Incidental Mutation 'R2330:Mex3c'
| ID |
245857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mex3c
|
| Ensembl Gene |
ENSMUSG00000037253 |
| Gene Name |
mex3 RNA binding family member C |
| Synonyms |
Rkhd2, BM-013, A130001D14Rik |
| MMRRC Submission |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.663)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
73706115-73725646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73706799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 229
(V229I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091852]
|
| AlphaFold |
Q05A36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091852
AA Change: V229I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: V229I
| 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 |
|
| Meta Mutation Damage Score |
0.1291 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
| Gramd1c |
T |
C |
16: 43,803,566 (GRCm39) |
N616D |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
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 |
|
IGL02513:Mex3c
|
APN |
18 |
73,723,360 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGACGGAGAACTGCTGGA -3'
(R):5'- AAGGTGACCGGTCCCTTTCT -3'
Sequencing Primer
(F):5'- AGACTCAGCCGATCCCG -3'
(R):5'- TTTCTCGGCGACCCAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation