Incidental Mutation 'R1028:Ano8'
ID |
95048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano8
|
Ensembl Gene |
ENSMUSG00000034863 |
Gene Name |
anoctamin 8 |
Synonyms |
Tmem16h |
MMRRC Submission |
039130-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1028 (G1)
|
Quality Score |
104 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
GCCTCCTCCTCCTCCTC to GCCTCCTCCTCCTC
at 71933615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093450]
[ENSMUST00000124745]
[ENSMUST00000138892]
[ENSMUST00000213382]
[ENSMUST00000147642]
|
AlphaFold |
Q6PB70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093450
|
SMART Domains |
Protein: ENSMUSP00000091157 Gene: ENSMUSG00000034863
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
Pfam:Anoctamin
|
237 |
874 |
3e-149 |
PFAM |
coiled coil region
|
881 |
919 |
N/A |
INTRINSIC |
low complexity region
|
948 |
964 |
N/A |
INTRINSIC |
low complexity region
|
974 |
988 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1056 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124745
|
SMART Domains |
Protein: ENSMUSP00000121042 Gene: ENSMUSG00000074247
Domain | Start | End | E-Value | Type |
Pfam:DDA1
|
3 |
65 |
6e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135052
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146677
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212768
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213016
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213382
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147642
|
SMART Domains |
Protein: ENSMUSP00000123665 Gene: ENSMUSG00000074247
Domain | Start | End | E-Value | Type |
Pfam:DDA1
|
3 |
52 |
1.2e-23 |
PFAM |
low complexity region
|
84 |
98 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.8%
- 20x: 78.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak7 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
12: 105,676,448 (GRCm39) |
|
probably benign |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Bpifb9a |
G |
C |
2: 154,104,327 (GRCm39) |
E257Q |
possibly damaging |
Het |
Cdh19 |
T |
C |
1: 110,882,314 (GRCm39) |
I59M |
probably benign |
Het |
Cmah |
A |
G |
13: 24,619,645 (GRCm39) |
D171G |
probably damaging |
Het |
Colec12 |
T |
C |
18: 9,866,837 (GRCm39) |
S683P |
unknown |
Het |
Dixdc1 |
C |
T |
9: 50,614,546 (GRCm39) |
A168T |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,871,425 (GRCm39) |
D461G |
probably benign |
Het |
Entpd3 |
A |
G |
9: 120,387,427 (GRCm39) |
H208R |
probably benign |
Het |
Fuz |
T |
C |
7: 44,546,350 (GRCm39) |
I39T |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,594 (GRCm39) |
N238D |
possibly damaging |
Het |
Itpr3 |
G |
T |
17: 27,310,343 (GRCm39) |
A403S |
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
Mtor |
G |
C |
4: 148,623,287 (GRCm39) |
G2046R |
possibly damaging |
Het |
Myh13 |
T |
C |
11: 67,247,007 (GRCm39) |
S1243P |
possibly damaging |
Het |
Net1 |
A |
T |
13: 3,934,375 (GRCm39) |
C441S |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,021,169 (GRCm39) |
F552S |
probably damaging |
Het |
Or2y15 |
G |
A |
11: 49,351,047 (GRCm39) |
M180I |
probably benign |
Het |
Or4k47 |
A |
T |
2: 111,451,870 (GRCm39) |
L183Q |
probably damaging |
Het |
Or9i16 |
C |
A |
19: 13,865,159 (GRCm39) |
Q138H |
probably damaging |
Het |
Ovch2 |
T |
C |
7: 107,395,755 (GRCm39) |
I88V |
probably benign |
Het |
Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,187,950 (GRCm39) |
Y3453H |
probably damaging |
Het |
Rabgef1 |
T |
G |
5: 130,241,703 (GRCm39) |
L369* |
probably null |
Het |
Rufy1 |
A |
T |
11: 50,305,425 (GRCm39) |
|
probably null |
Het |
Sec16b |
T |
C |
1: 157,388,487 (GRCm39) |
V618A |
probably benign |
Het |
Sh3rf1 |
A |
G |
8: 61,846,821 (GRCm39) |
R876G |
possibly damaging |
Het |
Slc26a8 |
A |
G |
17: 28,891,772 (GRCm39) |
Y126H |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zp1 |
G |
A |
19: 10,896,275 (GRCm39) |
T150I |
probably benign |
Het |
|
Other mutations in Ano8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00338:Ano8
|
APN |
8 |
71,936,902 (GRCm39) |
splice site |
probably benign |
|
IGL00501:Ano8
|
APN |
8 |
71,931,793 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01380:Ano8
|
APN |
8 |
71,933,453 (GRCm39) |
unclassified |
probably benign |
|
IGL02138:Ano8
|
APN |
8 |
71,937,486 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02516:Ano8
|
APN |
8 |
71,937,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02675:Ano8
|
APN |
8 |
71,936,184 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02995:Ano8
|
APN |
8 |
71,935,761 (GRCm39) |
missense |
possibly damaging |
0.72 |
H8786:Ano8
|
UTSW |
8 |
71,931,388 (GRCm39) |
unclassified |
probably benign |
|
R0265:Ano8
|
UTSW |
8 |
71,933,168 (GRCm39) |
unclassified |
probably benign |
|
R0282:Ano8
|
UTSW |
8 |
71,933,258 (GRCm39) |
unclassified |
probably benign |
|
R0518:Ano8
|
UTSW |
8 |
71,931,902 (GRCm39) |
missense |
probably benign |
0.39 |
R0521:Ano8
|
UTSW |
8 |
71,931,902 (GRCm39) |
missense |
probably benign |
0.39 |
R1147:Ano8
|
UTSW |
8 |
71,934,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R1147:Ano8
|
UTSW |
8 |
71,934,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R1748:Ano8
|
UTSW |
8 |
71,931,602 (GRCm39) |
unclassified |
probably benign |
|
R1852:Ano8
|
UTSW |
8 |
71,936,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R4161:Ano8
|
UTSW |
8 |
71,935,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4192:Ano8
|
UTSW |
8 |
71,935,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R4274:Ano8
|
UTSW |
8 |
71,931,385 (GRCm39) |
unclassified |
probably benign |
|
R4834:Ano8
|
UTSW |
8 |
71,936,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Ano8
|
UTSW |
8 |
71,935,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R5252:Ano8
|
UTSW |
8 |
71,935,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R5553:Ano8
|
UTSW |
8 |
71,937,641 (GRCm39) |
splice site |
probably null |
|
R5598:Ano8
|
UTSW |
8 |
71,935,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R5695:Ano8
|
UTSW |
8 |
71,935,887 (GRCm39) |
missense |
probably damaging |
0.98 |
R5994:Ano8
|
UTSW |
8 |
71,937,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R6019:Ano8
|
UTSW |
8 |
71,935,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6153:Ano8
|
UTSW |
8 |
71,933,441 (GRCm39) |
unclassified |
probably benign |
|
R6405:Ano8
|
UTSW |
8 |
71,935,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6516:Ano8
|
UTSW |
8 |
71,934,424 (GRCm39) |
splice site |
probably null |
|
R6539:Ano8
|
UTSW |
8 |
71,937,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Ano8
|
UTSW |
8 |
71,935,007 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7204:Ano8
|
UTSW |
8 |
71,931,669 (GRCm39) |
missense |
probably benign |
0.39 |
R7340:Ano8
|
UTSW |
8 |
71,935,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R7365:Ano8
|
UTSW |
8 |
71,937,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Ano8
|
UTSW |
8 |
71,933,477 (GRCm39) |
missense |
unknown |
|
R7486:Ano8
|
UTSW |
8 |
71,937,642 (GRCm39) |
critical splice donor site |
probably null |
|
R7644:Ano8
|
UTSW |
8 |
71,937,474 (GRCm39) |
missense |
probably damaging |
0.98 |
R7709:Ano8
|
UTSW |
8 |
71,934,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7719:Ano8
|
UTSW |
8 |
71,935,784 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8040:Ano8
|
UTSW |
8 |
71,934,812 (GRCm39) |
missense |
probably benign |
0.26 |
R8219:Ano8
|
UTSW |
8 |
71,933,357 (GRCm39) |
missense |
unknown |
|
R8355:Ano8
|
UTSW |
8 |
71,933,210 (GRCm39) |
unclassified |
probably benign |
|
R8401:Ano8
|
UTSW |
8 |
71,936,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R8713:Ano8
|
UTSW |
8 |
71,937,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Ano8
|
UTSW |
8 |
71,935,724 (GRCm39) |
missense |
probably benign |
0.11 |
R8871:Ano8
|
UTSW |
8 |
71,931,944 (GRCm39) |
missense |
probably benign |
0.39 |
R8903:Ano8
|
UTSW |
8 |
71,934,834 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8990:Ano8
|
UTSW |
8 |
71,929,201 (GRCm39) |
missense |
unknown |
|
R9037:Ano8
|
UTSW |
8 |
71,937,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Ano8
|
UTSW |
8 |
71,936,178 (GRCm39) |
missense |
probably benign |
0.28 |
R9432:Ano8
|
UTSW |
8 |
71,933,561 (GRCm39) |
missense |
unknown |
|
R9492:Ano8
|
UTSW |
8 |
71,934,784 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9609:Ano8
|
UTSW |
8 |
71,933,726 (GRCm39) |
missense |
unknown |
|
X0026:Ano8
|
UTSW |
8 |
71,931,801 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGCTCAGCAAAGCTGACCTTCTTG -3'
(R):5'- GCGCAAAATGGGTCTTAGTGCAG -3'
Sequencing Primer
(F):5'- AAGCTGACCTTCTTGAGGCG -3'
(R):5'- CCGGGAAGGgtgtgtgtg -3'
|
Posted On |
2014-01-05 |