Incidental Mutation 'R9609:Ano8'
ID |
724093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano8
|
Ensembl Gene |
ENSMUSG00000034863 |
Gene Name |
anoctamin 8 |
Synonyms |
Tmem16h |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9609 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71933726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 522
(D522V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093450]
[ENSMUST00000124745]
[ENSMUST00000138892]
[ENSMUST00000147642]
[ENSMUST00000213382]
|
AlphaFold |
Q6PB70 |
Predicted Effect |
unknown
Transcript: ENSMUST00000093450
AA Change: D522V
|
SMART Domains |
Protein: ENSMUSP00000091157 Gene: ENSMUSG00000034863 AA Change: D522V
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 |
probably benign
Transcript: ENSMUST00000138892
|
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 |
unknown
Transcript: ENSMUST00000213382
AA Change: D566V
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,208,549 (GRCm39) |
S241P |
probably damaging |
Het |
Adam23 |
A |
T |
1: 63,576,102 (GRCm39) |
M295L |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,988,667 (GRCm39) |
L120P |
probably damaging |
Het |
Atp5mc2 |
A |
G |
15: 102,573,580 (GRCm39) |
F79L |
probably damaging |
Het |
Baiap2 |
C |
T |
11: 119,847,958 (GRCm39) |
R29C |
probably damaging |
Het |
Bicdl2 |
A |
G |
17: 23,884,513 (GRCm39) |
E145G |
|
Het |
Cad |
T |
C |
5: 31,228,018 (GRCm39) |
|
probably null |
Het |
Dhrs7b |
A |
G |
11: 60,735,121 (GRCm39) |
R51G |
possibly damaging |
Het |
Dnah3 |
A |
T |
7: 119,670,236 (GRCm39) |
Y694N |
probably damaging |
Het |
Dnaja4 |
G |
A |
9: 54,616,644 (GRCm39) |
G216S |
probably null |
Het |
Dync1h1 |
T |
C |
12: 110,607,362 (GRCm39) |
V2651A |
probably benign |
Het |
Fbxw28 |
T |
C |
9: 109,167,515 (GRCm39) |
T81A |
probably benign |
Het |
Fga |
A |
T |
3: 82,940,064 (GRCm39) |
I573F |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,879,674 (GRCm39) |
I176N |
probably damaging |
Het |
Fhl5 |
A |
T |
4: 25,214,653 (GRCm39) |
C41* |
probably null |
Het |
Fibcd1 |
A |
G |
2: 31,728,653 (GRCm39) |
V68A |
probably benign |
Het |
Fign |
T |
C |
2: 63,810,286 (GRCm39) |
D328G |
probably benign |
Het |
Gtpbp10 |
A |
C |
5: 5,607,396 (GRCm39) |
F15C |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,555,346 (GRCm39) |
V2475D |
probably damaging |
Het |
Iglv3 |
A |
G |
16: 19,060,221 (GRCm39) |
S36P |
probably damaging |
Het |
Igsf10 |
G |
T |
3: 59,226,869 (GRCm39) |
T2268N |
probably damaging |
Het |
Krt75 |
A |
G |
15: 101,474,677 (GRCm39) |
I473T |
probably benign |
Het |
Lcn3 |
A |
G |
2: 25,657,596 (GRCm39) |
E162G |
possibly damaging |
Het |
Lnpk |
A |
G |
2: 74,401,298 (GRCm39) |
V17A |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mlip |
T |
A |
9: 77,045,797 (GRCm39) |
L894F |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,577,234 (GRCm39) |
T175S |
|
Het |
Nkpd1 |
A |
C |
7: 19,257,462 (GRCm39) |
I414L |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,540,203 (GRCm39) |
N834K |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,843,599 (GRCm39) |
T99A |
probably benign |
Het |
Patj |
T |
G |
4: 98,576,473 (GRCm39) |
F570L |
probably benign |
Het |
Piwil4 |
T |
C |
9: 14,614,443 (GRCm39) |
T107A |
|
Het |
Ppp1r12b |
G |
A |
1: 134,824,084 (GRCm39) |
Q180* |
probably null |
Het |
Prpf4b |
A |
G |
13: 35,068,032 (GRCm39) |
D287G |
unknown |
Het |
Rab17 |
T |
C |
1: 90,891,907 (GRCm39) |
Y39C |
probably damaging |
Het |
Rbsn |
T |
A |
6: 92,179,565 (GRCm39) |
I125F |
probably damaging |
Het |
Rnf207 |
C |
A |
4: 152,402,222 (GRCm39) |
G74C |
probably damaging |
Het |
Rrs1 |
T |
C |
1: 9,616,518 (GRCm39) |
L257P |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,683,848 (GRCm39) |
E3072G |
probably damaging |
Het |
Scn8a |
A |
C |
15: 100,834,407 (GRCm39) |
I68L |
possibly damaging |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc26a7 |
T |
A |
4: 14,532,636 (GRCm39) |
I413F |
probably damaging |
Het |
Slc4a11 |
T |
A |
2: 130,530,035 (GRCm39) |
T248S |
possibly damaging |
Het |
Spen |
A |
G |
4: 141,215,419 (GRCm39) |
I471T |
unknown |
Het |
Tbpl2 |
C |
T |
2: 23,977,197 (GRCm39) |
D274N |
probably damaging |
Het |
Timm23 |
A |
G |
14: 31,902,543 (GRCm39) |
M200T |
probably benign |
Het |
Tlr3 |
T |
C |
8: 45,850,117 (GRCm39) |
I851V |
probably benign |
Het |
Tnfrsf18 |
T |
A |
4: 156,113,208 (GRCm39) |
V298E |
possibly damaging |
Het |
Trav6-3 |
A |
G |
14: 53,667,618 (GRCm39) |
N41S |
possibly damaging |
Het |
Trim17 |
C |
A |
11: 58,855,964 (GRCm39) |
A7D |
probably damaging |
Het |
Ttbk1 |
T |
C |
17: 46,758,148 (GRCm39) |
T829A |
probably damaging |
Het |
Ugt3a1 |
A |
C |
15: 9,361,905 (GRCm39) |
E227A |
probably damaging |
Het |
Vmn1r218 |
C |
T |
13: 23,320,839 (GRCm39) |
T62I |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,743,732 (GRCm39) |
L465P |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,841,831 (GRCm39) |
Q1951L |
probably damaging |
Het |
Wdcp |
A |
G |
12: 4,900,258 (GRCm39) |
D38G |
probably damaging |
Het |
Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
Zc3h4 |
T |
A |
7: 16,150,751 (GRCm39) |
V23D |
unknown |
Het |
Zkscan8 |
C |
A |
13: 21,709,434 (GRCm39) |
V155F |
possibly 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 |
|
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 |
X0026:Ano8
|
UTSW |
8 |
71,931,801 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAAAGCTGACCTTCTTGAG -3'
(R):5'- TTCGTTTGCAGATGCTGGCC -3'
Sequencing Primer
(F):5'- CGCAGTCTAGGAGGCTTCC -3'
(R):5'- AGATGCTGGCCACCCTACTC -3'
|
Posted On |
2022-09-12 |