Incidental Mutation 'IGL02513:Mex3c'
ID |
296635 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mex3c
|
Ensembl Gene |
ENSMUSG00000037253 |
Gene Name |
mex3 RNA binding family member C |
Synonyms |
Rkhd2, BM-013, A130001D14Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.676)
|
Stock # |
IGL02513
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
73706115-73725646 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73723360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 484
(D484E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091852]
|
AlphaFold |
Q05A36 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091852
AA Change: D484E
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000089463 Gene: ENSMUSG00000037253 AA Change: D484E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
58 |
84 |
N/A |
INTRINSIC |
coiled coil region
|
96 |
135 |
N/A |
INTRINSIC |
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
low complexity region
|
197 |
216 |
N/A |
INTRINSIC |
KH
|
223 |
291 |
5.53e-10 |
SMART |
KH
|
318 |
385 |
2.98e-15 |
SMART |
low complexity region
|
430 |
451 |
N/A |
INTRINSIC |
Blast:KH
|
496 |
532 |
8e-6 |
BLAST |
low complexity region
|
574 |
591 |
N/A |
INTRINSIC |
RING
|
601 |
640 |
3.02e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozgyous for a gene trap allele exhibit strain dependent neonatal lethality and alveolar defects, growth retardation, and defects in long bone growth plate. Mice homozygous for a null allele display growth retardation and impaired cytokine production. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
Ccdc9 |
A |
G |
7: 16,018,434 (GRCm39) |
|
probably benign |
Het |
Cers6 |
T |
C |
2: 68,899,013 (GRCm39) |
F217S |
probably benign |
Het |
Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
Dmac2l |
A |
T |
12: 69,787,819 (GRCm39) |
Y85F |
probably benign |
Het |
Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
Pabpc2 |
C |
T |
18: 39,908,193 (GRCm39) |
T486I |
probably benign |
Het |
Pgm2 |
A |
G |
5: 64,260,289 (GRCm39) |
|
probably benign |
Het |
Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,083,260 (GRCm39) |
S594R |
possibly damaging |
Het |
Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
Other mutations in Mex3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Mex3c
|
APN |
18 |
73,722,960 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01615:Mex3c
|
APN |
18 |
73,706,703 (GRCm39) |
missense |
unknown |
|
IGL01953:Mex3c
|
APN |
18 |
73,723,104 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02327:Mex3c
|
APN |
18 |
73,723,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Mex3c
|
APN |
18 |
73,723,116 (GRCm39) |
missense |
probably damaging |
0.98 |
R0013:Mex3c
|
UTSW |
18 |
73,723,622 (GRCm39) |
missense |
probably benign |
0.18 |
R0013:Mex3c
|
UTSW |
18 |
73,723,622 (GRCm39) |
missense |
probably benign |
0.18 |
R0532:Mex3c
|
UTSW |
18 |
73,723,124 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1305:Mex3c
|
UTSW |
18 |
73,723,306 (GRCm39) |
missense |
probably benign |
0.39 |
R2075:Mex3c
|
UTSW |
18 |
73,722,840 (GRCm39) |
missense |
probably benign |
0.00 |
R2290:Mex3c
|
UTSW |
18 |
73,723,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R2330:Mex3c
|
UTSW |
18 |
73,706,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Mex3c
|
UTSW |
18 |
73,723,014 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5608:Mex3c
|
UTSW |
18 |
73,723,014 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6373:Mex3c
|
UTSW |
18 |
73,723,065 (GRCm39) |
missense |
probably benign |
0.28 |
R7719:Mex3c
|
UTSW |
18 |
73,723,061 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8670:Mex3c
|
UTSW |
18 |
73,722,776 (GRCm39) |
frame shift |
probably null |
|
R8887:Mex3c
|
UTSW |
18 |
73,706,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R9144:Mex3c
|
UTSW |
18 |
73,723,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |