Incidental Mutation 'R0380:Ano4'
ID |
30939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
038586-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88814675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 671
(I671T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045601
AA Change: I500T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043478 Gene: ENSMUSG00000035189 AA Change: I500T
Domain | Start | End | E-Value | Type |
Pfam:Anoct_dimer
|
16 |
165 |
2.7e-46 |
PFAM |
Pfam:Anoctamin
|
168 |
750 |
1.9e-143 |
PFAM |
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182341
AA Change: I671T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: I671T
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 |
probably benign
Transcript: ENSMUST00000182598
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182613
AA Change: I636T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: I636T
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: I636T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: I636T
Domain | Start | End | E-Value | Type |
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1832 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,538,500 (GRCm39) |
|
probably null |
Het |
Abca14 |
A |
T |
7: 119,877,703 (GRCm39) |
I1073L |
probably benign |
Het |
Adamts17 |
C |
T |
7: 66,799,792 (GRCm39) |
P1116L |
probably benign |
Het |
Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,952,773 (GRCm39) |
I233V |
probably benign |
Het |
Ap1g1 |
A |
G |
8: 110,529,796 (GRCm39) |
|
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,761,576 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
C |
T |
9: 32,157,773 (GRCm39) |
R129W |
probably damaging |
Het |
Atp10b |
G |
T |
11: 43,116,424 (GRCm39) |
A924S |
probably damaging |
Het |
Ccdc180 |
T |
A |
4: 45,930,197 (GRCm39) |
|
probably null |
Het |
Cckbr |
A |
G |
7: 105,084,198 (GRCm39) |
T311A |
probably benign |
Het |
Cr2 |
C |
T |
1: 194,839,715 (GRCm39) |
G947R |
probably damaging |
Het |
Cyp2g1 |
T |
A |
7: 26,513,720 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,857,810 (GRCm39) |
Y67H |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,715,996 (GRCm39) |
Y282* |
probably null |
Het |
Epg5 |
T |
C |
18: 78,004,056 (GRCm39) |
L688P |
probably damaging |
Het |
Esr2 |
T |
G |
12: 76,170,065 (GRCm39) |
E458A |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,463,160 (GRCm39) |
S1326P |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
Gpr12 |
T |
A |
5: 146,520,146 (GRCm39) |
T259S |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,723,584 (GRCm39) |
C625S |
possibly damaging |
Het |
H2-Q1 |
C |
T |
17: 35,542,054 (GRCm39) |
H209Y |
probably damaging |
Het |
Hcfc2 |
C |
A |
10: 82,564,272 (GRCm39) |
|
probably benign |
Het |
Itgal |
C |
A |
7: 126,909,923 (GRCm39) |
Y495* |
probably null |
Het |
Kbtbd3 |
T |
A |
9: 4,330,545 (GRCm39) |
Y306* |
probably null |
Het |
Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
Kif1a |
T |
A |
1: 92,983,753 (GRCm39) |
|
probably null |
Het |
Maml2 |
C |
T |
9: 13,532,396 (GRCm39) |
R537* |
probably null |
Het |
Muc4 |
G |
A |
16: 32,574,333 (GRCm39) |
A928T |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,594,740 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
T |
2: 52,122,214 (GRCm39) |
M605K |
probably damaging |
Het |
Or2c1 |
A |
T |
16: 3,656,849 (GRCm39) |
D4V |
probably benign |
Het |
Pcdhb3 |
T |
G |
18: 37,435,210 (GRCm39) |
I392S |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,101,371 (GRCm39) |
T2292A |
probably damaging |
Het |
Rbbp8nl |
A |
T |
2: 179,923,512 (GRCm39) |
M108K |
probably damaging |
Het |
Rbm25 |
A |
G |
12: 83,707,130 (GRCm39) |
T259A |
probably benign |
Het |
Recql |
C |
A |
6: 142,315,156 (GRCm39) |
R243L |
probably damaging |
Het |
Rsf1 |
TGGCG |
TGGCGACGGCGGCG |
7: 97,229,112 (GRCm39) |
|
probably benign |
Het |
Serpinb12 |
T |
C |
1: 106,878,551 (GRCm39) |
|
probably null |
Het |
Slc16a14 |
T |
A |
1: 84,907,251 (GRCm39) |
I8F |
possibly damaging |
Het |
Spef1 |
G |
T |
2: 131,014,332 (GRCm39) |
|
probably benign |
Het |
Tas2r103 |
A |
G |
6: 133,013,166 (GRCm39) |
L300P |
probably damaging |
Het |
Tas2r117 |
A |
T |
6: 132,780,551 (GRCm39) |
R230* |
probably null |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Thnsl2 |
A |
T |
6: 71,118,314 (GRCm39) |
L38Q |
probably damaging |
Het |
Tmem171 |
G |
T |
13: 98,828,535 (GRCm39) |
T205K |
possibly damaging |
Het |
Tmem232 |
A |
T |
17: 65,563,443 (GRCm39) |
L650Q |
probably benign |
Het |
Tpr |
T |
A |
1: 150,288,698 (GRCm39) |
D518E |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,713,423 (GRCm39) |
V442A |
probably damaging |
Het |
Tshz3 |
A |
T |
7: 36,470,725 (GRCm39) |
I905F |
probably damaging |
Het |
Vmn1r66 |
C |
T |
7: 10,008,670 (GRCm39) |
C121Y |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,096,832 (GRCm39) |
Q322R |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,597,208 (GRCm39) |
|
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 |
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 |
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'- CGTTGGAAAGCCCTCACCAGAATC -3'
(R):5'- ACCCTTGAATGTCCAAGGTGTTGC -3'
Sequencing Primer
(F):5'- CAGAATCCTCTTACATGAATGGC -3'
(R):5'- CGACCCATGATGCTCTCAG -3'
|
Posted On |
2013-04-24 |