Incidental Mutation 'R6449:Ano10'
ID |
519302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano10
|
Ensembl Gene |
ENSMUSG00000037949 |
Gene Name |
anoctamin 10 |
Synonyms |
Tmem16k |
MMRRC Submission |
044585-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R6449 (G1)
|
Quality Score |
125.008 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122004940-122123489 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 122030754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042546]
[ENSMUST00000214283]
[ENSMUST00000214409]
[ENSMUST00000214507]
[ENSMUST00000216081]
|
AlphaFold |
Q8BH79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042546
|
SMART Domains |
Protein: ENSMUSP00000045214 Gene: ENSMUSG00000037949
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
200 |
628 |
2.2e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214283
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214409
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214507
AA Change: D474G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216081
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (44/44) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
Mkks |
C |
A |
2: 136,716,206 (GRCm39) |
V565F |
probably damaging |
Het |
Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,493 (GRCm39) |
S229P |
possibly damaging |
Het |
Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,057,458 (GRCm39) |
D191G |
probably benign |
Het |
Psmd3 |
A |
G |
11: 98,576,466 (GRCm39) |
T123A |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
Ubtfl1 |
T |
A |
9: 18,320,925 (GRCm39) |
I151N |
possibly damaging |
Het |
Vmn2r70 |
A |
T |
7: 85,214,157 (GRCm39) |
F332I |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
possibly 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 |
|
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 |
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'- TTGGAATCCTGCTCACTGG -3'
(R):5'- TGGCTCTGAAGTTCATACTCGC -3'
Sequencing Primer
(F):5'- CCCAGTGCTTCTATATAAGGCATGG -3'
(R):5'- GGCTCTGAAGTTCATACTCGCATTTG -3'
|
Posted On |
2018-05-24 |