Incidental Mutation 'IGL01615:Mex3c'
ID 92372
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) question?
Stock # IGL01615
Quality Score
Status
Chromosome 18
Chromosomal Location 73706115-73725646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73706703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 197 (A197T)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
AlphaFold Q05A36
Predicted Effect unknown
Transcript: ENSMUST00000091852
AA Change: A197T
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: A197T

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,171,692 (GRCm39) T906A probably damaging Het
Akap13 A G 7: 75,347,141 (GRCm39) S1731G probably damaging Het
Apbb2 A G 5: 66,465,044 (GRCm39) V650A probably benign Het
Appl1 A G 14: 26,681,427 (GRCm39) probably benign Het
Avpr1b T G 1: 131,527,885 (GRCm39) V136G probably damaging Het
C6 T C 15: 4,811,378 (GRCm39) F409L probably benign Het
Ccdc121rt3 A G 5: 112,503,696 (GRCm39) S3P possibly damaging Het
Cdk20 A G 13: 64,584,124 (GRCm39) probably benign Het
Cenpf T C 1: 189,385,381 (GRCm39) K2300E possibly damaging Het
Cfap57 C T 4: 118,457,993 (GRCm39) R399Q probably damaging Het
Cimap3 G T 3: 105,904,523 (GRCm39) probably null Het
Cnnm1 A T 19: 43,460,375 (GRCm39) S706C probably benign Het
Cr1l T C 1: 194,812,189 (GRCm39) I45V possibly damaging Het
D130043K22Rik A T 13: 25,083,779 (GRCm39) R1081S probably damaging Het
Ddx60 A T 8: 62,416,774 (GRCm39) H573L probably null Het
Eif5b T C 1: 38,084,787 (GRCm39) L878S probably damaging Het
Ets1 T C 9: 32,644,235 (GRCm39) probably benign Het
Evi5 A G 5: 107,912,573 (GRCm39) L696P probably damaging Het
Fbh1 C A 2: 11,762,334 (GRCm39) E12* probably null Het
Gabpb1 C A 2: 126,495,520 (GRCm39) M77I possibly damaging Het
Glul T A 1: 153,782,222 (GRCm39) N152K probably benign Het
Gm45234 T C 6: 124,723,394 (GRCm39) Y613C probably damaging Het
Gm5611 A G 9: 16,941,647 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,808,953 (GRCm39) I225K probably damaging Het
Herc4 T C 10: 63,126,461 (GRCm39) probably benign Het
Iqsec3 C T 6: 121,387,580 (GRCm39) V720M probably damaging Het
Itgam A T 7: 127,715,939 (GRCm39) H1104L possibly damaging Het
Itgb3 T A 11: 104,534,791 (GRCm39) D549E probably damaging Het
Kctd7 A T 5: 130,176,976 (GRCm39) M76L probably damaging Het
Kdm3b T G 18: 34,962,284 (GRCm39) N1523K probably damaging Het
Map3k12 T A 15: 102,412,186 (GRCm39) E318D probably damaging Het
Mc1r T C 8: 124,134,789 (GRCm39) Y181H probably damaging Het
Mvk A G 5: 114,584,353 (GRCm39) D71G probably benign Het
Ndufb3 T A 1: 58,634,912 (GRCm39) L88* probably null Het
Or56a4 A G 7: 104,806,667 (GRCm39) V74A probably benign Het
Or5p55 A G 7: 107,567,144 (GRCm39) D180G probably damaging Het
Pramel17 T A 4: 101,694,201 (GRCm39) R227S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Slc5a3 C T 16: 91,876,000 (GRCm39) Q686* probably null Het
Vmn2r75 T C 7: 85,797,681 (GRCm39) I711V probably benign Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp354c A G 11: 50,708,732 (GRCm39) S22P possibly damaging Het
Other mutations in Mex3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Mex3c APN 18 73,722,960 (GRCm39) missense probably damaging 1.00
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
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 2013-12-09