Incidental Mutation 'R5215:Ano4'
ID |
403430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
042788-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5215 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89153165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 49
(H49R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182419]
[ENSMUST00000182624]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182419
AA Change: H49R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138435 Gene: ENSMUSG00000035189 AA Change: H49R
Domain | Start | End | E-Value | Type |
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182624
|
SMART Domains |
Protein: ENSMUSP00000138525 Gene: ENSMUSG00000035189
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0835 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (79/79) |
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 |
Alas1 |
C |
A |
9: 106,120,574 (GRCm39) |
A73S |
probably benign |
Het |
Aldoart2 |
G |
A |
12: 55,612,204 (GRCm39) |
R43Q |
probably benign |
Het |
Atic |
T |
C |
1: 71,603,666 (GRCm39) |
S161P |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,341,659 (GRCm39) |
E244G |
probably benign |
Het |
Cd164l2 |
C |
A |
4: 132,948,789 (GRCm39) |
L42I |
unknown |
Het |
Cdc42ep2 |
T |
C |
19: 5,968,238 (GRCm39) |
R156G |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cdk5 |
T |
A |
5: 24,624,459 (GRCm39) |
N265I |
probably benign |
Het |
Cfap69 |
G |
T |
5: 5,639,133 (GRCm39) |
N262K |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,791,873 (GRCm39) |
V2495M |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,205,539 (GRCm39) |
F521I |
possibly damaging |
Het |
Crb2 |
A |
G |
2: 37,683,765 (GRCm39) |
E1089G |
probably benign |
Het |
Decr1 |
T |
C |
4: 15,929,795 (GRCm39) |
D166G |
probably damaging |
Het |
Dhodh |
G |
A |
8: 110,332,975 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
G |
A |
5: 139,147,632 (GRCm39) |
V399I |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,121,096 (GRCm39) |
T526A |
probably benign |
Het |
Drosha |
T |
C |
15: 12,885,219 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
T |
A |
15: 78,558,401 (GRCm39) |
I49F |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,655 (GRCm39) |
T152A |
probably damaging |
Het |
Gigyf2 |
C |
A |
1: 87,292,988 (GRCm39) |
T85K |
probably damaging |
Het |
Gimap8 |
A |
T |
6: 48,628,017 (GRCm39) |
Y258F |
possibly damaging |
Het |
Glmn |
A |
G |
5: 107,709,752 (GRCm39) |
C351R |
probably benign |
Het |
Gm10032 |
T |
C |
14: 67,029,998 (GRCm39) |
|
noncoding transcript |
Het |
Gorasp2 |
G |
A |
2: 70,519,598 (GRCm39) |
A328T |
probably benign |
Het |
Grin1 |
A |
T |
2: 25,193,919 (GRCm39) |
H392Q |
probably benign |
Het |
Gzmn |
A |
G |
14: 56,405,319 (GRCm39) |
V55A |
probably damaging |
Het |
Herc4 |
T |
A |
10: 63,124,876 (GRCm39) |
S497T |
probably benign |
Het |
Hrc |
A |
T |
7: 44,985,515 (GRCm39) |
D222V |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,026,966 (GRCm39) |
H761R |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,076,480 (GRCm39) |
D2101E |
possibly damaging |
Het |
Kcng1 |
C |
T |
2: 168,105,053 (GRCm39) |
M264I |
probably benign |
Het |
Klra14-ps |
C |
A |
6: 130,134,646 (GRCm39) |
|
noncoding transcript |
Het |
Krtap5-3 |
T |
A |
7: 141,755,974 (GRCm39) |
C270* |
probably null |
Het |
Lama3 |
A |
G |
18: 12,710,957 (GRCm39) |
H3164R |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,574,371 (GRCm39) |
I1042T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,741,418 (GRCm39) |
M3840T |
possibly damaging |
Het |
Mtor |
A |
T |
4: 148,538,440 (GRCm39) |
H166L |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,249,560 (GRCm39) |
N556D |
possibly damaging |
Het |
Oca2 |
A |
T |
7: 55,945,246 (GRCm39) |
R285* |
probably null |
Het |
Or12d13 |
T |
A |
17: 37,647,704 (GRCm39) |
I140F |
probably benign |
Het |
Or2at1 |
A |
G |
7: 99,416,717 (GRCm39) |
E116G |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,631 (GRCm39) |
|
noncoding transcript |
Het |
Or56a3b |
G |
A |
7: 104,775,771 (GRCm39) |
H246Y |
probably damaging |
Het |
Or8g33 |
A |
T |
9: 39,337,919 (GRCm39) |
Y149* |
probably null |
Het |
Pan3 |
A |
G |
5: 147,391,915 (GRCm39) |
|
probably null |
Het |
Pard3 |
G |
A |
8: 128,104,745 (GRCm39) |
V496M |
probably damaging |
Het |
Pdcd2l |
A |
T |
7: 33,892,314 (GRCm39) |
V185D |
possibly damaging |
Het |
Pgghg |
T |
C |
7: 140,526,477 (GRCm39) |
V623A |
possibly damaging |
Het |
Pigu |
C |
A |
2: 155,177,249 (GRCm39) |
|
probably benign |
Het |
Pkmyt1 |
G |
A |
17: 23,951,566 (GRCm39) |
R40Q |
probably benign |
Het |
Prag1 |
G |
A |
8: 36,567,043 (GRCm39) |
A65T |
probably benign |
Het |
Prkdc |
C |
A |
16: 15,589,985 (GRCm39) |
T2616N |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,391,030 (GRCm39) |
E1360K |
probably benign |
Het |
Ptprt |
C |
T |
2: 162,120,084 (GRCm39) |
V128M |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,462 (GRCm39) |
S1016L |
probably benign |
Het |
Rprd1a |
G |
T |
18: 24,621,257 (GRCm39) |
D307E |
probably damaging |
Het |
Slc11a1 |
A |
T |
1: 74,422,936 (GRCm39) |
|
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,457,386 (GRCm39) |
M209K |
probably damaging |
Het |
Slf2 |
T |
G |
19: 44,936,476 (GRCm39) |
L707R |
probably damaging |
Het |
Son |
T |
A |
16: 91,453,563 (GRCm39) |
M770K |
probably damaging |
Het |
Taf6l |
T |
C |
19: 8,755,417 (GRCm39) |
|
probably benign |
Het |
Tbc1d2 |
C |
A |
4: 46,614,006 (GRCm39) |
V692L |
probably benign |
Het |
Tnpo3 |
C |
T |
6: 29,582,152 (GRCm39) |
|
probably benign |
Het |
Txndc16 |
A |
T |
14: 45,448,597 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,734,525 (GRCm39) |
K1125R |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,994,351 (GRCm39) |
S433P |
probably benign |
Het |
Zc3h12a |
A |
G |
4: 125,020,706 (GRCm39) |
S46P |
probably benign |
Het |
Zwilch |
T |
G |
9: 64,054,156 (GRCm39) |
I490L |
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 |
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 |
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'- TGCTGTAAGAAGGCACTGG -3'
(R):5'- TGGCTGTGTAAAGTGTCCAGC -3'
Sequencing Primer
(F):5'- GCACTGGAGTAATGGACAGC -3'
(R):5'- CCCAAGGATTCAAGTTAGTTGCCTG -3'
|
Posted On |
2016-07-22 |