Incidental Mutation 'R5553:Ano8'
ID |
435224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano8
|
Ensembl Gene |
ENSMUSG00000034863 |
Gene Name |
anoctamin 8 |
Synonyms |
Tmem16h |
MMRRC Submission |
043110-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5553 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to A
at 71937641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007754]
[ENSMUST00000093450]
[ENSMUST00000095259]
[ENSMUST00000127741]
[ENSMUST00000213382]
[ENSMUST00000168847]
[ENSMUST00000150969]
|
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 null
Transcript: ENSMUST00000093450
|
SMART Domains |
Protein: ENSMUSP00000091157 Gene: ENSMUSG00000034863
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 |
noncoding transcript
Transcript: ENSMUST00000213016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212768
|
Predicted Effect |
probably null
Transcript: ENSMUST00000213382
|
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 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,792,690 (GRCm39) |
I86F |
probably damaging |
Het |
Abca13 |
C |
T |
11: 9,278,158 (GRCm39) |
L3113F |
probably damaging |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Arid1b |
A |
T |
17: 5,364,152 (GRCm39) |
S1041C |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,620 (GRCm39) |
|
probably benign |
Het |
Cbr3 |
A |
G |
16: 93,480,451 (GRCm39) |
E80G |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 17,605,875 (GRCm39) |
E271G |
probably benign |
Het |
Dock3 |
T |
A |
9: 106,868,309 (GRCm39) |
K658N |
possibly damaging |
Het |
Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
Dppa1 |
T |
A |
11: 46,503,861 (GRCm39) |
|
probably null |
Het |
Fen1 |
T |
C |
19: 10,177,787 (GRCm39) |
N219S |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,793,090 (GRCm39) |
T416A |
probably benign |
Het |
Gm14393 |
A |
T |
2: 174,903,639 (GRCm39) |
C89* |
probably null |
Het |
Grin2c |
C |
T |
11: 115,143,551 (GRCm39) |
M736I |
probably null |
Het |
Heatr5b |
A |
T |
17: 79,060,780 (GRCm39) |
|
probably null |
Het |
Hspbap1 |
G |
T |
16: 35,621,967 (GRCm39) |
W104L |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,895,622 (GRCm39) |
G1648E |
probably damaging |
Het |
Irf4 |
A |
G |
13: 30,935,811 (GRCm39) |
Y122C |
probably damaging |
Het |
Kremen2 |
A |
G |
17: 23,960,776 (GRCm39) |
|
probably benign |
Het |
Niban1 |
C |
T |
1: 151,592,986 (GRCm39) |
T557M |
probably damaging |
Het |
Nubpl |
T |
A |
12: 52,228,082 (GRCm39) |
L169M |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,604 (GRCm39) |
S1200P |
possibly damaging |
Het |
Or1j20 |
A |
G |
2: 36,760,477 (GRCm39) |
I300V |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,478 (GRCm39) |
S201T |
probably benign |
Het |
Parp14 |
G |
T |
16: 35,677,306 (GRCm39) |
H887Q |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,980,637 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,822,565 (GRCm39) |
M392T |
probably benign |
Het |
Plekhm3 |
T |
C |
1: 64,961,045 (GRCm39) |
S404G |
possibly damaging |
Het |
Prelid3a |
T |
C |
18: 67,610,093 (GRCm39) |
L141P |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,186,090 (GRCm39) |
V1715E |
probably damaging |
Het |
Rc3h2 |
G |
A |
2: 37,288,323 (GRCm39) |
R420* |
probably null |
Het |
Selenon |
C |
A |
4: 134,268,228 (GRCm39) |
R435L |
probably damaging |
Het |
Slc29a4 |
T |
C |
5: 142,705,791 (GRCm39) |
L425P |
probably damaging |
Het |
Slc30a9 |
T |
A |
5: 67,502,947 (GRCm39) |
|
probably null |
Het |
Slc9a5 |
T |
C |
8: 106,083,672 (GRCm39) |
V404A |
probably damaging |
Het |
Ssc5d |
A |
T |
7: 4,939,289 (GRCm39) |
D575V |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,721,940 (GRCm39) |
|
probably null |
Het |
Vmn2r100 |
A |
G |
17: 19,725,110 (GRCm39) |
Q13R |
possibly damaging |
Het |
Wfikkn1 |
T |
A |
17: 26,097,468 (GRCm39) |
L285F |
possibly damaging |
Het |
Zcchc17 |
A |
G |
4: 130,247,927 (GRCm39) |
|
probably null |
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 |
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'- CGTATGTGGCGGTGACAAAG -3'
(R):5'- CCCTTGAGAGCTCTAATGAGG -3'
Sequencing Primer
(F):5'- TGGCGAACTTGCACGATCAG -3'
(R):5'- TCTAATGAGGGCCGAGTCAGTC -3'
|
Posted On |
2016-10-24 |