39) |
D358G |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,851 (GRCm39) |
S241T |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,957,735 (GRCm39) |
P346S |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,215 (GRCm39) |
S324T |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,389,123 (GRCm39) |
Y168H |
probably damaging |
Het |
| St3gal6 |
C |
T |
16: 58,293,822 (GRCm39) |
E236K |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,175,069 (GRCm39) |
M1426K |
probably benign |
Het |
| Tinag |
A |
T |
9: 76,939,069 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,993,415 (GRCm39) |
S53P |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,188,431 (GRCm39) |
T543A |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,764,448 (GRCm39) |
W2147R |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,942,465 (GRCm39) |
C641Y |
probably damaging |
Het |
|
| Other mutations in Ano10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00545:Ano10
|
APN |
9 |
122,090,422 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL00886:Ano10
|
APN |
9 |
122,100,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00932:Ano10
|
APN |
9 |
122,080,297 (GRCm39) |
nonsense |
probably null |
|
|
IGL01613:Ano10
|
APN |
9 |
122,088,606 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02109:Ano10
|
APN |
9 |
122,090,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Ano10
|
APN |
9 |
122,090,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03216:Ano10
|
APN |
9 |
122,086,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
arna
|
UTSW |
9 |
122,088,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0624:Ano10
|
UTSW |
9 |
122,088,661 (GRCm39) |
splice site |
probably benign |
|
|
R1669:Ano10
|
UTSW |
9 |
122,086,249 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1801:Ano10
|
UTSW |
9 |
122,082,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Ano10
|
UTSW |
9 |
122,088,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Ano10
|
UTSW |
9 |
122,092,829 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4027:Ano10
|
UTSW |
9 |
122,081,994 (GRCm39) |
splice site |
probably benign |
|
|
R4151:Ano10
|
UTSW |
9 |
122,090,601 (GRCm39) |
nonsense |
probably null |
|
|
R4590:Ano10
|
UTSW |
9 |
122,086,231 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4651:Ano10
|
UTSW |
9 |
122,090,181 (GRCm39) |
nonsense |
probably null |
|
|
R4652:Ano10
|
UTSW |
9 |
122,090,181 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Ano10
|
UTSW |
9 |
122,092,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5026:Ano10
|
UTSW |
9 |
122,101,625 (GRCm39) |
nonsense |
probably null |
|
|
R5281:Ano10
|
UTSW |
9 |
122,090,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Ano10
|
UTSW |
9 |
122,090,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Ano10
|
UTSW |
9 |
122,090,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6449:Ano10
|
UTSW |
9 |
122,030,754 (GRCm39) |
intron |
probably benign |
|
|
R6702:Ano10
|
UTSW |
9 |
122,088,630 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7010:Ano10
|
UTSW |
9 |
122,082,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Ano10
|
UTSW |
9 |
122,005,409 (GRCm39) |
missense |
unknown |
|
|
R7584:Ano10
|
UTSW |
9 |
122,104,597 (GRCm39) |
missense |
probably benign |
|
|
R8849:Ano10
|
UTSW |
9 |
122,090,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8980:Ano10
|
UTSW |
9 |
122,090,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Ano10
|
UTSW |
9 |
122,090,168 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9653:Ano10
|
UTSW |
9 |
122,080,221 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation