Incidental Mutation 'R8713:Ano8'
| ID |
669713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano8
|
| Ensembl Gene |
ENSMUSG00000034863 |
| Gene Name |
anoctamin 8 |
| Synonyms |
Tmem16h |
| MMRRC Submission |
068567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71476019-71485963 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71485077 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 47
(G47D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000150969]
[ENSMUST00000168847]
[ENSMUST00000213382]
|
| AlphaFold |
Q6PB70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007754
|
| SMART Domains |
Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
1.8e-36 |
PFAM |
|
Pfam:FeoB_N
|
250 |
390 |
3.9e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
251 |
375 |
1.6e-18 |
PFAM |
|
Pfam:GTPase_Cys_C
|
421 |
489 |
9.9e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093450
AA Change: G47D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: G47D
| 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: ENSMUST00000095259
|
| SMART Domains |
Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
4.1e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127741
|
| SMART Domains |
Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150969
|
| SMART Domains |
Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
152 |
1.8e-36 |
PFAM |
|
Pfam:FeoB_N
|
250 |
390 |
3.9e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
251 |
375 |
1.6e-18 |
PFAM |
|
Pfam:GTPase_Cys_C
|
421 |
489 |
9.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168847
|
| SMART Domains |
Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TrmE_N
|
35 |
153 |
3e-35 |
PFAM |
|
Pfam:MnmE_helical
|
156 |
490 |
2e-48 |
PFAM |
|
Pfam:FeoB_N
|
251 |
390 |
1.5e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
252 |
376 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213016
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213382
AA Change: G47D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1162 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,873,174 (GRCm38) |
A581V |
possibly damaging |
Het |
| Adam18 |
T |
A |
8: 24,652,173 (GRCm38) |
M196L |
probably benign |
Het |
| Ankrd10 |
A |
G |
8: 11,628,491 (GRCm38) |
S134P |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,116,762 (GRCm38) |
V4A |
unknown |
Het |
| Cabp4 |
C |
T |
19: 4,136,160 (GRCm38) |
M247I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,404,207 (GRCm38) |
L11Q |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,533,863 (GRCm38) |
S288P |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,829,863 (GRCm38) |
I1182V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,088,202 (GRCm38) |
D1788G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,168,725 (GRCm38) |
D193G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,056,738 (GRCm38) |
Y132* |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,141,008 (GRCm38) |
Q1340* |
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,274,621 (GRCm38) |
|
probably benign |
Het |
| Fbxw15 |
A |
C |
9: 109,555,599 (GRCm38) |
F378V |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,981,109 (GRCm38) |
G2591R |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,915,354 (GRCm38) |
D148E |
probably benign |
Het |
| Iars2 |
T |
C |
1: 185,291,418 (GRCm38) |
D772G |
possibly damaging |
Het |
| Ifit1 |
T |
A |
19: 34,647,638 (GRCm38) |
L58Q |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 75,962,926 (GRCm38) |
Q112H |
probably benign |
Het |
| Letm1 |
A |
G |
5: 33,762,505 (GRCm38) |
L230P |
probably damaging |
Het |
| Lrch4 |
G |
T |
5: 137,639,863 (GRCm38) |
E136* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,443,526 (GRCm38) |
|
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,057,126 (GRCm38) |
L79P |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,414,622 (GRCm38) |
N890K |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,641,803 (GRCm38) |
S270N |
probably benign |
Het |
| Mrpl44 |
C |
T |
1: 79,777,991 (GRCm38) |
R105C |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 140,140,223 (GRCm38) |
F68L |
probably benign |
Het |
| Mtg1 |
T |
A |
7: 140,137,775 (GRCm38) |
|
probably null |
Het |
| Nfil3 |
A |
G |
13: 52,968,011 (GRCm38) |
S286P |
possibly damaging |
Het |
| Nutm1 |
A |
G |
2: 112,251,322 (GRCm38) |
V332A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 59,135,966 (GRCm38) |
Q137L |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 125,818,786 (GRCm38) |
E1162A |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,900,817 (GRCm38) |
D117G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,524,901 (GRCm38) |
C215R |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,460,351 (GRCm38) |
Y461D |
probably damaging |
Het |
| Sbk3 |
C |
T |
7: 4,969,992 (GRCm38) |
V60I |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,610,270 (GRCm38) |
A852E |
possibly damaging |
Het |
| Sec24d |
T |
A |
3: 123,343,892 (GRCm38) |
I561N |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,311,585 (GRCm38) |
*501Q |
probably null |
Het |
| Slc6a19 |
C |
A |
13: 73,700,621 (GRCm38) |
V5L |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,133,485 (GRCm38) |
I34T |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,316,040 (GRCm38) |
L2191P |
probably damaging |
Het |
| Tbrg1 |
A |
G |
9: 37,652,659 (GRCm38) |
C227R |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,625,019 (GRCm38) |
S1713P |
probably benign |
Het |
| Thap12 |
C |
T |
7: 98,707,076 (GRCm38) |
L57F |
probably benign |
Het |
| Top1 |
G |
A |
2: 160,717,440 (GRCm38) |
V628I |
probably damaging |
Het |
| Trim67 |
A |
G |
8: 124,820,335 (GRCm38) |
M495V |
probably null |
Het |
| Trio |
A |
C |
15: 27,743,951 (GRCm38) |
|
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,703,032 (GRCm38) |
Y71F |
|
Het |
| Ywhah |
A |
G |
5: 33,027,191 (GRCm38) |
N246S |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,532 (GRCm38) |
I125T |
probably benign |
Het |
|
| Other mutations in Ano8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Ano8
|
APN |
8 |
71,484,258 (GRCm38) |
splice site |
probably benign |
|
|
IGL00501:Ano8
|
APN |
8 |
71,479,149 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01380:Ano8
|
APN |
8 |
71,480,809 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02138:Ano8
|
APN |
8 |
71,484,842 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02516:Ano8
|
APN |
8 |
71,485,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02675:Ano8
|
APN |
8 |
71,483,540 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02995:Ano8
|
APN |
8 |
71,483,117 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
H8786:Ano8
|
UTSW |
8 |
71,478,744 (GRCm38) |
unclassified |
probably benign |
|
|
R0265:Ano8
|
UTSW |
8 |
71,480,524 (GRCm38) |
unclassified |
probably benign |
|
|
R0282:Ano8
|
UTSW |
8 |
71,480,614 (GRCm38) |
unclassified |
probably benign |
|
|
R0518:Ano8
|
UTSW |
8 |
71,479,258 (GRCm38) |
missense |
probably benign |
0.39 |
|
R0521:Ano8
|
UTSW |
8 |
71,479,258 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1028:Ano8
|
UTSW |
8 |
71,480,971 (GRCm38) |
small deletion |
probably benign |
|
|
R1147:Ano8
|
UTSW |
8 |
71,482,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1147:Ano8
|
UTSW |
8 |
71,482,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1748:Ano8
|
UTSW |
8 |
71,478,958 (GRCm38) |
unclassified |
probably benign |
|
|
R1852:Ano8
|
UTSW |
8 |
71,483,487 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4161:Ano8
|
UTSW |
8 |
71,482,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4192:Ano8
|
UTSW |
8 |
71,483,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4274:Ano8
|
UTSW |
8 |
71,478,741 (GRCm38) |
unclassified |
probably benign |
|
|
R4834:Ano8
|
UTSW |
8 |
71,484,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4961:Ano8
|
UTSW |
8 |
71,482,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5252:Ano8
|
UTSW |
8 |
71,482,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5553:Ano8
|
UTSW |
8 |
71,484,997 (GRCm38) |
splice site |
probably null |
|
|
R5598:Ano8
|
UTSW |
8 |
71,482,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5695:Ano8
|
UTSW |
8 |
71,483,243 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5994:Ano8
|
UTSW |
8 |
71,484,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:Ano8
|
UTSW |
8 |
71,482,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6153:Ano8
|
UTSW |
8 |
71,480,797 (GRCm38) |
unclassified |
probably benign |
|
|
R6405:Ano8
|
UTSW |
8 |
71,483,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6516:Ano8
|
UTSW |
8 |
71,481,780 (GRCm38) |
splice site |
probably null |
|
|
R6539:Ano8
|
UTSW |
8 |
71,484,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7194:Ano8
|
UTSW |
8 |
71,482,363 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7204:Ano8
|
UTSW |
8 |
71,479,025 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7340:Ano8
|
UTSW |
8 |
71,483,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7365:Ano8
|
UTSW |
8 |
71,485,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7417:Ano8
|
UTSW |
8 |
71,480,833 (GRCm38) |
missense |
unknown |
|
|
R7486:Ano8
|
UTSW |
8 |
71,484,998 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7644:Ano8
|
UTSW |
8 |
71,484,830 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7709:Ano8
|
UTSW |
8 |
71,482,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7719:Ano8
|
UTSW |
8 |
71,483,140 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8040:Ano8
|
UTSW |
8 |
71,482,168 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8219:Ano8
|
UTSW |
8 |
71,480,713 (GRCm38) |
missense |
unknown |
|
|
R8355:Ano8
|
UTSW |
8 |
71,480,566 (GRCm38) |
unclassified |
probably benign |
|
|
R8401:Ano8
|
UTSW |
8 |
71,483,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8755:Ano8
|
UTSW |
8 |
71,483,080 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8871:Ano8
|
UTSW |
8 |
71,479,300 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8903:Ano8
|
UTSW |
8 |
71,482,190 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8990:Ano8
|
UTSW |
8 |
71,476,557 (GRCm38) |
missense |
unknown |
|
|
R9037:Ano8
|
UTSW |
8 |
71,484,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9379:Ano8
|
UTSW |
8 |
71,483,534 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9432:Ano8
|
UTSW |
8 |
71,480,917 (GRCm38) |
missense |
unknown |
|
|
R9492:Ano8
|
UTSW |
8 |
71,482,140 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9609:Ano8
|
UTSW |
8 |
71,481,082 (GRCm38) |
missense |
unknown |
|
|
X0026:Ano8
|
UTSW |
8 |
71,479,157 (GRCm38) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTGGTGTCTGCCAAGG -3'
(R):5'- CATGAGTAAGATTCTTAAGGCAGG -3'
Sequencing Primer
(F):5'- CATAGGGGCCAATGGGTC -3'
(R):5'- GACCTAGGGGGAAGGGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation