Incidental Mutation 'IGL00309:Mex3c'
ID3297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mex3c
Ensembl Gene ENSMUSG00000037253
Gene Namemex3 RNA binding family member C
SynonymsRkhd2, BM-013, A130001D14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.661) question?
Stock #IGL00309
Quality Score
Status
Chromosome18
Chromosomal Location73573044-73592575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 73589889 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 351 (T351M)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
Predicted Effect probably damaging
Transcript: ENSMUST00000091852
AA Change: T351M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: T351M

DomainStartEndE-ValueType
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
BB014433 G T 8: 15,042,510 N114K probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Cyp2c70 A T 19: 40,156,826 N395K probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gga1 G T 15: 78,883,355 V98L possibly damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Olfr1019 A T 2: 85,841,362 V143D probably benign Het
Olfr1513 A G 14: 52,349,710 V112A probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Slc25a25 A T 2: 32,419,160 V75E probably benign Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in Mex3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Mex3c APN 18 73573632 missense unknown
IGL01953:Mex3c APN 18 73590033 missense probably damaging 0.98
IGL02327:Mex3c APN 18 73590710 missense probably damaging 1.00
IGL02513:Mex3c APN 18 73590289 missense possibly damaging 0.50
IGL02588:Mex3c APN 18 73590045 missense probably damaging 0.98
R0013:Mex3c UTSW 18 73590551 missense probably benign 0.18
R0013:Mex3c UTSW 18 73590551 missense probably benign 0.18
R0532:Mex3c UTSW 18 73590053 missense possibly damaging 0.95
R1305:Mex3c UTSW 18 73590235 missense probably benign 0.39
R2075:Mex3c UTSW 18 73589769 missense probably benign 0.00
R2290:Mex3c UTSW 18 73590693 missense probably damaging 1.00
R2330:Mex3c UTSW 18 73573728 missense probably damaging 1.00
R5607:Mex3c UTSW 18 73589943 missense possibly damaging 0.96
R5608:Mex3c UTSW 18 73589943 missense possibly damaging 0.96
R6373:Mex3c UTSW 18 73589994 missense probably benign 0.28
R7719:Mex3c UTSW 18 73589990 missense possibly damaging 0.81
Posted On2012-04-20