Incidental Mutation 'R5608:Mex3c'
ID 439417
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 043272-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.663) question?
Stock # R5608 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 73706115-73725646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73723014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 369 (M369K)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
AlphaFold Q05A36
Predicted Effect possibly damaging
Transcript: ENSMUST00000091852
AA Change: M369K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: M369K

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
Meta Mutation Damage Score 0.3332 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 95% (54/57)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 T C 10: 80,178,781 (GRCm39) D199G probably benign Het
Adgrl1 G T 8: 84,663,886 (GRCm39) G1118W probably damaging Het
Adgrv1 T C 13: 81,303,395 (GRCm39) E117G probably damaging Het
Alkbh7 A T 17: 57,305,446 (GRCm39) I88F probably damaging Het
Ankrd26 C A 6: 118,488,583 (GRCm39) D1359Y probably damaging Het
Apoo-ps T C 13: 107,550,709 (GRCm39) noncoding transcript Het
Arfgap2 G A 2: 91,100,547 (GRCm39) R298H probably damaging Het
Birc6 G A 17: 74,920,539 (GRCm39) V2109I probably damaging Het
Blvrb C T 7: 27,158,894 (GRCm39) P98L probably benign Het
Bmpr1b C A 3: 141,563,283 (GRCm39) M220I possibly damaging Het
Bpifa1 T C 2: 153,989,495 (GRCm39) probably benign Het
Capn7 A G 14: 31,092,664 (GRCm39) Y737C probably damaging Het
Cdh13 A T 8: 119,484,213 (GRCm39) D158V probably benign Het
Cenpe C A 3: 134,940,837 (GRCm39) S662* probably null Het
Colec12 T A 18: 9,848,267 (GRCm39) D148E possibly damaging Het
Dennd5a C A 7: 109,518,630 (GRCm39) E480* probably null Het
Dpysl4 T C 7: 138,678,459 (GRCm39) V473A probably damaging Het
Dyrk3 T C 1: 131,056,452 (GRCm39) S574G probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
H2-Aa T C 17: 34,502,816 (GRCm39) T117A possibly damaging Het
Helq C T 5: 100,938,085 (GRCm39) G454S probably damaging Het
Incenp CGCTGCTGCTGC CGCTGCTGCTGCTGC 19: 9,871,232 (GRCm39) probably benign Het
Ktn1 TTGTTGTCTTTGTGTT TTGTT 14: 47,971,554 (GRCm39) probably benign Het
Lig1 C A 7: 13,039,933 (GRCm39) T715N probably damaging Het
Lrrc31 C A 3: 30,743,994 (GRCm39) probably null Het
Ltbp2 A C 12: 84,834,238 (GRCm39) probably null Het
Marcks A T 10: 37,012,912 (GRCm39) V41E probably damaging Het
Msh6 A G 17: 88,294,329 (GRCm39) D1028G probably damaging Het
Nhlrc3 C T 3: 53,369,732 (GRCm39) probably null Het
Or1n1b A G 2: 36,780,527 (GRCm39) F111S probably damaging Het
Or52s1b T C 7: 102,822,056 (GRCm39) T263A probably damaging Het
Or52z12 G A 7: 103,233,506 (GRCm39) W92* probably null Het
Or8b8 G A 9: 37,809,078 (GRCm39) C126Y probably damaging Het
Pcdhga6 A G 18: 37,840,514 (GRCm39) N78S possibly damaging Het
Plag1 T A 4: 3,905,463 (GRCm39) K76* probably null Het
Ptpn21 T A 12: 98,655,036 (GRCm39) T644S probably benign Het
Qrfpr A G 3: 36,235,114 (GRCm39) V292A possibly damaging Het
Rbbp6 T A 7: 122,596,309 (GRCm39) V617E probably damaging Het
Rnf157 A T 11: 116,287,146 (GRCm39) probably null Het
Serpina5 A C 12: 104,070,003 (GRCm39) Y300S probably damaging Het
Slc41a3 A G 6: 90,617,889 (GRCm39) K279R probably benign Het
Smndc1 A G 19: 53,372,084 (GRCm39) V110A probably benign Het
Spata31e2 T C 1: 26,722,129 (GRCm39) Q1017R probably damaging Het
Tubgcp6 A G 15: 88,995,353 (GRCm39) V419A probably benign Het
Uggt2 C T 14: 119,326,611 (GRCm39) G200D possibly damaging Het
Utrn A T 10: 12,547,581 (GRCm39) S1620T probably benign Het
Xkr4 T C 1: 3,741,603 (GRCm39) probably benign Het
Zscan22 G A 7: 12,640,919 (GRCm39) G388S probably damaging Het
Other mutations in Mex3c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTGTAGTCCTAATCTGCCTGGTC -3'
(R):5'- AGCCACTTCCTAGAGAGCTAG -3'

Sequencing Primer
(F):5'- AGTCCTAATCTGCCTGGTCAAACC -3'
(R):5'- CCTAGAGAGCTAGAACTATCATTGCG -3'
Posted On 2016-10-26