Incidental Mutation 'IGL01953:Mex3c'
ID 181328
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 # IGL01953
Quality Score
Status
Chromosome 18
Chromosomal Location 73706115-73725646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73723104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 399 (D399G)
Ref Sequence ENSEMBL: ENSMUSP00000089463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091852]
AlphaFold Q05A36
Predicted Effect probably damaging
Transcript: ENSMUST00000091852
AA Change: D399G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: D399G

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
Anks3 G A 16: 4,778,408 (GRCm39) A8V probably damaging Het
Atp6v0a4 A G 6: 38,031,552 (GRCm39) S650P probably damaging Het
B3glct C A 5: 149,669,000 (GRCm39) D311E probably benign Het
Cc2d1a G A 8: 84,870,607 (GRCm39) P119S probably benign Het
Cdcp3 T C 7: 130,826,709 (GRCm39) M261T probably benign Het
Chdh T C 14: 29,757,304 (GRCm39) V409A probably benign Het
Cipc T A 12: 86,999,538 (GRCm39) V4E possibly damaging Het
Dock2 G T 11: 34,623,183 (GRCm39) T70K probably benign Het
Dpf1 T C 7: 29,013,732 (GRCm39) V269A probably damaging Het
Drc7 A T 8: 95,785,753 (GRCm39) Y203F probably damaging Het
Dsg3 C T 18: 20,658,361 (GRCm39) T324I probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Iqcd A T 5: 120,738,554 (GRCm39) N124I probably benign Het
Kdm7a T C 6: 39,123,836 (GRCm39) N776S probably benign Het
Lama5 C T 2: 179,832,497 (GRCm39) R1684H probably damaging Het
Lrp12 A T 15: 39,741,497 (GRCm39) V406D probably damaging Het
Lrrc74a T A 12: 86,788,494 (GRCm39) L158Q probably damaging Het
Mef2d C T 3: 88,063,813 (GRCm39) T80I probably damaging Het
Megf11 T C 9: 64,597,370 (GRCm39) C681R probably damaging Het
Muc20 T C 16: 32,614,073 (GRCm39) T435A probably benign Het
Myo5b T C 18: 74,702,838 (GRCm39) Y10H possibly damaging Het
Or12d13 T C 17: 37,647,766 (GRCm39) D119G probably damaging Het
Or4k40 A G 2: 111,250,657 (GRCm39) L213P probably benign Het
Otoa T A 7: 120,759,548 (GRCm39) probably null Het
P4ha2 T C 11: 54,004,996 (GRCm39) F124S probably benign Het
Phkg2 C T 7: 127,181,512 (GRCm39) P232S probably damaging Het
Piezo1 T A 8: 123,217,923 (GRCm39) Q800L probably damaging Het
Pign C A 1: 105,516,764 (GRCm39) probably benign Het
Pik3r5 A G 11: 68,384,997 (GRCm39) D634G probably benign Het
Ptpn9 A G 9: 56,964,072 (GRCm39) T402A possibly damaging Het
Relb A C 7: 19,349,482 (GRCm39) probably null Het
Scgb1b30 A G 7: 33,799,302 (GRCm39) Q78R probably damaging Het
Sema6a C T 18: 47,423,187 (GRCm39) W273* probably null Het
Sestd1 A G 2: 77,042,813 (GRCm39) V247A possibly damaging Het
Specc1 T A 11: 62,009,122 (GRCm39) S293T probably benign Het
Sptbn2 A G 19: 4,799,721 (GRCm39) D2145G probably benign Het
Trim43b T A 9: 88,967,496 (GRCm39) D380V possibly damaging Het
Vmn1r236 A G 17: 21,507,473 (GRCm39) Y197C possibly damaging Het
Vmn1r79 A G 7: 11,910,382 (GRCm39) Y88C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r61 G A 7: 41,949,613 (GRCm39) V678M probably damaging Het
Wdfy3 A T 5: 102,042,894 (GRCm39) Y1937* probably null 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
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 2014-05-07