Incidental Mutation 'R1871:Ano4'
| ID |
210755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
039893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1871 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88828889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 517
(I517F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045601
AA Change: I346F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189
AA Change: I346F
| 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 damaging
Transcript: ENSMUST00000182341
AA Change: I517F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: I517F
| 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 |
unknown
Transcript: ENSMUST00000182598
AA Change: I32F
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182613
AA Change: I482F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: I482F
| 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: I482F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: I482F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182888
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
| Validation Efficiency |
97% (87/90) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,415,699 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
| Abce1 |
G |
A |
8: 80,411,897 (GRCm39) |
Q588* |
probably null |
Het |
| Acads |
A |
T |
5: 115,255,701 (GRCm39) |
C45S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
| Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
| Blk |
A |
T |
14: 63,613,364 (GRCm39) |
S381R |
possibly damaging |
Het |
| Capn15 |
C |
A |
17: 26,183,203 (GRCm39) |
W426L |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,176 (GRCm39) |
T999A |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
| Crp |
T |
A |
1: 172,526,172 (GRCm39) |
W86R |
possibly damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,812,534 (GRCm39) |
L705F |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,853,639 (GRCm39) |
D441G |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
| Eef1g |
A |
T |
19: 8,955,330 (GRCm39) |
D393V |
possibly damaging |
Het |
| Elapor2 |
A |
G |
5: 9,468,007 (GRCm39) |
E225G |
probably damaging |
Het |
| Ephx2 |
A |
T |
14: 66,322,183 (GRCm39) |
I538N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,221 (GRCm39) |
S2958T |
possibly damaging |
Het |
| Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
| Gm10287 |
G |
T |
3: 148,930,373 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,674,498 (GRCm39) |
D460G |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,820,426 (GRCm39) |
D641G |
probably damaging |
Het |
| Heph |
C |
A |
X: 95,542,690 (GRCm39) |
S561Y |
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,200,257 (GRCm39) |
*90W |
probably null |
Het |
| Hp1bp3 |
C |
G |
4: 137,949,497 (GRCm39) |
P65R |
probably damaging |
Het |
| Ighv6-4 |
T |
A |
12: 114,370,221 (GRCm39) |
Y58F |
probably benign |
Het |
| Jrk |
T |
C |
15: 74,578,412 (GRCm39) |
D291G |
possibly damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,679 (GRCm39) |
Y60H |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,291 (GRCm39) |
Y203H |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,775,793 (GRCm39) |
V255D |
possibly damaging |
Het |
| Krt9 |
C |
T |
11: 100,081,614 (GRCm39) |
R305H |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,860,490 (GRCm39) |
N2999T |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,488,328 (GRCm39) |
L106Q |
probably damaging |
Het |
| Llph |
A |
T |
10: 120,067,141 (GRCm39) |
N86I |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,826,297 (GRCm39) |
N1601K |
probably benign |
Het |
| Mc1r |
T |
A |
8: 124,134,275 (GRCm39) |
S9R |
probably benign |
Het |
| Mfsd14a |
A |
G |
3: 116,434,969 (GRCm39) |
I249T |
probably benign |
Het |
| Mtfp1 |
G |
A |
11: 4,044,012 (GRCm39) |
R73C |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,540 (GRCm39) |
Q877R |
probably benign |
Het |
| Nalcn |
A |
C |
14: 123,831,965 (GRCm39) |
V103G |
possibly damaging |
Het |
| Ndst3 |
A |
T |
3: 123,355,673 (GRCm39) |
F119I |
probably damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,655 (GRCm39) |
N294S |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,902,596 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,408 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
C |
18: 37,652,200 (GRCm39) |
T223P |
probably damaging |
Het |
| Pcdhga1 |
T |
A |
18: 37,973,143 (GRCm39) |
N907K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
| Plpp6 |
T |
C |
19: 28,941,684 (GRCm39) |
F95S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,474,374 (GRCm39) |
|
probably benign |
Het |
| Qars1 |
T |
G |
9: 108,391,315 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,328,383 (GRCm39) |
I2800V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,340,955 (GRCm39) |
V3532A |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,279,849 (GRCm39) |
S411P |
possibly damaging |
Het |
| Scn1a |
C |
A |
2: 66,148,369 (GRCm39) |
G1059W |
probably damaging |
Het |
| Sgms1 |
C |
T |
19: 32,137,282 (GRCm39) |
V95I |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
| Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
| Sorl1 |
G |
A |
9: 41,881,021 (GRCm39) |
Q2167* |
probably null |
Het |
| Stkld1 |
A |
G |
2: 26,827,985 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
C |
10: 23,967,900 (GRCm39) |
Y98C |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,248,472 (GRCm39) |
L1977F |
probably damaging |
Het |
| Tecta |
G |
C |
9: 42,248,636 (GRCm39) |
T1917R |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,628,544 (GRCm39) |
S1544T |
probably benign |
Het |
| Tpx2 |
T |
C |
2: 152,735,523 (GRCm39) |
I717T |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,032,737 (GRCm39) |
V342E |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,856,235 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,549,876 (GRCm39) |
R711S |
possibly damaging |
Het |
| Ush2a |
C |
A |
1: 188,558,665 (GRCm39) |
D3631E |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,642,028 (GRCm39) |
T2200A |
probably benign |
Het |
| Wif1 |
A |
G |
10: 120,920,824 (GRCm39) |
I215M |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,050 (GRCm39) |
T1134A |
probably damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,235 (GRCm39) |
V367A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,412 (GRCm39) |
K119* |
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 |
|
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 |
|
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'- AGATCGTCTGCCTTGACTGTC -3'
(R):5'- ACAGAGAAAGTATTCCCCAGGATG -3'
Sequencing Primer
(F):5'- GCCTTGACTGTCTCTTTAGGAACAG -3'
(R):5'- TATTCCCCAGGATGGAAAGTGCAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation