Incidental Mutation 'IGL01380:Ano8'
| ID |
78834 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ano8
|
| Ensembl Gene |
ENSMUSG00000034863 |
| Gene Name |
anoctamin 8 |
| Synonyms |
Tmem16h |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 71933453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093450]
[ENSMUST00000124745]
[ENSMUST00000138892]
[ENSMUST00000147642]
[ENSMUST00000213382]
|
| AlphaFold |
Q6PB70 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000093450
AA Change: V613A
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: V613A
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213016
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213382
AA Change: V657A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,840,053 (GRCm39) |
T42A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,634,948 (GRCm39) |
V352L |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,766,724 (GRCm39) |
M488K |
probably benign |
Het |
| Atp2a1 |
T |
A |
7: 126,047,942 (GRCm39) |
M623L |
possibly damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
| Btla |
A |
C |
16: 45,070,716 (GRCm39) |
D225A |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,146,659 (GRCm39) |
Q1218* |
probably null |
Het |
| Cacna1a |
A |
G |
8: 85,285,746 (GRCm39) |
Y750C |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,187,853 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,328,753 (GRCm39) |
I724N |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,556,772 (GRCm39) |
F937L |
probably benign |
Het |
| Clybl |
G |
T |
14: 122,616,761 (GRCm39) |
A259S |
probably benign |
Het |
| Cyp4f39 |
T |
G |
17: 32,700,832 (GRCm39) |
I167S |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,411,418 (GRCm39) |
D1566V |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,525,787 (GRCm39) |
A3867T |
probably damaging |
Het |
| Dtwd1 |
T |
A |
2: 126,001,847 (GRCm39) |
L189Q |
probably benign |
Het |
| Dusp10 |
T |
C |
1: 183,801,211 (GRCm39) |
I326T |
possibly damaging |
Het |
| Eaf1 |
T |
A |
14: 31,219,767 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,163,585 (GRCm39) |
|
probably benign |
Het |
| Fam169a |
C |
T |
13: 97,228,459 (GRCm39) |
T44M |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,570,782 (GRCm39) |
|
probably benign |
Het |
| Fam25a |
C |
T |
14: 34,075,655 (GRCm39) |
A46T |
probably null |
Het |
| Gckr |
A |
G |
5: 31,456,977 (GRCm39) |
|
probably benign |
Het |
| Gfra2 |
G |
T |
14: 71,204,586 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,703 (GRCm38) |
|
probably null |
Het |
| H2-Eb2 |
G |
T |
17: 34,554,783 (GRCm39) |
L228F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,914,261 (GRCm39) |
N1736S |
probably benign |
Het |
| Izumo1 |
T |
G |
7: 45,276,519 (GRCm39) |
S361A |
probably benign |
Het |
| Klri1 |
T |
C |
6: 129,675,761 (GRCm39) |
I170V |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,555,326 (GRCm39) |
A193V |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,567,544 (GRCm39) |
M105K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,030,158 (GRCm39) |
D1080G |
probably benign |
Het |
| Lrrc74a |
A |
T |
12: 86,808,496 (GRCm39) |
M425L |
possibly damaging |
Het |
| Mfsd13a |
G |
T |
19: 46,356,347 (GRCm39) |
D151Y |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,961,787 (GRCm39) |
E640K |
probably damaging |
Het |
| Napsa |
T |
C |
7: 44,236,098 (GRCm39) |
V379A |
probably damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,017 (GRCm39) |
M277K |
probably damaging |
Het |
| Or55b4 |
C |
T |
7: 102,133,592 (GRCm39) |
C245Y |
probably damaging |
Het |
| Or7c19 |
C |
A |
8: 85,957,775 (GRCm39) |
S217Y |
probably damaging |
Het |
| Or7c19 |
A |
T |
8: 85,957,958 (GRCm39) |
Y278F |
possibly damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,237 (GRCm39) |
V567A |
probably damaging |
Het |
| Oxsr1 |
A |
T |
9: 119,089,167 (GRCm39) |
|
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,860,362 (GRCm39) |
V167E |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,498 (GRCm39) |
H486R |
probably benign |
Het |
| Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
| Rbm6 |
T |
C |
9: 107,665,548 (GRCm39) |
D616G |
probably damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,027,108 (GRCm39) |
Y1249C |
probably damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,030,797 (GRCm39) |
H534R |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,485,777 (GRCm39) |
Y136H |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,590,369 (GRCm39) |
M1333V |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,933,161 (GRCm39) |
D54G |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,195,443 (GRCm39) |
V250E |
possibly damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Suv39h2 |
T |
A |
2: 3,465,296 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,968,005 (GRCm39) |
H63L |
probably damaging |
Het |
| Tex2 |
G |
A |
11: 106,435,141 (GRCm39) |
Q264* |
probably null |
Het |
| Thnsl2 |
A |
C |
6: 71,115,740 (GRCm39) |
S156A |
probably benign |
Het |
| Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,890,566 (GRCm39) |
L758P |
probably benign |
Het |
| Zfyve1 |
G |
A |
12: 83,599,281 (GRCm39) |
R144C |
probably damaging |
Het |
| Zpld1 |
A |
G |
16: 55,072,133 (GRCm39) |
V42A |
probably damaging |
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 |
|
|
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 |
|
R1028:Ano8
|
UTSW |
8 |
71,933,615 (GRCm39) |
small deletion |
probably benign |
|
|
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 |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation