Incidental Mutation 'R1802:Ano4'
| ID |
203223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
039832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1802 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88816878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 610
(D610V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045601
AA Change: D474V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189
AA Change: D474V
| 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 |
probably damaging
Transcript: ENSMUST00000182341
AA Change: D645V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: D645V
| 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 |
probably damaging
Transcript: ENSMUST00000182613
AA Change: D610V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: D610V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182790
AA Change: D610V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: D610V
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcd2 |
G |
T |
15: 91,047,305 (GRCm39) |
R583S |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,993,029 (GRCm39) |
F492Y |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,922,366 (GRCm39) |
|
probably null |
Het |
| Atxn7 |
T |
G |
14: 14,089,419 (GRCm38) |
S312A |
probably benign |
Het |
| Azgp1 |
A |
G |
5: 137,983,493 (GRCm39) |
Y56C |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,900,415 (GRCm39) |
V606A |
possibly damaging |
Het |
| Btnl9 |
T |
A |
11: 49,066,617 (GRCm39) |
I335F |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,267,940 (GRCm39) |
R9G |
probably damaging |
Het |
| Cdyl |
T |
A |
13: 36,056,619 (GRCm39) |
L534* |
probably null |
Het |
| Celf2 |
T |
C |
2: 6,554,744 (GRCm39) |
E445G |
probably damaging |
Het |
| Cfap97d1 |
T |
A |
11: 101,879,302 (GRCm39) |
Y25N |
possibly damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,866 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Cnot8 |
T |
C |
11: 58,008,361 (GRCm39) |
C276R |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,844,597 (GRCm39) |
I1135V |
possibly damaging |
Het |
| Edc3 |
A |
G |
9: 57,634,598 (GRCm39) |
D205G |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Fancl |
T |
G |
11: 26,409,709 (GRCm39) |
S188R |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,186,048 (GRCm39) |
K1767* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,264 (GRCm39) |
H154Q |
probably damaging |
Het |
| Gm19965 |
C |
T |
1: 116,748,633 (GRCm39) |
R105* |
probably null |
Het |
| Grhpr |
C |
A |
4: 44,988,950 (GRCm39) |
Y202* |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,834,080 (GRCm39) |
E3095G |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,502,447 (GRCm39) |
N89Y |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,483,625 (GRCm39) |
D261G |
probably benign |
Het |
| Jmjd7 |
C |
T |
2: 119,860,589 (GRCm39) |
L39F |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,993,871 (GRCm39) |
I360F |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,760,866 (GRCm39) |
Q828R |
unknown |
Het |
| Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
| Mios |
T |
A |
6: 8,216,385 (GRCm39) |
Y436* |
probably null |
Het |
| Mprip |
C |
T |
11: 59,645,867 (GRCm39) |
L684F |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
| Naga |
C |
T |
15: 82,221,669 (GRCm39) |
R24Q |
probably benign |
Het |
| Nr2c1 |
G |
A |
10: 93,999,648 (GRCm39) |
V103M |
possibly damaging |
Het |
| Oca2 |
A |
G |
7: 55,904,728 (GRCm39) |
S65G |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,854 (GRCm39) |
I54V |
probably benign |
Het |
| Phyhipl |
A |
T |
10: 70,434,855 (GRCm39) |
I28N |
probably benign |
Het |
| Pik3cb |
C |
A |
9: 98,983,342 (GRCm39) |
E89* |
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,361,658 (GRCm39) |
S262T |
probably benign |
Het |
| Ppm1a |
T |
A |
12: 72,840,481 (GRCm39) |
|
probably null |
Het |
| Relt |
T |
C |
7: 100,499,401 (GRCm39) |
I173V |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,526,919 (GRCm39) |
S1370T |
possibly damaging |
Het |
| Rps7 |
G |
A |
12: 28,684,258 (GRCm39) |
R81C |
probably benign |
Het |
| Saa3 |
T |
C |
7: 46,361,550 (GRCm39) |
*123W |
probably null |
Het |
| Serpina3b |
C |
A |
12: 104,104,896 (GRCm39) |
H357Q |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,378,644 (GRCm39) |
N493K |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,070,197 (GRCm39) |
Y782H |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,878,646 (GRCm39) |
D166G |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,771,835 (GRCm39) |
M9K |
probably benign |
Het |
| Tmem269 |
A |
T |
4: 119,068,070 (GRCm39) |
|
probably null |
Het |
| Tnxb |
C |
A |
17: 34,922,863 (GRCm39) |
P2482Q |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,940 (GRCm39) |
V291A |
possibly damaging |
Het |
| Zfp930 |
G |
T |
8: 69,679,046 (GRCm39) |
A18S |
possibly damaging |
Het |
| Zup1 |
A |
T |
10: 33,819,714 (GRCm39) |
V200D |
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 |
|
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'- CTGCCCTTGAATCTGCATGTG -3'
(R):5'- TCTGTGTTGAAGATTTACAGGACAC -3'
Sequencing Primer
(F):5'- CCTTGAATCTGCATGTGACATACTGG -3'
(R):5'- ACCCAGGTGCCTACTTGAGATTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation