Incidental Mutation 'IGL03216:Ano10'
| ID |
413471 |
| 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 # |
IGL03216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122004940-122123489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122086127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 491
(Y491N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042546]
[ENSMUST00000214283]
[ENSMUST00000214409]
[ENSMUST00000214507]
[ENSMUST00000216081]
[ENSMUST00000216670]
|
| AlphaFold |
Q8BH79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042546
AA Change: Y491N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: Y491N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
200 |
628 |
2.2e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214283
AA Change: Y491N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214409
AA Change: Y433N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214507
AA Change: Y299N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216081
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216670
AA Change: Y491N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,976,748 (GRCm39) |
D653E |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,467,180 (GRCm39) |
|
probably benign |
Het |
| Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
| Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
| Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
| Pnp2 |
T |
G |
14: 51,200,654 (GRCm39) |
S107A |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
| Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
| Tex55 |
T |
C |
16: 38,649,052 (GRCm39) |
D19G |
possibly damaging |
Het |
| Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,840 (GRCm39) |
D462G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
| Ubxn10 |
C |
T |
4: 138,448,050 (GRCm39) |
V209M |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
| Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
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 |
|
IGL02512:Ano10
|
APN |
9 |
122,101,540 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
2016-08-02 |
Incidental Mutation