Incidental Mutation 'R4192:Ano8'
| ID |
318358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano8
|
| Ensembl Gene |
ENSMUSG00000034863 |
| Gene Name |
anoctamin 8 |
| Synonyms |
Tmem16h |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71476019-71485963 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71483292 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 260
(V260D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[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: V260D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: V260D
| 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: 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: V260D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 36,096,579 (GRCm38) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,043,174 (GRCm38) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,242,524 (GRCm38) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,943,318 (GRCm38) |
D418A |
probably benign |
Het |
| Cfh |
C |
T |
1: 140,102,716 (GRCm38) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,847,271 (GRCm38) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,207,077 (GRCm38) |
D182E |
probably benign |
Het |
| E330021D16Rik |
T |
C |
6: 136,401,437 (GRCm38) |
T132A |
probably benign |
Het |
| Epb42 |
G |
T |
2: 121,030,089 (GRCm38) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,425,124 (GRCm38) |
|
probably benign |
Het |
| Fam205c |
A |
T |
4: 42,874,185 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,647,149 (GRCm38) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,007,998 (GRCm38) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,502,232 (GRCm38) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,481,511 (GRCm38) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,507,733 (GRCm38) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 128,064,732 (GRCm38) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,740,513 (GRCm38) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,473,042 (GRCm38) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,407,377 (GRCm38) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,605,534 (GRCm38) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm38) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 56,297,249 (GRCm38) |
F342S |
probably damaging |
Het |
| Olfr934 |
T |
A |
9: 38,983,017 (GRCm38) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,585,229 (GRCm38) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,763,541 (GRCm38) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,258,741 (GRCm38) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,051,959 (GRCm38) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,925,470 (GRCm38) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,155,809 (GRCm38) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,708,378 (GRCm38) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,902,739 (GRCm38) |
T207A |
possibly damaging |
Het |
| Syt12 |
T |
A |
19: 4,447,681 (GRCm38) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,446,657 (GRCm38) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,479,247 (GRCm38) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,586,826 (GRCm38) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,215,827 (GRCm38) |
I14R |
probably damaging |
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 |
|
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 |
|
R8713:Ano8
|
UTSW |
8 |
71,485,077 (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'- AAACATCCCGGCTTGTCTG -3'
(R):5'- GTTTCCAGTTCACGAGCAGC -3'
Sequencing Primer
(F):5'- CATCCCGGCTTGTCTGTAGGTAG -3'
(R):5'- CGAGCAGCGTATTCTGAATCGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation