Incidental Mutation 'R8206:Ano4'
ID |
635922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
067629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8206 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88860958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 342
(Y342H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182341
AA Change: Y342H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: Y342H
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 damaging
Transcript: ENSMUST00000182613
AA Change: Y307H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: Y307H
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: Y307H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: Y307H
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp4 |
T |
A |
18: 15,526,716 (GRCm39) |
D255V |
possibly damaging |
Het |
Arhgap26 |
C |
A |
18: 39,439,803 (GRCm39) |
S247* |
probably null |
Het |
Arid4a |
A |
G |
12: 71,133,361 (GRCm39) |
D1154G |
probably damaging |
Het |
Atpaf2 |
A |
G |
11: 60,295,304 (GRCm39) |
I182T |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,274,016 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
G |
10: 93,399,146 (GRCm39) |
S205G |
probably damaging |
Het |
Cep63 |
A |
G |
9: 102,498,470 (GRCm39) |
|
probably benign |
Het |
Cripto |
G |
A |
9: 110,773,352 (GRCm39) |
|
probably benign |
Het |
Cyp24a1 |
T |
C |
2: 170,333,589 (GRCm39) |
T255A |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,210,336 (GRCm39) |
S787P |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,014,549 (GRCm39) |
C3679* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,429,155 (GRCm39) |
Y95C |
probably damaging |
Het |
Erc2 |
G |
A |
14: 28,024,972 (GRCm39) |
|
probably null |
Het |
Ezh2 |
A |
T |
6: 47,509,834 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
A |
G |
8: 26,060,258 (GRCm39) |
T463A |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,820,808 (GRCm39) |
S5514P |
possibly damaging |
Het |
Glrb |
A |
G |
3: 80,758,373 (GRCm39) |
Y347H |
probably damaging |
Het |
Gm14325 |
C |
A |
2: 177,474,767 (GRCm39) |
C105F |
probably damaging |
Het |
Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
Ighv1-76 |
T |
C |
12: 115,811,934 (GRCm39) |
M1V |
probably null |
Het |
Inppl1 |
A |
G |
7: 101,472,783 (GRCm39) |
I1207T |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,537 (GRCm39) |
Q2191L |
probably damaging |
Het |
Krt79 |
T |
A |
15: 101,848,705 (GRCm39) |
|
probably null |
Het |
Mast4 |
G |
A |
13: 102,872,247 (GRCm39) |
L2374F |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,657,169 (GRCm39) |
N951S |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,431,344 (GRCm39) |
C1164* |
probably null |
Het |
Nfatc2ip |
G |
T |
7: 125,989,906 (GRCm39) |
D189E |
probably damaging |
Het |
Nrp1 |
A |
G |
8: 129,184,438 (GRCm39) |
D361G |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,786,374 (GRCm39) |
I293T |
probably damaging |
Het |
Pate5 |
A |
T |
9: 35,750,719 (GRCm39) |
F34L |
possibly damaging |
Het |
Pde3a |
T |
C |
6: 141,433,611 (GRCm39) |
V831A |
probably damaging |
Het |
Pirb |
A |
G |
7: 3,715,905 (GRCm39) |
|
probably null |
Het |
Plch1 |
G |
T |
3: 63,610,047 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,898,277 (GRCm39) |
T973A |
possibly damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,778,296 (GRCm39) |
I97K |
unknown |
Het |
Ppp1r3c |
C |
T |
19: 36,710,846 (GRCm39) |
G308E |
probably benign |
Het |
Prss12 |
G |
A |
3: 123,258,611 (GRCm39) |
|
probably null |
Het |
Rad51b |
A |
G |
12: 79,361,715 (GRCm39) |
D142G |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,248,745 (GRCm39) |
G553D |
probably damaging |
Het |
Spata31d1d |
A |
C |
13: 59,879,344 (GRCm39) |
V64G |
probably benign |
Het |
Srp68 |
G |
A |
11: 116,164,809 (GRCm39) |
R42C |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,062,365 (GRCm39) |
V4229A |
probably benign |
Het |
Tas2r144 |
G |
A |
6: 42,192,325 (GRCm39) |
V22M |
probably damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,604,395 (GRCm39) |
L583P |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,749,214 (GRCm39) |
D708G |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,976,627 (GRCm39) |
L98Q |
probably damaging |
Het |
Zfp677 |
T |
A |
17: 21,612,717 (GRCm39) |
|
probably null |
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 |
R8190:Ano4
|
UTSW |
10 |
88,808,607 (GRCm39) |
missense |
probably benign |
0.13 |
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'- TTAGAAGAGGCAAGCTCACC -3'
(R):5'- GGTATATAGCTATGTCCCTTCAGG -3'
Sequencing Primer
(F):5'- ACCCATGAGTTCCCCGTAC -3'
(R):5'- CTTCAGGGGCAGGGTAATCATACTC -3'
|
Posted On |
2020-07-13 |