Incidental Mutation 'IGL01826:Ear6'
| ID |
154663 |
| 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 # |
IGL01826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52091225-52092100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52091722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 90
(I90V)
|
| 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: I90V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000074075
Gene: ENSMUSG00000062148
AA Change: I90V
| 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: I90V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127152
Gene: ENSMUSG00000062148
AA Change: I90V
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
A |
7: 45,774,273 (GRCm39) |
D769V |
probably benign |
Het |
| Afm |
T |
A |
5: 90,672,787 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
A |
G |
4: 126,297,075 (GRCm39) |
S181P |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,301 (GRCm39) |
V156A |
probably benign |
Het |
| Ccm2l |
C |
A |
2: 152,909,853 (GRCm39) |
|
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,503,765 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
G |
2: 82,812,983 (GRCm39) |
S3101A |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,216,314 (GRCm39) |
H384N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,901,318 (GRCm39) |
I235V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 41,339,246 (GRCm39) |
G752C |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,599,835 (GRCm39) |
D659G |
possibly damaging |
Het |
| Odad1 |
T |
A |
7: 45,597,810 (GRCm39) |
S573R |
possibly damaging |
Het |
| Plb1 |
A |
C |
5: 32,438,489 (GRCm39) |
D208A |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,727,682 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,076,282 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
A |
T |
15: 83,974,247 (GRCm39) |
S141T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,177,548 (GRCm39) |
K38M |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Zfp451 |
G |
A |
1: 33,821,243 (GRCm39) |
T203M |
probably damaging |
Het |
|
| Other mutations in Ear6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02070:Ear6
|
APN |
14 |
52,091,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03203:Ear6
|
APN |
14 |
52,091,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-02-04 |
Incidental Mutation