Incidental Mutation 'R6786:Ano4'
| ID |
532384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
044900-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 88828732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000182341
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
| 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 null
Transcript: ENSMUST00000182598
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182613
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
| 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 null
Transcript: ENSMUST00000182790
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
C |
A |
4: 56,744,116 (GRCm39) |
Y214* |
probably null |
Het |
| Adnp2 |
A |
G |
18: 80,172,960 (GRCm39) |
V483A |
probably benign |
Het |
| Aif1 |
C |
T |
17: 35,390,472 (GRCm39) |
V93M |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,439,705 (GRCm39) |
S563P |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,752,581 (GRCm39) |
N378K |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,658,497 (GRCm39) |
C2169Y |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,852,821 (GRCm39) |
C101R |
probably damaging |
Het |
| Bcs1l |
C |
T |
1: 74,629,844 (GRCm39) |
R224C |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,951,710 (GRCm39) |
|
probably benign |
Het |
| Cbln1 |
T |
C |
8: 88,198,657 (GRCm39) |
N71S |
probably benign |
Het |
| Cdh8 |
T |
A |
8: 99,950,579 (GRCm39) |
T224S |
probably benign |
Het |
| Cdin1 |
A |
G |
2: 115,462,462 (GRCm39) |
I65V |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,956,218 (GRCm39) |
R1014W |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,887,363 (GRCm39) |
S603P |
possibly damaging |
Het |
| Chd8 |
G |
T |
14: 52,464,125 (GRCm39) |
L659I |
probably benign |
Het |
| Ckap5 |
G |
A |
2: 91,387,920 (GRCm39) |
G255D |
probably benign |
Het |
| Clec18a |
C |
A |
8: 111,807,572 (GRCm39) |
W126L |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,596,085 (GRCm39) |
N4Y |
probably damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,101,693 (GRCm39) |
Y196* |
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,468,970 (GRCm39) |
I1267F |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,949,529 (GRCm39) |
N438D |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,160,386 (GRCm39) |
H1763L |
possibly damaging |
Het |
| Elp1 |
T |
C |
4: 56,771,555 (GRCm39) |
D914G |
possibly damaging |
Het |
| Fpr-rs6 |
A |
T |
17: 20,403,100 (GRCm39) |
M87K |
possibly damaging |
Het |
| Gabrg1 |
A |
G |
5: 70,911,610 (GRCm39) |
S339P |
probably benign |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gm12695 |
A |
G |
4: 96,651,058 (GRCm39) |
S132P |
probably damaging |
Het |
| Gm3443 |
T |
A |
19: 21,533,128 (GRCm39) |
C31S |
probably damaging |
Het |
| Gzmf |
A |
T |
14: 56,444,452 (GRCm39) |
F40L |
probably benign |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,072,522 (GRCm39) |
E604G |
probably benign |
Het |
| Marveld3 |
C |
A |
8: 110,674,732 (GRCm39) |
K361N |
probably benign |
Het |
| Mgat4b |
A |
T |
11: 50,121,525 (GRCm39) |
Y47F |
probably damaging |
Het |
| Mmel1 |
G |
T |
4: 154,976,885 (GRCm39) |
E520* |
probably null |
Het |
| Msantd5f6 |
A |
T |
4: 73,321,843 (GRCm39) |
M64K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,934,057 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,027,741 (GRCm39) |
T294A |
probably benign |
Het |
| Nfix |
A |
T |
8: 85,454,276 (GRCm39) |
S219T |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,001,920 (GRCm39) |
F115L |
probably benign |
Het |
| Numa1 |
A |
C |
7: 101,641,845 (GRCm39) |
M98L |
probably benign |
Het |
| Or5b105 |
T |
C |
19: 13,080,567 (GRCm39) |
I28V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,095,151 (GRCm39) |
L303F |
possibly damaging |
Het |
| Pias4 |
G |
A |
10: 80,993,080 (GRCm39) |
T5I |
probably damaging |
Het |
| Pik3ip1 |
A |
G |
11: 3,282,124 (GRCm39) |
N68S |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,702,850 (GRCm39) |
T1029A |
probably benign |
Het |
| Recql |
A |
T |
6: 142,310,278 (GRCm39) |
D517E |
probably benign |
Het |
| Sall2 |
G |
T |
14: 52,552,078 (GRCm39) |
H372Q |
probably damaging |
Het |
| Scn8a |
A |
C |
15: 100,930,096 (GRCm39) |
I1436L |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,273,729 (GRCm39) |
|
probably null |
Het |
| Stox2 |
A |
C |
8: 47,639,500 (GRCm39) |
F898C |
probably damaging |
Het |
| Sumo2 |
A |
T |
11: 115,414,601 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
C |
T |
2: 178,025,345 (GRCm39) |
E366K |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,622,150 (GRCm39) |
K423R |
probably benign |
Het |
| Tbx21 |
T |
A |
11: 97,005,872 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
| Trav18 |
G |
A |
14: 54,069,122 (GRCm39) |
V55I |
probably benign |
Het |
| Trgc1 |
A |
T |
13: 19,400,646 (GRCm39) |
D125V |
unknown |
Het |
| Trim55 |
A |
G |
3: 19,726,938 (GRCm39) |
D335G |
probably benign |
Het |
| Trim71 |
T |
A |
9: 114,341,772 (GRCm39) |
T837S |
probably benign |
Het |
| Vmn1r56 |
T |
C |
7: 5,198,961 (GRCm39) |
T219A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,695 (GRCm39) |
T189S |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,197,461 (GRCm39) |
T146A |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,343,679 (GRCm39) |
V686A |
possibly damaging |
Het |
| Zfp65 |
T |
C |
13: 67,856,130 (GRCm39) |
H383R |
probably damaging |
Het |
| Zfp932 |
A |
G |
5: 110,157,606 (GRCm39) |
T435A |
probably damaging |
Het |
| Zfp947 |
C |
T |
17: 22,364,750 (GRCm39) |
G308D |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,771 (GRCm39) |
V417E |
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 |
|
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 |
|
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'- AAACAAGGTCCAGGAATGTCCC -3'
(R):5'- AAGGCCTTACTGGGTTTGTTCC -3'
Sequencing Primer
(F):5'- CAGGAATGTCCCTGCCTTGTG -3'
(R):5'- ATCTTCCTTCCAGATCTGCGTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation