Incidental Mutation 'R6387:Ano4'
ID |
514664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
044536-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 88807267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 736
(Y736*)
|
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
AA Change: Y771*
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: Y771*
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: ENSMUST00000182613
AA Change: Y736*
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: Y736*
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
AA Change: Y736*
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: Y736*
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 |
0.9754 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
C |
5: 109,884,881 (GRCm39) |
K326E |
possibly damaging |
Het |
Acot1 |
A |
G |
12: 84,056,627 (GRCm39) |
D115G |
probably benign |
Het |
Adm |
T |
C |
7: 110,227,502 (GRCm39) |
I6T |
possibly damaging |
Het |
Ahi1 |
A |
G |
10: 20,844,942 (GRCm39) |
Y349C |
probably damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,595,323 (GRCm39) |
E84G |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,967,081 (GRCm39) |
D520G |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,907,806 (GRCm39) |
F612S |
possibly damaging |
Het |
Bltp3b |
C |
T |
10: 89,638,919 (GRCm39) |
Q442* |
probably null |
Het |
Calcb |
G |
A |
7: 114,319,025 (GRCm39) |
V17I |
possibly damaging |
Het |
Cfap70 |
C |
T |
14: 20,498,643 (GRCm39) |
V15M |
probably damaging |
Het |
Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
Csgalnact1 |
C |
T |
8: 68,811,365 (GRCm39) |
G435D |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,119,281 (GRCm39) |
M487K |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,037,934 (GRCm39) |
E3862G |
probably damaging |
Het |
Gdf10 |
T |
A |
14: 33,645,961 (GRCm39) |
S37T |
probably benign |
Het |
Hhatl |
T |
A |
9: 121,619,467 (GRCm39) |
H39L |
probably benign |
Het |
Icam4 |
A |
C |
9: 20,941,505 (GRCm39) |
S215R |
possibly damaging |
Het |
Ighv1-18 |
T |
C |
12: 114,646,280 (GRCm39) |
E108G |
probably damaging |
Het |
Iqcd |
T |
C |
5: 120,744,920 (GRCm39) |
I416T |
probably benign |
Het |
Marf1 |
T |
A |
16: 13,959,504 (GRCm39) |
*577L |
probably null |
Het |
Mark2 |
A |
G |
19: 7,263,267 (GRCm39) |
F167L |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,299,946 (GRCm39) |
T351A |
possibly damaging |
Het |
Mrps27 |
A |
G |
13: 99,536,825 (GRCm39) |
I113V |
possibly damaging |
Het |
Numbl |
C |
T |
7: 26,976,115 (GRCm39) |
T265I |
probably damaging |
Het |
Obsl1 |
C |
T |
1: 75,468,006 (GRCm39) |
A1296T |
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,912,148 (GRCm39) |
I125T |
probably damaging |
Het |
Pcdhb21 |
A |
G |
18: 37,648,385 (GRCm39) |
I505V |
probably benign |
Het |
Pfas |
A |
G |
11: 68,891,291 (GRCm39) |
F269L |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,516,679 (GRCm39) |
V1018I |
probably benign |
Het |
Prl4a1 |
T |
A |
13: 28,202,482 (GRCm39) |
V19E |
possibly damaging |
Het |
Ptpn22 |
A |
G |
3: 103,792,702 (GRCm39) |
D327G |
probably benign |
Het |
Smad3 |
G |
T |
9: 63,562,047 (GRCm39) |
D310E |
probably benign |
Het |
Sparcl1 |
T |
A |
5: 104,232,926 (GRCm39) |
D625V |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,058,899 (GRCm39) |
A1945T |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Sympk |
T |
C |
7: 18,786,423 (GRCm39) |
Y1009H |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,752,825 (GRCm39) |
F1026L |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,365,554 (GRCm39) |
K144* |
probably null |
Het |
Unk |
A |
G |
11: 115,945,766 (GRCm39) |
N479S |
possibly damaging |
Het |
Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
Zfp993 |
A |
G |
4: 146,741,975 (GRCm39) |
T100A |
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 |
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'- CCATGCAATGGCTAAGAAATGG -3'
(R):5'- CCCCAAGCCATGAGTACATTG -3'
Sequencing Primer
(F):5'- TGCAATGGCTAAGAAATGGAAGTTTC -3'
(R):5'- GCCATGAGTACATTGGTATATGCAC -3'
|
Posted On |
2018-05-04 |