Incidental Mutation 'R8917:Ano4'
| ID |
679006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
068704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8917 (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 88788160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 922
(Y922H)
|
| 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: Y922H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: Y922H
| 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: Y887H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: Y887H
| 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: Y887H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: Y887H
| 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 |
0.2300 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610528J11Rik |
A |
G |
4: 118,386,490 (GRCm39) |
M1V |
probably null |
Het |
| Acss3 |
T |
C |
10: 106,773,124 (GRCm39) |
S621G |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,145 (GRCm39) |
R716Q |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,535,902 (GRCm39) |
N177K |
probably damaging |
Het |
| Ankrd31 |
G |
A |
13: 96,969,212 (GRCm39) |
V950I |
probably damaging |
Het |
| Axin2 |
A |
T |
11: 108,822,341 (GRCm39) |
N298Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,303,882 (GRCm39) |
M2392K |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,974,202 (GRCm39) |
S123G |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,676,993 (GRCm39) |
V63A |
probably damaging |
Het |
| Ctla2a |
A |
T |
13: 61,083,854 (GRCm39) |
M26K |
probably benign |
Het |
| Cts8 |
A |
T |
13: 61,396,882 (GRCm39) |
|
probably benign |
Het |
| Cyp4a30b |
C |
A |
4: 115,311,662 (GRCm39) |
S110* |
probably null |
Het |
| Eif2ak4 |
A |
G |
2: 118,287,617 (GRCm39) |
Y1195C |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,578,360 (GRCm39) |
D401G |
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,663,773 (GRCm39) |
V252A |
probably benign |
Het |
| Furin |
T |
C |
7: 80,048,437 (GRCm39) |
K28E |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,270,428 (GRCm39) |
F713I |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,103 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,081,523 (GRCm39) |
N144D |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,888 (GRCm39) |
T2262S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,276 (GRCm39) |
F923S |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,928 (GRCm39) |
M200I |
probably damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,508 (GRCm39) |
Y140H |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,690 (GRCm39) |
I237N |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,455 (GRCm39) |
S152G |
possibly damaging |
Het |
| Lce1k |
C |
A |
3: 92,714,097 (GRCm39) |
C29F |
unknown |
Het |
| Map1a |
A |
G |
2: 121,131,791 (GRCm39) |
E869G |
possibly damaging |
Het |
| Mcmbp |
T |
C |
7: 128,300,281 (GRCm39) |
E576G |
probably benign |
Het |
| Mrps22 |
A |
G |
9: 98,476,163 (GRCm39) |
V231A |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,551,534 (GRCm39) |
L697F |
possibly damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,999,297 (GRCm39) |
V1291A |
probably benign |
Het |
| Nherf4 |
T |
A |
9: 44,160,141 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
A |
T |
2: 87,733,307 (GRCm39) |
S238T |
possibly damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,431 (GRCm39) |
T451A |
possibly damaging |
Het |
| Pi4ka |
C |
A |
16: 17,130,310 (GRCm39) |
W1032L |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,396,403 (GRCm39) |
I1975N |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,567,637 (GRCm39) |
M115T |
possibly damaging |
Het |
| Poldip2 |
G |
A |
11: 78,412,667 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,768,935 (GRCm39) |
V429M |
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,582,392 (GRCm39) |
Q1440* |
probably null |
Het |
| Rtn3 |
A |
T |
19: 7,434,105 (GRCm39) |
I629K |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,728 (GRCm39) |
F278L |
probably damaging |
Het |
| Skor2 |
G |
A |
18: 76,948,504 (GRCm39) |
G742D |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,429 (GRCm39) |
P324S |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,676,682 (GRCm39) |
I403N |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,978,052 (GRCm39) |
Q374L |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,645,332 (GRCm39) |
|
probably null |
Het |
| Thnsl2 |
T |
C |
6: 71,116,927 (GRCm39) |
D75G |
probably benign |
Het |
| Tnr |
A |
T |
1: 159,701,692 (GRCm39) |
K598* |
probably null |
Het |
| Tshr |
T |
A |
12: 91,468,829 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,185,735 (GRCm39) |
S1483P |
|
Het |
| Usp42 |
T |
C |
5: 143,701,695 (GRCm39) |
E776G |
|
Het |
| Vmn2r118 |
T |
C |
17: 55,917,216 (GRCm39) |
E432G |
possibly damaging |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,433 (GRCm39) |
I830T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,159 (GRCm39) |
E1464G |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,305 (GRCm39) |
T646A |
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 |
|
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 |
|
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'- TGACCCTTGTTAGCAAACACTC -3'
(R):5'- TGGTCCTCCTCTCTAGATGGTG -3'
Sequencing Primer
(F):5'- AAACACTCTATACTCTGTTTCTGGG -3'
(R):5'- TCCTCTCTAGATGGTGTCAACAAAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation