Incidental Mutation 'H8786:Ano8'
| ID |
44448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano8
|
| Ensembl Gene |
ENSMUSG00000034863 |
| Gene Name |
anoctamin 8 |
| Synonyms |
Tmem16h |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
H8786 (G3)
of strain
617
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 71931388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093450]
[ENSMUST00000124745]
[ENSMUST00000138892]
[ENSMUST00000213382]
[ENSMUST00000147642]
|
| AlphaFold |
Q6PB70 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000093450
AA Change: Y875N
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: Y875N
| 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 |
noncoding transcript
Transcript: ENSMUST00000098645
|
| 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 |
unknown
Transcript: ENSMUST00000213382
AA Change: Y919N
|
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,498,905 (GRCm39) |
Y363H |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,740,906 (GRCm39) |
R103S |
probably damaging |
Het |
| Aars1 |
A |
G |
8: 111,772,187 (GRCm39) |
D459G |
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,207,261 (GRCm39) |
M176L |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,083,461 (GRCm39) |
Q1136L |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Avpr1a |
A |
T |
10: 122,285,373 (GRCm39) |
M222L |
probably benign |
Het |
| B4galnt4 |
A |
T |
7: 140,651,235 (GRCm39) |
M939L |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,822,001 (GRCm39) |
F331S |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Caml |
T |
G |
13: 55,776,409 (GRCm39) |
L216R |
probably damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Ces1h |
A |
C |
8: 94,089,550 (GRCm39) |
V283G |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,369,629 (GRCm39) |
V427D |
possibly damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,122 (GRCm39) |
N357I |
possibly damaging |
Het |
| Foxq1 |
C |
G |
13: 31,743,441 (GRCm39) |
S181W |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm42542 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
CGG |
CGNGG |
6: 52,260,636 (GRCm38) |
|
probably null |
Het |
| Hsd11b1 |
C |
A |
1: 192,922,560 (GRCm39) |
A166S |
probably benign |
Het |
| Kcnab3 |
T |
A |
11: 69,219,093 (GRCm39) |
F101L |
probably damaging |
Het |
| Klf6 |
C |
A |
13: 5,911,790 (GRCm39) |
H51Q |
probably damaging |
Het |
| Krtap4-8 |
G |
A |
11: 99,670,898 (GRCm39) |
P191L |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Mrgprd |
T |
C |
7: 144,876,004 (GRCm39) |
S292P |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,725 (GRCm39) |
I127T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,744,985 (GRCm39) |
N280T |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,304 (GRCm39) |
F297S |
probably damaging |
Het |
| Npas1 |
A |
G |
7: 16,195,275 (GRCm39) |
I351T |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,341 (GRCm39) |
E8G |
probably benign |
Het |
| Or4a72 |
C |
A |
2: 89,405,623 (GRCm39) |
G149V |
probably damaging |
Het |
| Or9e1 |
A |
T |
11: 58,732,146 (GRCm39) |
I69F |
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,448,598 (GRCm39) |
T72A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,427,396 (GRCm39) |
V300A |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,612 (GRCm39) |
E881G |
possibly damaging |
Het |
| Polr2h |
T |
A |
16: 20,539,281 (GRCm39) |
L57* |
probably null |
Het |
| Rela |
T |
A |
19: 5,697,046 (GRCm39) |
S418T |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,180 (GRCm39) |
T838A |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,560,955 (GRCm39) |
N413K |
possibly damaging |
Het |
| Slc6a2 |
A |
G |
8: 93,721,268 (GRCm39) |
I466V |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,876 (GRCm39) |
C329S |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,077,691 (GRCm39) |
M164V |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,007,405 (GRCm39) |
V212M |
probably damaging |
Het |
| Sqor |
A |
C |
2: 122,634,288 (GRCm39) |
I142L |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Tlk2 |
T |
A |
11: 105,145,805 (GRCm39) |
I337N |
possibly damaging |
Het |
| Tln1 |
A |
T |
4: 43,544,589 (GRCm39) |
N1113K |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,068,182 (GRCm39) |
Y234C |
probably damaging |
Het |
| Tmem167 |
A |
C |
13: 90,246,585 (GRCm39) |
K36N |
probably damaging |
Het |
| Trim72 |
T |
C |
7: 127,603,963 (GRCm39) |
L103P |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,408,012 (GRCm39) |
|
probably null |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,898,164 (GRCm39) |
M721K |
possibly damaging |
Het |
| Zfp143 |
T |
G |
7: 109,693,575 (GRCm39) |
D636E |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAAGTGCAGAACCTGGGGATGG -3'
(R):5'- TCCGAAGTGATGCCTTCAAGCTC -3'
Sequencing Primer
(F):5'- ACCTGGGGATGGGGGTAG -3'
(R):5'- GTGGTAAACTGCTACCTCATTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation