Incidental Mutation 'R6036:Ano4'
ID |
479222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
043257-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6036 (G1)
|
Quality Score |
218.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88818127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 588
(W588R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182341
AA Change: W588R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: W588R
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
339 |
922 |
4.8e-162 |
PFAM |
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182462
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182598
AA Change: W103R
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182613
AA Change: W553R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: W553R
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182790
AA Change: W553R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: W553R
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3 |
T |
C |
11: 95,723,684 (GRCm39) |
|
probably benign |
Het |
Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,743,005 (GRCm39) |
V941M |
probably benign |
Het |
Atp6v1a |
A |
G |
16: 43,919,194 (GRCm39) |
Y464H |
probably benign |
Het |
Barx2 |
A |
T |
9: 31,824,304 (GRCm39) |
D28E |
probably damaging |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Col10a1 |
A |
G |
10: 34,271,278 (GRCm39) |
T417A |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Eif4enif1 |
T |
C |
11: 3,189,420 (GRCm39) |
S227P |
probably damaging |
Het |
Erv3 |
G |
A |
2: 131,697,925 (GRCm39) |
H145Y |
possibly damaging |
Het |
Exoc5 |
T |
C |
14: 49,251,779 (GRCm39) |
T591A |
possibly damaging |
Het |
F5 |
A |
T |
1: 164,012,565 (GRCm39) |
E493V |
probably damaging |
Het |
Gm8444 |
G |
T |
15: 81,727,794 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
A |
9: 4,537,646 (GRCm39) |
I221L |
probably benign |
Het |
H2bc13 |
A |
T |
13: 21,900,148 (GRCm39) |
S56T |
probably damaging |
Het |
Hc |
T |
C |
2: 34,929,696 (GRCm39) |
T249A |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,717,801 (GRCm39) |
T48A |
probably benign |
Het |
Hp |
A |
G |
8: 110,303,406 (GRCm39) |
|
probably null |
Het |
Ifna15 |
T |
G |
4: 88,476,310 (GRCm39) |
D58A |
possibly damaging |
Het |
Kcnj1 |
A |
T |
9: 32,308,421 (GRCm39) |
M262L |
probably benign |
Het |
Krt87 |
A |
C |
15: 101,385,412 (GRCm39) |
I320S |
possibly damaging |
Het |
Megf10 |
A |
G |
18: 57,375,799 (GRCm39) |
N242D |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,157,895 (GRCm39) |
T451A |
probably benign |
Het |
Or2ag2b |
A |
T |
7: 106,417,667 (GRCm39) |
I126F |
probably damaging |
Het |
Or4g7 |
T |
C |
2: 111,309,333 (GRCm39) |
L68P |
probably damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,957 (GRCm39) |
G252R |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
Or8d23 |
A |
G |
9: 38,842,216 (GRCm39) |
I250V |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,293,641 (GRCm39) |
P403S |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,248,019 (GRCm39) |
Q494* |
probably null |
Het |
Plag1 |
T |
C |
4: 3,904,618 (GRCm39) |
E191G |
possibly damaging |
Het |
Pou4f2 |
A |
T |
8: 79,162,103 (GRCm39) |
S167T |
probably damaging |
Het |
Scd4 |
G |
A |
19: 44,333,231 (GRCm39) |
D319N |
probably damaging |
Het |
Senp2 |
A |
T |
16: 21,847,308 (GRCm39) |
R279* |
probably null |
Het |
Sh3rf3 |
G |
A |
10: 58,649,806 (GRCm39) |
G137D |
probably benign |
Het |
Simc1 |
C |
T |
13: 54,672,434 (GRCm39) |
P261S |
probably benign |
Het |
Slc26a1 |
T |
A |
5: 108,821,436 (GRCm39) |
D151V |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,556,301 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
T |
2: 120,530,556 (GRCm39) |
A2271V |
probably benign |
Het |
Stat6 |
A |
G |
10: 127,491,313 (GRCm39) |
N485D |
possibly damaging |
Het |
Tpcn2 |
T |
C |
7: 144,822,606 (GRCm39) |
T280A |
possibly damaging |
Het |
Ttc23 |
A |
G |
7: 67,361,114 (GRCm39) |
I378V |
possibly damaging |
Het |
Ttc29 |
A |
G |
8: 79,052,205 (GRCm39) |
D362G |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,645,917 (GRCm39) |
I592V |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,306,172 (GRCm39) |
H107L |
probably benign |
Het |
Vmn1r70 |
A |
G |
7: 10,367,830 (GRCm39) |
Q87R |
probably damaging |
Het |
Wdfy4 |
G |
T |
14: 32,868,947 (GRCm39) |
S360R |
probably damaging |
Het |
Zfp780b |
A |
G |
7: 27,662,993 (GRCm39) |
Y521H |
probably damaging |
Het |
|
Other mutations in Ano4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00642:Ano4
|
APN |
10 |
88,790,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00916:Ano4
|
APN |
10 |
88,833,960 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01010:Ano4
|
APN |
10 |
88,796,462 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01015:Ano4
|
APN |
10 |
88,870,961 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01877:Ano4
|
APN |
10 |
88,860,932 (GRCm39) |
nonsense |
probably null |
0.00 |
IGL02310:Ano4
|
APN |
10 |
88,859,740 (GRCm39) |
nonsense |
probably null |
|
IGL02390:Ano4
|
APN |
10 |
88,860,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02560:Ano4
|
APN |
10 |
88,814,603 (GRCm39) |
nonsense |
probably null |
|
Dwindle
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
BB007:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
BB017:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
P0017:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
PIT4486001:Ano4
|
UTSW |
10 |
88,828,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0126:Ano4
|
UTSW |
10 |
88,788,154 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0380:Ano4
|
UTSW |
10 |
88,814,675 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0508:Ano4
|
UTSW |
10 |
88,816,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Ano4
|
UTSW |
10 |
88,859,806 (GRCm39) |
missense |
probably benign |
0.00 |
R1802:Ano4
|
UTSW |
10 |
88,816,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Ano4
|
UTSW |
10 |
88,807,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Ano4
|
UTSW |
10 |
88,828,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R2829:Ano4
|
UTSW |
10 |
88,948,801 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2880:Ano4
|
UTSW |
10 |
88,948,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R3846:Ano4
|
UTSW |
10 |
88,831,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3904:Ano4
|
UTSW |
10 |
88,860,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R4006:Ano4
|
UTSW |
10 |
88,924,125 (GRCm39) |
missense |
probably benign |
0.18 |
R4429:Ano4
|
UTSW |
10 |
88,828,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R4547:Ano4
|
UTSW |
10 |
88,817,032 (GRCm39) |
missense |
probably null |
|
R4638:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R4640:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:Ano4
|
UTSW |
10 |
88,948,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5007:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.26 |
R5104:Ano4
|
UTSW |
10 |
88,903,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5151:Ano4
|
UTSW |
10 |
88,948,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R5215:Ano4
|
UTSW |
10 |
89,153,165 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5396:Ano4
|
UTSW |
10 |
88,948,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5826:Ano4
|
UTSW |
10 |
88,788,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R6018:Ano4
|
UTSW |
10 |
88,865,128 (GRCm39) |
missense |
probably benign |
0.01 |
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6222:Ano4
|
UTSW |
10 |
88,863,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R6387:Ano4
|
UTSW |
10 |
88,807,267 (GRCm39) |
nonsense |
probably null |
|
R6521:Ano4
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
R6739:Ano4
|
UTSW |
10 |
88,863,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6786:Ano4
|
UTSW |
10 |
88,828,732 (GRCm39) |
splice site |
probably null |
|
R7035:Ano4
|
UTSW |
10 |
88,790,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R7523:Ano4
|
UTSW |
10 |
88,807,257 (GRCm39) |
nonsense |
probably null |
|
R7715:Ano4
|
UTSW |
10 |
88,831,173 (GRCm39) |
missense |
probably damaging |
0.99 |
R7930:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7955:Ano4
|
UTSW |
10 |
88,831,088 (GRCm39) |
missense |
probably null |
0.45 |
R7975:Ano4
|
UTSW |
10 |
88,952,847 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8005:Ano4
|
UTSW |
10 |
88,807,183 (GRCm39) |
missense |
probably benign |
0.04 |
R8024:Ano4
|
UTSW |
10 |
88,807,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R8168:Ano4
|
UTSW |
10 |
88,816,857 (GRCm39) |
missense |
probably damaging |
0.96 |
R8190:Ano4
|
UTSW |
10 |
88,808,607 (GRCm39) |
missense |
probably benign |
0.13 |
R8206:Ano4
|
UTSW |
10 |
88,860,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R8252:Ano4
|
UTSW |
10 |
88,816,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R8285:Ano4
|
UTSW |
10 |
88,904,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R8917:Ano4
|
UTSW |
10 |
88,788,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R9302:Ano4
|
UTSW |
10 |
88,831,220 (GRCm39) |
missense |
probably benign |
0.00 |
R9688:Ano4
|
UTSW |
10 |
89,180,506 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
T0970:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
Z1176:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.37 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |