Incidental Mutation 'R4151:Ano10'
ID |
314910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano10
|
Ensembl Gene |
ENSMUSG00000037949 |
Gene Name |
anoctamin 10 |
Synonyms |
Tmem16k |
MMRRC Submission |
040861-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R4151 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122004940-122123489 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 122090601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 237
(W237*)
|
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: W237*
|
SMART Domains |
Protein: ENSMUSP00000045214 Gene: ENSMUSG00000037949 AA Change: W237*
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
200 |
628 |
2.2e-115 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000214283
AA Change: W237*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214409
|
Predicted Effect |
probably null
Transcript: ENSMUST00000214507
AA Change: W45*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216081
|
Predicted Effect |
probably null
Transcript: ENSMUST00000216670
AA Change: W237*
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc9 |
C |
T |
1: 86,092,497 (GRCm39) |
T87M |
probably damaging |
Het |
Astn2 |
C |
T |
4: 65,647,557 (GRCm39) |
|
probably null |
Het |
Atxn7l1 |
G |
A |
12: 33,414,481 (GRCm39) |
V506M |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,920,914 (GRCm39) |
N36D |
probably benign |
Het |
Cfap45 |
T |
A |
1: 172,359,788 (GRCm39) |
I96N |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,745,134 (GRCm39) |
V66D |
probably damaging |
Het |
Dnajb6 |
C |
G |
5: 29,961,234 (GRCm39) |
L118V |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,309,485 (GRCm39) |
S44P |
possibly damaging |
Het |
Dync2li1 |
A |
G |
17: 84,935,763 (GRCm39) |
H20R |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,836,254 (GRCm39) |
S695R |
possibly damaging |
Het |
Eif3g |
T |
C |
9: 20,806,429 (GRCm39) |
D220G |
probably benign |
Het |
Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
Gata2 |
T |
A |
6: 88,176,620 (GRCm39) |
H26Q |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,834,056 (GRCm39) |
I434T |
probably damaging |
Het |
Gm5145 |
A |
G |
17: 20,791,360 (GRCm39) |
E246G |
probably damaging |
Het |
Ints10 |
T |
A |
8: 69,247,250 (GRCm39) |
|
probably null |
Het |
Kdr |
G |
T |
5: 76,117,761 (GRCm39) |
A664E |
possibly damaging |
Het |
Klhl1 |
A |
C |
14: 96,755,752 (GRCm39) |
M1R |
probably null |
Het |
Lama4 |
T |
A |
10: 38,881,424 (GRCm39) |
F71Y |
probably benign |
Het |
Madd |
C |
A |
2: 90,973,428 (GRCm39) |
R1410L |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,432,290 (GRCm39) |
S2P |
probably damaging |
Het |
Map4k3 |
T |
C |
17: 80,951,963 (GRCm39) |
K228R |
probably damaging |
Het |
Mrpl43 |
A |
G |
19: 44,994,175 (GRCm39) |
L148P |
possibly damaging |
Het |
Msi2 |
G |
C |
11: 88,608,870 (GRCm39) |
S16C |
probably damaging |
Het |
Myo1e |
G |
T |
9: 70,204,633 (GRCm39) |
G78* |
probably null |
Het |
Notch2 |
T |
C |
3: 98,054,387 (GRCm39) |
L2350S |
possibly damaging |
Het |
Nptn |
G |
T |
9: 58,550,825 (GRCm39) |
S168I |
probably benign |
Het |
Nsmce2 |
A |
G |
15: 59,473,214 (GRCm39) |
T244A |
probably benign |
Het |
Or5aq6 |
C |
T |
2: 86,923,514 (GRCm39) |
V76I |
probably benign |
Het |
Ostn |
T |
A |
16: 27,140,152 (GRCm39) |
S22T |
probably benign |
Het |
Plekhb2 |
T |
G |
1: 34,903,564 (GRCm39) |
F102V |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,634,637 (GRCm39) |
D3594G |
probably benign |
Het |
Psmd6 |
G |
C |
14: 14,120,157 (GRCm38) |
L61V |
probably benign |
Het |
Rbm33 |
C |
T |
5: 28,592,938 (GRCm39) |
P573S |
probably damaging |
Het |
Rfk |
A |
C |
19: 17,372,672 (GRCm39) |
I65L |
probably benign |
Het |
Rnf141 |
A |
T |
7: 110,436,406 (GRCm39) |
D7E |
probably benign |
Het |
Shank2 |
A |
T |
7: 143,608,565 (GRCm39) |
K153M |
probably damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,359 (GRCm39) |
I31F |
probably benign |
Het |
Slco3a1 |
G |
T |
7: 74,009,586 (GRCm39) |
A243E |
probably damaging |
Het |
Stab2 |
G |
A |
10: 86,838,847 (GRCm39) |
T73I |
probably benign |
Het |
Sufu |
G |
A |
19: 46,438,411 (GRCm39) |
|
probably null |
Het |
Sync |
C |
T |
4: 129,187,519 (GRCm39) |
Q184* |
probably null |
Het |
Tnfrsf25 |
G |
T |
4: 152,204,258 (GRCm39) |
A376S |
probably damaging |
Het |
Tnpo1 |
A |
T |
13: 98,989,407 (GRCm39) |
I765N |
probably damaging |
Het |
Ube2d2b |
A |
T |
5: 107,978,747 (GRCm39) |
K133* |
probably null |
Het |
Ulk3 |
C |
T |
9: 57,499,650 (GRCm39) |
S217L |
possibly damaging |
Het |
Upf2 |
C |
A |
2: 5,966,516 (GRCm39) |
Q379K |
unknown |
Het |
Vegfc |
T |
A |
8: 54,530,824 (GRCm39) |
L4Q |
unknown |
Het |
Vmn2r104 |
A |
T |
17: 20,250,147 (GRCm39) |
I708N |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGCAGTTGTCTCTTGTAGC -3'
(R):5'- CACACATCTGCTTATGCTGTG -3'
Sequencing Primer
(F):5'- CCCGTGACTGAATTGATGCCAAG -3'
(R):5'- CACACATCTGCTTATGCTGTGGTAAG -3'
|
Posted On |
2015-05-14 |