Incidental Mutation 'R9688:Ano4'
ID |
728990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9688 (G1)
|
Quality Score |
150.008 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 89180506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182419]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000182419
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000138435 Gene: ENSMUSG00000035189 AA Change: M1K
Domain | Start | End | E-Value | Type |
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
G |
11: 23,469,067 (GRCm39) |
|
probably null |
Het |
Abca2 |
G |
C |
2: 25,324,459 (GRCm39) |
A272P |
possibly damaging |
Het |
Adarb1 |
T |
A |
10: 77,147,099 (GRCm39) |
D479V |
probably damaging |
Het |
Amz2 |
T |
C |
11: 109,320,765 (GRCm39) |
F162S |
probably damaging |
Het |
Antxr1 |
G |
A |
6: 87,114,334 (GRCm39) |
R478C |
probably damaging |
Het |
Apobr |
T |
C |
7: 126,186,663 (GRCm39) |
S725P |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,872,109 (GRCm39) |
D506E |
probably damaging |
Het |
Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
Camk1g |
T |
A |
1: 193,031,029 (GRCm39) |
R305W |
probably damaging |
Het |
Ces2g |
A |
T |
8: 105,691,304 (GRCm39) |
I147F |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,878,758 (GRCm39) |
F505L |
probably damaging |
Het |
Cndp1 |
G |
C |
18: 84,655,982 (GRCm39) |
N62K |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,916,528 (GRCm39) |
Q214K |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,055,276 (GRCm39) |
Y226* |
probably null |
Het |
Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
Ercc6 |
A |
C |
14: 32,297,755 (GRCm39) |
H1334P |
probably benign |
Het |
Ern1 |
T |
C |
11: 106,349,836 (GRCm39) |
T27A |
possibly damaging |
Het |
Esf1 |
A |
T |
2: 140,010,095 (GRCm39) |
D80E |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,124,986 (GRCm39) |
K159E |
probably damaging |
Het |
Gbx1 |
T |
C |
5: 24,731,510 (GRCm39) |
Y102C |
probably damaging |
Het |
Gjd2 |
A |
G |
2: 113,842,109 (GRCm39) |
S123P |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,859,054 (GRCm39) |
Y198C |
probably damaging |
Het |
Hps1 |
A |
C |
19: 42,755,147 (GRCm39) |
V265G |
probably benign |
Het |
Ifna16 |
C |
A |
4: 88,594,874 (GRCm39) |
E74* |
probably null |
Het |
Inca1 |
C |
T |
11: 70,579,810 (GRCm39) |
|
probably null |
Het |
Jag2 |
A |
G |
12: 112,872,564 (GRCm39) |
V1230A |
probably benign |
Het |
Jam3 |
G |
A |
9: 27,010,204 (GRCm39) |
T260M |
probably benign |
Het |
Klhl5 |
A |
T |
5: 65,321,930 (GRCm39) |
D652V |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,790,697 (GRCm39) |
I81L |
possibly damaging |
Het |
Lgalsl |
C |
T |
11: 20,779,442 (GRCm39) |
A68T |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,130,059 (GRCm39) |
D286V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,745,590 (GRCm39) |
I4083V |
probably damaging |
Het |
Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
Mtcl3 |
T |
C |
10: 29,072,691 (GRCm39) |
V661A |
possibly damaging |
Het |
Naa16 |
A |
T |
14: 79,573,309 (GRCm39) |
Y820* |
probably null |
Het |
Nbea |
G |
T |
3: 55,557,165 (GRCm39) |
N2537K |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,967,349 (GRCm39) |
S562G |
probably benign |
Het |
Or5t5 |
A |
C |
2: 86,617,005 (GRCm39) |
K310N |
probably damaging |
Het |
Or6c1b |
C |
A |
10: 129,272,967 (GRCm39) |
C95* |
probably null |
Het |
Pcdhac2 |
A |
G |
18: 37,277,628 (GRCm39) |
S203G |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,812,196 (GRCm39) |
F309I |
probably benign |
Het |
Pdzd8 |
G |
A |
19: 59,333,683 (GRCm39) |
L113F |
probably benign |
Het |
Pex12 |
T |
C |
11: 83,189,257 (GRCm39) |
Y4C |
possibly damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,318,448 (GRCm39) |
D332G |
probably benign |
Het |
Psg23 |
A |
T |
7: 18,344,547 (GRCm39) |
W303R |
probably damaging |
Het |
Pyy |
T |
A |
11: 101,998,099 (GRCm39) |
D27V |
probably damaging |
Het |
Rc3h1 |
A |
G |
1: 160,770,234 (GRCm39) |
Q302R |
probably damaging |
Het |
Rhoh |
A |
G |
5: 66,049,656 (GRCm39) |
|
probably benign |
Het |
Samd9l |
A |
G |
6: 3,377,087 (GRCm39) |
M58T |
probably damaging |
Het |
Scaf11 |
A |
C |
15: 96,313,808 (GRCm39) |
H1324Q |
probably damaging |
Het |
Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
Setx |
A |
T |
2: 29,036,328 (GRCm39) |
S938C |
probably damaging |
Het |
Sgo2a |
A |
T |
1: 58,056,737 (GRCm39) |
T974S |
probably damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,679,348 (GRCm39) |
V130A |
probably benign |
Het |
Slc43a2 |
T |
C |
11: 75,434,112 (GRCm39) |
F97L |
probably damaging |
Het |
Slc9a9 |
C |
A |
9: 95,111,107 (GRCm39) |
Q642K |
probably benign |
Het |
Sox6 |
G |
T |
7: 115,076,225 (GRCm39) |
D804E |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,233,708 (GRCm39) |
R290S |
possibly damaging |
Het |
Tent4a |
A |
G |
13: 69,655,199 (GRCm39) |
L425P |
probably damaging |
Het |
Terf2 |
A |
G |
8: 107,821,543 (GRCm39) |
S176P |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,720,602 (GRCm39) |
H956L |
possibly damaging |
Het |
Tti2 |
T |
C |
8: 31,644,279 (GRCm39) |
V292A |
probably damaging |
Het |
Vmn1r29 |
A |
T |
6: 58,284,739 (GRCm39) |
E153V |
probably benign |
Het |
Vmn1r55 |
G |
T |
7: 5,149,669 (GRCm39) |
H251Q |
probably benign |
Het |
Yeats4 |
T |
C |
10: 117,051,586 (GRCm39) |
T224A |
probably benign |
Het |
Yipf4 |
T |
A |
17: 74,806,078 (GRCm39) |
F239Y |
probably benign |
Het |
Zan |
T |
C |
5: 137,466,717 (GRCm39) |
D380G |
probably damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,894 (GRCm39) |
F433S |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,701,435 (GRCm39) |
K432R |
unknown |
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 |
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 |
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 |
PCR Primer
(F):5'- AAGCATCCTCTCTGTGCAGC -3'
(R):5'- CAGGTCAGGGAAGCAGTGTTTG -3'
Sequencing Primer
(F):5'- ATCCTCTCTGTGCAGCGGATG -3'
(R):5'- GAAGCAGTGTTTGGCTCCCATC -3'
|
Posted On |
2022-10-06 |