Incidental Mutation 'IGL02588:Mex3c'
ID299610
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: 0.730) question?
Stock #IGL02588
Quality Score
Status
Chromosome18
Chromosomal Location73573044-73592575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73590045 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 403 (N403S)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
Predicted Effect probably damaging
Transcript: ENSMUST00000091852
AA Change: N403S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: N403S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Mex3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Mex3c APN 18 73589889 missense probably damaging 1.00
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
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
R8670:Mex3c UTSW 18 73589705 frame shift probably null
R8887:Mex3c UTSW 18 73573729 missense probably damaging 1.00
Posted On2015-04-16