Incidental Mutation 'IGL01581:Mex3a'
| ID |
91374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mex3a
|
| Ensembl Gene |
ENSMUSG00000074480 |
| Gene Name |
mex3 RNA binding family member A |
| Synonyms |
Rkhd4, 2700083E18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
IGL01581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88439702-88448703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88443671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 249
(I249T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172699]
|
| AlphaFold |
G3UYU0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122779
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172699
AA Change: I249T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480
AA Change: I249T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
110 |
N/A |
INTRINSIC |
|
KH
|
130 |
198 |
3.35e-9 |
SMART |
|
KH
|
222 |
289 |
4.59e-16 |
SMART |
|
low complexity region
|
406 |
415 |
N/A |
INTRINSIC |
|
RING
|
469 |
508 |
1.39e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 7 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Gmfg |
A |
T |
7: 28,142,646 (GRCm39) |
N18I |
probably benign |
Het |
| Mgp |
T |
C |
6: 136,852,660 (GRCm39) |
|
probably benign |
Het |
| Sdsl |
A |
G |
5: 120,597,632 (GRCm39) |
V225A |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,337,973 (GRCm39) |
K93R |
possibly damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,779,549 (GRCm39) |
R89H |
probably benign |
Het |
| Smpd2 |
T |
C |
10: 41,365,524 (GRCm39) |
D28G |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,213,122 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mex3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02930:Mex3a
|
APN |
3 |
88,443,532 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03000:Mex3a
|
APN |
3 |
88,443,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03357:Mex3a
|
APN |
3 |
88,443,553 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0143:Mex3a
|
UTSW |
3 |
88,443,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1109:Mex3a
|
UTSW |
3 |
88,443,967 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1700:Mex3a
|
UTSW |
3 |
88,443,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Mex3a
|
UTSW |
3 |
88,443,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Mex3a
|
UTSW |
3 |
88,443,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Mex3a
|
UTSW |
3 |
88,444,084 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8006:Mex3a
|
UTSW |
3 |
88,444,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Mex3a
|
UTSW |
3 |
88,444,064 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8205:Mex3a
|
UTSW |
3 |
88,444,159 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9288:Mex3a
|
UTSW |
3 |
88,443,458 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9386:Mex3a
|
UTSW |
3 |
88,443,505 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9415:Mex3a
|
UTSW |
3 |
88,444,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation