Incidental Mutation 'R5281:Ano10'
| ID |
402783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano10
|
| Ensembl Gene |
ENSMUSG00000037949 |
| Gene Name |
anoctamin 10 |
| Synonyms |
Tmem16k |
| MMRRC Submission |
042866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122004940-122123489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122090552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 254
(S254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149772
(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: S254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: S254P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
200 |
628 |
2.2e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214283
AA Change: S254P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214409
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214507
AA Change: S62P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216081
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216670
AA Change: S254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,178,142 (GRCm39) |
H535R |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,263,115 (GRCm39) |
E45G |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,127 (GRCm39) |
E1745V |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,145,163 (GRCm39) |
L1302P |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| C2cd4c |
G |
A |
10: 79,448,878 (GRCm39) |
P90S |
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,299,696 (GRCm39) |
W255R |
probably damaging |
Het |
| Cenpe |
A |
C |
3: 134,935,911 (GRCm39) |
K449Q |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,684,349 (GRCm39) |
V615A |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,664,724 (GRCm39) |
V174A |
probably benign |
Het |
| Dst |
C |
A |
1: 34,296,863 (GRCm39) |
H5751N |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,101,080 (GRCm39) |
E562G |
probably damaging |
Het |
| Epha10 |
A |
T |
4: 124,807,781 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
C |
T |
1: 77,351,504 (GRCm39) |
G917D |
probably benign |
Het |
| Fap |
C |
T |
2: 62,363,305 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,733 (GRCm39) |
E282G |
probably benign |
Het |
| Gls |
A |
T |
1: 52,230,316 (GRCm39) |
M136K |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gusb |
T |
C |
5: 130,027,367 (GRCm39) |
T313A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,347,883 (GRCm39) |
Y752H |
possibly damaging |
Het |
| Krt17 |
G |
A |
11: 100,151,527 (GRCm39) |
Q89* |
probably null |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,467 (GRCm39) |
I209V |
probably benign |
Het |
| Nr0b2 |
A |
G |
4: 133,283,335 (GRCm39) |
I191V |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,180 (GRCm39) |
I302V |
probably benign |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,988 (GRCm39) |
M39T |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,670,073 (GRCm39) |
Y354D |
probably benign |
Het |
| She |
A |
G |
3: 89,756,888 (GRCm39) |
D314G |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,105,946 (GRCm39) |
M266T |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slfn4 |
T |
G |
11: 83,078,025 (GRCm39) |
V271G |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,805 (GRCm39) |
R634H |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,750,313 (GRCm39) |
F1555L |
probably benign |
Het |
| Vldlr |
A |
C |
19: 27,221,631 (GRCm39) |
E665D |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,664 (GRCm39) |
T633A |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,559,616 (GRCm39) |
V342A |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,243,165 (GRCm39) |
V600E |
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 |
|
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 |
|
|
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'- CTAGGTAGATGCGCAGTTGTC -3'
(R):5'- TTGGTGGCCTGTACCTTCAG -3'
Sequencing Primer
(F):5'- CTCTTGTAGCTCGAGTAGAGGG -3'
(R):5'- TCTTTCCCCTGCAGACAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation