Incidental Mutation 'IGL00932:Ano10'
| ID |
28178 |
| 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 # |
IGL00932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122004940-122123489 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 122080297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 571
(C571*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042546]
[ENSMUST00000214283]
[ENSMUST00000214409]
[ENSMUST00000214507]
[ENSMUST00000216081]
[ENSMUST00000216670]
|
| AlphaFold |
Q8BH79 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042546
AA Change: C571*
|
| SMART Domains |
Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: C571*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
200 |
628 |
2.2e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214283
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214409
AA Change: C513*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214507
AA Change: C379*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216081
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216670
AA Change: C571*
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
T |
C |
8: 22,501,114 (GRCm39) |
I930V |
possibly damaging |
Het |
| Azin2 |
A |
T |
4: 128,844,459 (GRCm39) |
V48E |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Clec4a1 |
G |
A |
6: 122,907,654 (GRCm39) |
C114Y |
probably damaging |
Het |
| Cybc1 |
A |
G |
11: 121,119,156 (GRCm39) |
V28A |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Huwe1 |
T |
C |
X: 150,643,157 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,348,825 (GRCm39) |
V571E |
possibly damaging |
Het |
| Lats1 |
T |
C |
10: 7,588,506 (GRCm39) |
V1041A |
possibly damaging |
Het |
| Mthfd1l |
A |
T |
10: 3,989,971 (GRCm38) |
|
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,310 (GRCm39) |
L226* |
probably null |
Het |
| Ptbp3 |
A |
G |
4: 59,477,228 (GRCm39) |
S487P |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 92,002,265 (GRCm39) |
F448S |
probably benign |
Het |
| Rpl7a |
T |
C |
2: 26,801,067 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
C |
3: 72,848,289 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
G |
T |
2: 29,905,622 (GRCm39) |
A1579S |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,142,759 (GRCm39) |
H29L |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 85,976,681 (GRCm39) |
N811Y |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,734 (GRCm39) |
M588L |
probably benign |
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 |
|
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 |
|
IGL02512:Ano10
|
APN |
9 |
122,101,540 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
2013-04-17 |
Incidental Mutation