Incidental Mutation 'R8190:Ano4'
ID |
635093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
067613-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8190 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88808607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 766
(D766N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000182341
AA Change: D766N
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: D766N
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 |
possibly damaging
Transcript: ENSMUST00000182613
AA Change: D731N
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: D731N
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: D731N
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: D731N
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
C |
14: 29,706,030 (GRCm39) |
V113A |
possibly damaging |
Het |
Adcy7 |
A |
G |
8: 89,037,666 (GRCm39) |
M245V |
possibly damaging |
Het |
Adgra1 |
G |
T |
7: 139,456,034 (GRCm39) |
R554L |
probably benign |
Het |
Agfg2 |
T |
A |
5: 137,653,664 (GRCm39) |
M351L |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,979,619 (GRCm39) |
G301D |
probably benign |
Het |
Ambra1 |
C |
T |
2: 91,602,697 (GRCm39) |
A227V |
possibly damaging |
Het |
Ankrd24 |
T |
A |
10: 81,474,152 (GRCm39) |
D166E |
unknown |
Het |
Anks1 |
C |
T |
17: 28,205,778 (GRCm39) |
P341S |
probably benign |
Het |
Apol7e |
A |
T |
15: 77,602,007 (GRCm39) |
T202S |
possibly damaging |
Het |
Arhgap44 |
C |
A |
11: 64,929,479 (GRCm39) |
C275F |
probably damaging |
Het |
Arl6ip4 |
A |
C |
5: 124,255,095 (GRCm39) |
K95T |
probably damaging |
Het |
Bbs9 |
T |
C |
9: 22,590,284 (GRCm39) |
L674P |
probably damaging |
Het |
Bmp4 |
T |
A |
14: 46,621,972 (GRCm39) |
M191L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,787,090 (GRCm39) |
L2753P |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,163,901 (GRCm39) |
H473L |
probably benign |
Het |
Cfap99 |
A |
T |
5: 34,482,502 (GRCm39) |
T538S |
possibly damaging |
Het |
Clock |
A |
T |
5: 76,375,051 (GRCm39) |
V706E |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,749,485 (GRCm39) |
M15T |
probably benign |
Het |
Deaf1 |
T |
C |
7: 140,894,324 (GRCm39) |
D351G |
probably damaging |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Eif3j1 |
A |
T |
2: 121,877,969 (GRCm39) |
D119V |
probably damaging |
Het |
Eps8l1 |
C |
A |
7: 4,474,297 (GRCm39) |
S195Y |
probably benign |
Het |
Exosc5 |
T |
C |
7: 25,365,769 (GRCm39) |
|
probably null |
Het |
Fabp2 |
A |
T |
3: 122,690,419 (GRCm39) |
H34L |
probably benign |
Het |
Fbln5 |
T |
A |
12: 101,723,555 (GRCm39) |
Q382L |
probably damaging |
Het |
Fbxo34 |
C |
A |
14: 47,767,879 (GRCm39) |
T464K |
possibly damaging |
Het |
Fndc8 |
T |
G |
11: 82,788,686 (GRCm39) |
V172G |
probably damaging |
Het |
Frs2 |
C |
T |
10: 116,910,784 (GRCm39) |
V193I |
possibly damaging |
Het |
Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
Gprin3 |
A |
G |
6: 59,331,456 (GRCm39) |
S284P |
possibly damaging |
Het |
Gsta4 |
T |
C |
9: 78,105,654 (GRCm39) |
V28A |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,325,733 (GRCm39) |
D1402E |
probably benign |
Het |
Hipk2 |
A |
T |
6: 38,795,728 (GRCm39) |
S180R |
possibly damaging |
Het |
Hrg |
A |
T |
16: 22,779,793 (GRCm39) |
H357L |
unknown |
Het |
Htr4 |
A |
G |
18: 62,570,971 (GRCm39) |
Q342R |
possibly damaging |
Het |
Impa1 |
A |
G |
3: 10,386,688 (GRCm39) |
S184P |
possibly damaging |
Het |
Iqgap3 |
A |
T |
3: 87,998,086 (GRCm39) |
Q281L |
probably damaging |
Het |
Kcnh8 |
C |
T |
17: 53,263,936 (GRCm39) |
P811L |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,599,003 (GRCm39) |
I628V |
|
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Mfn1 |
A |
T |
3: 32,622,538 (GRCm39) |
I599F |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,837,351 (GRCm39) |
R4S |
possibly damaging |
Het |
Nbeal2 |
C |
T |
9: 110,455,158 (GRCm39) |
R2580Q |
probably benign |
Het |
Nlrp4b |
A |
G |
7: 10,448,319 (GRCm39) |
N174S |
probably damaging |
Het |
Or3a4 |
T |
A |
11: 73,945,305 (GRCm39) |
R93S |
probably benign |
Het |
Or4q3 |
A |
T |
14: 50,583,179 (GRCm39) |
V240D |
probably damaging |
Het |
Or52a5 |
A |
T |
7: 103,426,802 (GRCm39) |
V250D |
probably damaging |
Het |
Or5p63 |
A |
G |
7: 107,811,014 (GRCm39) |
F241L |
possibly damaging |
Het |
Pabpc2 |
G |
A |
18: 39,908,520 (GRCm39) |
R595Q |
probably benign |
Het |
Pak6 |
C |
T |
2: 118,520,578 (GRCm39) |
Q190* |
probably null |
Het |
Pds5a |
A |
T |
5: 65,781,341 (GRCm39) |
H1046Q |
probably damaging |
Het |
Plin1 |
A |
G |
7: 79,373,028 (GRCm39) |
S314P |
probably benign |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Ptpra |
G |
A |
2: 30,328,351 (GRCm39) |
S224N |
probably damaging |
Het |
Rbp1 |
T |
G |
9: 98,326,709 (GRCm39) |
W107G |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,189,617 (GRCm39) |
N61D |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 110,031,602 (GRCm39) |
D783E |
probably benign |
Het |
Sufu |
G |
T |
19: 46,389,636 (GRCm39) |
E86* |
probably null |
Het |
Synm |
A |
T |
7: 67,383,654 (GRCm39) |
M1336K |
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,942,341 (GRCm39) |
G670D |
probably damaging |
Het |
Tmc8 |
T |
G |
11: 117,682,186 (GRCm39) |
|
probably null |
Het |
Togaram1 |
T |
C |
12: 65,053,686 (GRCm39) |
V1322A |
probably damaging |
Het |
Uxs1 |
A |
T |
1: 43,810,911 (GRCm39) |
I225K |
possibly damaging |
Het |
Vil1 |
G |
T |
1: 74,474,052 (GRCm39) |
E796* |
probably null |
Het |
Vmn1r174 |
T |
C |
7: 23,453,568 (GRCm39) |
F78S |
probably damaging |
Het |
Vps13d |
T |
A |
4: 144,879,321 (GRCm39) |
I1501F |
|
Het |
Vps8 |
A |
T |
16: 21,393,780 (GRCm39) |
T1216S |
possibly damaging |
Het |
Yipf4 |
G |
T |
17: 74,800,967 (GRCm39) |
R95L |
probably damaging |
Het |
Zan |
T |
A |
5: 137,465,346 (GRCm39) |
T470S |
probably damaging |
Het |
Zfp113 |
G |
T |
5: 138,143,258 (GRCm39) |
H331N |
probably damaging |
Het |
Zfp62 |
A |
G |
11: 49,106,902 (GRCm39) |
Y331C |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,327,610 (GRCm39) |
H580R |
probably benign |
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 |
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 |
PCR Primer
(F):5'- CAGCTCTCATGAAACCTTGAGG -3'
(R):5'- TCTCTTTGAAACAACCATGGGAAAC -3'
Sequencing Primer
(F):5'- AGACAGGGTCTTACTATGTAGCCC -3'
(R):5'- ACAACCATGGGAAACTAACATTATTC -3'
|
Posted On |
2020-07-13 |