Incidental Mutation 'R4006:Ano4'
ID |
311486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ano4
|
Ensembl Gene |
ENSMUSG00000035189 |
Gene Name |
anoctamin 4 |
Synonyms |
Tmem16d, A330096O15Rik |
MMRRC Submission |
040845-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4006 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 88924125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 329
(V329L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181976]
[ENSMUST00000182341]
[ENSMUST00000182419]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
[ENSMUST00000183268]
[ENSMUST00000182624]
|
AlphaFold |
Q8C5H1 |
Predicted Effect |
unknown
Transcript: ENSMUST00000045601
|
SMART Domains |
Protein: ENSMUSP00000043478 Gene: ENSMUSG00000035189
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 benign
Transcript: ENSMUST00000181976
AA Change: V163L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182041
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182341
AA Change: V163L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000138193 Gene: ENSMUSG00000035189 AA Change: V163L
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: ENSMUST00000182419
AA Change: V329L
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138435 Gene: ENSMUSG00000035189 AA Change: V329L
Domain | Start | End | E-Value | Type |
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182462
AA Change: V128L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182613
AA Change: V128L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000138268 Gene: ENSMUSG00000035189 AA Change: V128L
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 benign
Transcript: ENSMUST00000182790
AA Change: V128L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000138325 Gene: ENSMUSG00000035189 AA Change: V128L
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 benign
Transcript: ENSMUST00000183268
AA Change: V163L
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted(1)
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly 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 |
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'- TGTTCCAGGAGAGAATGTCATTAGG -3'
(R):5'- AATATGTGCATACTTTATGGGGCTG -3'
Sequencing Primer
(F):5'- CCAGGAGAGAATGTCATTAGGTTTAC -3'
(R):5'- CATACTTTATGGGGCTGGTGTATTGC -3'
|
Posted On |
2015-04-29 |