Incidental Mutation 'IGL03203:Ear6'
ID |
413042 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ear6
|
Ensembl Gene |
ENSMUSG00000062148 |
Gene Name |
eosinophil-associated, ribonuclease A family, member 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
IGL03203
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52091225-52092100 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 52091703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 83
(S83R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074477]
[ENSMUST00000169070]
|
AlphaFold |
Q923L7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074477
AA Change: S83R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000074075 Gene: ENSMUSG00000062148 AA Change: S83R
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
RNAse_Pc
|
27 |
155 |
7.8e-54 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169070
AA Change: S83R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000127152 Gene: ENSMUSG00000062148 AA Change: S83R
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
RNAse_Pc
|
27 |
155 |
7.8e-54 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
T |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
T |
G |
7: 66,711,856 (GRCm39) |
I725S |
probably damaging |
Het |
Arhgef3 |
T |
C |
14: 27,116,073 (GRCm39) |
Y292H |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,817,828 (GRCm39) |
C638Y |
possibly damaging |
Het |
Ces1c |
A |
T |
8: 93,851,216 (GRCm39) |
M136K |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 114,005,733 (GRCm39) |
I482V |
possibly damaging |
Het |
Col4a3 |
A |
T |
1: 82,650,360 (GRCm39) |
K539* |
probably null |
Het |
D630045J12Rik |
A |
G |
6: 38,145,156 (GRCm39) |
V1290A |
probably damaging |
Het |
Gdf10 |
T |
C |
14: 33,656,430 (GRCm39) |
V464A |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,296,182 (GRCm39) |
|
probably null |
Het |
Katnal2 |
G |
T |
18: 77,095,220 (GRCm39) |
A194E |
probably damaging |
Het |
Lpxn |
A |
T |
19: 12,796,770 (GRCm39) |
M97L |
probably benign |
Het |
Mn1 |
T |
C |
5: 111,569,269 (GRCm39) |
S1080P |
probably benign |
Het |
Nadk |
T |
C |
4: 155,669,708 (GRCm39) |
F89L |
probably damaging |
Het |
Nek5 |
G |
A |
8: 22,608,784 (GRCm39) |
R92W |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nipal4 |
C |
A |
11: 46,041,123 (GRCm39) |
L357F |
probably damaging |
Het |
Or12d12 |
A |
G |
17: 37,611,317 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,467,585 (GRCm39) |
N169D |
possibly damaging |
Het |
Plppr4 |
A |
G |
3: 117,119,540 (GRCm39) |
C290R |
possibly damaging |
Het |
Rxfp2 |
A |
G |
5: 149,987,145 (GRCm39) |
D332G |
probably benign |
Het |
Slc9b2 |
G |
A |
3: 135,031,973 (GRCm39) |
D278N |
probably damaging |
Het |
Taok1 |
A |
G |
11: 77,430,911 (GRCm39) |
V838A |
probably damaging |
Het |
Thoc1 |
T |
A |
18: 9,960,483 (GRCm39) |
|
probably benign |
Het |
Usp36 |
C |
T |
11: 118,176,636 (GRCm39) |
V61I |
probably benign |
Het |
Uxs1 |
A |
G |
1: 43,846,504 (GRCm39) |
|
probably benign |
Het |
Zmat4 |
C |
T |
8: 24,505,200 (GRCm39) |
H147Y |
probably damaging |
Het |
|
Other mutations in Ear6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01826:Ear6
|
APN |
14 |
52,091,722 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02070:Ear6
|
APN |
14 |
52,091,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Ear6
|
UTSW |
14 |
52,091,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R0788:Ear6
|
UTSW |
14 |
52,091,487 (GRCm39) |
nonsense |
probably null |
|
R1998:Ear6
|
UTSW |
14 |
52,091,672 (GRCm39) |
missense |
probably benign |
0.12 |
R4948:Ear6
|
UTSW |
14 |
52,091,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5787:Ear6
|
UTSW |
14 |
52,091,855 (GRCm39) |
missense |
probably benign |
0.09 |
R6501:Ear6
|
UTSW |
14 |
52,091,681 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6814:Ear6
|
UTSW |
14 |
52,091,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R6872:Ear6
|
UTSW |
14 |
52,091,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R8318:Ear6
|
UTSW |
14 |
52,091,722 (GRCm39) |
missense |
probably benign |
0.00 |
R8382:Ear6
|
UTSW |
14 |
52,091,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R9485:Ear6
|
UTSW |
14 |
52,091,489 (GRCm39) |
missense |
|
|
Z1177:Ear6
|
UTSW |
14 |
52,091,860 (GRCm39) |
frame shift |
probably null |
|
Z1177:Ear6
|
UTSW |
14 |
52,091,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |