Incidental Mutation 'R2360:Mex3b'
| ID |
247110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mex3b
|
| Ensembl Gene |
ENSMUSG00000057706 |
| Gene Name |
mex3 RNA binding family member B |
| Synonyms |
Rkhd3, 4931439A04Rik |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
82516541-82520723 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82517070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 71
(V71A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082237]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082237
AA Change: V71A
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082168
Gene: ENSMUSG00000057706
AA Change: V71A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
61 |
N/A |
INTRINSIC |
|
KH
|
71 |
139 |
2.54e-9 |
SMART |
|
KH
|
166 |
233 |
1.6e-15 |
SMART |
|
low complexity region
|
262 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
515 |
N/A |
INTRINSIC |
|
RING
|
525 |
564 |
3.24e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209046
|
| Meta Mutation Damage Score |
0.0989 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygous inactivation of this gene leads to partial neonatal lethality, decreased body weight and subfertility. Males show seminiferous tubule obstruction, oligozoospermia, abnormalities in Sertoli cell barrier morphology and function, and impaired Sertoli cell and macrophage phagocytosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
Het |
|
| Other mutations in Mex3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Mex3b
|
APN |
7 |
82,518,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01112:Mex3b
|
APN |
7 |
82,518,911 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01490:Mex3b
|
APN |
7 |
82,519,035 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01809:Mex3b
|
APN |
7 |
82,518,920 (GRCm39) |
missense |
probably benign |
|
|
IGL02328:Mex3b
|
APN |
7 |
82,518,920 (GRCm39) |
missense |
probably benign |
|
|
R0218:Mex3b
|
UTSW |
7 |
82,518,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Mex3b
|
UTSW |
7 |
82,518,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4184:Mex3b
|
UTSW |
7 |
82,519,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4397:Mex3b
|
UTSW |
7 |
82,519,031 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4771:Mex3b
|
UTSW |
7 |
82,518,273 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4945:Mex3b
|
UTSW |
7 |
82,519,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5189:Mex3b
|
UTSW |
7 |
82,518,459 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6962:Mex3b
|
UTSW |
7 |
82,518,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7021:Mex3b
|
UTSW |
7 |
82,519,080 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7381:Mex3b
|
UTSW |
7 |
82,518,073 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7483:Mex3b
|
UTSW |
7 |
82,517,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8398:Mex3b
|
UTSW |
7 |
82,518,842 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9288:Mex3b
|
UTSW |
7 |
82,518,159 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF009:Mex3b
|
UTSW |
7 |
82,516,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTGGCTGCACCTTCTAG -3'
(R):5'- TAGCAGGAGAAAGTGCATCC -3'
Sequencing Primer
(F):5'- AGCTCGCTGTTTGCAGAC -3'
(R):5'- AGAAAGTGCATCCCGCCG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation