Incidental Mutation 'R9037:Ano8'
| ID |
687473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano8
|
| Ensembl Gene |
ENSMUSG00000034863 |
| Gene Name |
anoctamin 8 |
| Synonyms |
Tmem16h |
| MMRRC Submission |
068969-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71937088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 160
(F160S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091157
(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: F160S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: F160S
| 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 |
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 |
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 |
probably damaging
Transcript: ENSMUST00000213382
AA Change: F160S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8793 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
T |
A |
18: 61,952,066 (GRCm39) |
I432F |
probably benign |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,087,325 (GRCm39) |
T400A |
possibly damaging |
Het |
| Afap1l2 |
A |
T |
19: 56,918,403 (GRCm39) |
|
probably benign |
Het |
| Anapc4 |
C |
A |
5: 53,021,843 (GRCm39) |
Q642K |
probably benign |
Het |
| Apob |
T |
C |
12: 8,066,501 (GRCm39) |
V4490A |
probably benign |
Het |
| Bcar1 |
A |
C |
8: 112,447,522 (GRCm39) |
F152V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,386,395 (GRCm39) |
D174G |
probably benign |
Het |
| Capn11 |
T |
C |
17: 45,950,357 (GRCm39) |
K328R |
probably benign |
Het |
| Colq |
C |
A |
14: 31,279,744 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
A |
C |
7: 126,299,772 (GRCm39) |
M350R |
probably benign |
Het |
| Ctbp1 |
T |
A |
5: 33,424,352 (GRCm39) |
M24L |
probably benign |
Het |
| Cyp2c55 |
T |
A |
19: 39,030,537 (GRCm39) |
F456L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,248,104 (GRCm39) |
K747M |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,803,791 (GRCm39) |
D3048G |
unknown |
Het |
| Esp36 |
C |
T |
17: 38,729,840 (GRCm39) |
G60D |
unknown |
Het |
| Gast |
A |
G |
11: 100,227,436 (GRCm39) |
E43G |
probably damaging |
Het |
| Gm5849 |
T |
G |
3: 90,685,155 (GRCm39) |
N10T |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,793,524 (GRCm39) |
S62P |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,832,665 (GRCm39) |
D903G |
possibly damaging |
Het |
| Hk2 |
T |
A |
6: 82,720,339 (GRCm39) |
I201F |
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,664 (GRCm39) |
D118G |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,420,400 (GRCm39) |
K1079E |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,081 (GRCm39) |
V9A |
probably benign |
Het |
| Ints2 |
G |
A |
11: 86,106,530 (GRCm39) |
T960I |
probably benign |
Het |
| Klk12 |
T |
C |
7: 43,419,139 (GRCm39) |
W35R |
probably damaging |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,518 (GRCm39) |
N3081S |
probably benign |
Het |
| Mal2 |
A |
G |
15: 54,434,939 (GRCm39) |
N12S |
unknown |
Het |
| Mgat1 |
T |
G |
11: 49,152,256 (GRCm39) |
N246K |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,439,190 (GRCm39) |
V216E |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,557 (GRCm39) |
|
probably benign |
Het |
| Mtmr9 |
T |
A |
14: 63,761,532 (GRCm39) |
T541S |
possibly damaging |
Het |
| Or4a73 |
C |
T |
2: 89,421,051 (GRCm39) |
R136Q |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,382 (GRCm39) |
H25L |
probably benign |
Het |
| Or5ak25 |
T |
C |
2: 85,269,139 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or8k3 |
G |
T |
2: 86,059,042 (GRCm39) |
T91K |
probably benign |
Het |
| P2rx6 |
A |
G |
16: 17,388,307 (GRCm39) |
T328A |
possibly damaging |
Het |
| Pcdhb12 |
A |
C |
18: 37,569,229 (GRCm39) |
E125A |
probably benign |
Het |
| Pde3a |
C |
A |
6: 141,416,832 (GRCm39) |
Q569K |
probably damaging |
Het |
| Pepd |
A |
T |
7: 34,720,398 (GRCm39) |
Q227L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,225,902 (GRCm39) |
E911D |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,592,379 (GRCm39) |
R1241* |
probably null |
Het |
| Pold1 |
T |
C |
7: 44,188,339 (GRCm39) |
D513G |
probably damaging |
Het |
| Polr1d |
A |
T |
5: 147,015,490 (GRCm39) |
I58L |
probably benign |
Het |
| Ppif |
T |
C |
14: 25,694,828 (GRCm39) |
L58P |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,590 (GRCm39) |
K101R |
probably benign |
Het |
| Psma8 |
G |
T |
18: 14,854,251 (GRCm39) |
V44L |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,036 (GRCm39) |
Y122C |
possibly damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,317 (GRCm39) |
T12A |
probably benign |
Het |
| Rasal3 |
C |
A |
17: 32,614,094 (GRCm39) |
R587L |
probably benign |
Het |
| Rnf146 |
T |
C |
10: 29,223,676 (GRCm39) |
K70R |
probably benign |
Het |
| Serpinb6b |
G |
T |
13: 33,161,998 (GRCm39) |
E266* |
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,582,725 (GRCm39) |
M252K |
probably benign |
Het |
| Slc2a1 |
T |
C |
4: 118,993,494 (GRCm39) |
F444L |
probably damaging |
Het |
| Sox9 |
A |
G |
11: 112,675,650 (GRCm39) |
S280G |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,944 (GRCm39) |
K861E |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,961,539 (GRCm39) |
V1243A |
probably benign |
Het |
| Trpv2 |
A |
T |
11: 62,475,231 (GRCm39) |
T215S |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,299,981 (GRCm39) |
E490G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,487 (GRCm39) |
D86V |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,251 (GRCm39) |
T980A |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,236,268 (GRCm39) |
V74A |
probably benign |
Het |
| Zan |
A |
G |
5: 137,452,578 (GRCm39) |
V1501A |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,758,836 (GRCm39) |
E169G |
possibly damaging |
Het |
| Zfp788 |
C |
T |
7: 41,298,315 (GRCm39) |
T317I |
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 |
|
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 |
|
|
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'- TCACTGATTGGCTGGTCCTC -3'
(R):5'- TTGTCCTAAGATGTGGCTCTCG -3'
Sequencing Primer
(F):5'- ATTGGCTGGTCCTCCAAGAAG -3'
(R):5'- TAAGATGTGGCTCTCGCACAGTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation