Incidental Mutation 'R5819:Mettl21c'
ID 449196
Institutional Source Beutler Lab
Gene Symbol Mettl21c
Ensembl Gene ENSMUSG00000047343
Gene Name methyltransferase 21C, AARS1 lysine
Synonyms A530098C11Rik
MMRRC Submission 043399-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5819 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 44048568-44059194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44048882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 222 (K222Q)
Ref Sequence ENSEMBL: ENSMUSP00000061229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061421]
AlphaFold Q8BLU2
Predicted Effect probably damaging
Transcript: ENSMUST00000061421
AA Change: K222Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061229
Gene: ENSMUSG00000047343
AA Change: K222Q

DomainStartEndE-ValueType
Pfam:PrmA 50 163 4.6e-6 PFAM
Pfam:Methyltransf_16 56 224 3.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162750
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,930,630 (GRCm39) I1376F probably damaging Het
Aggf1 T C 13: 95,488,129 (GRCm39) N673D possibly damaging Het
Avil T C 10: 126,845,867 (GRCm39) F372S probably damaging Het
Bltp1 A T 3: 37,102,749 (GRCm39) M4863L probably benign Het
Bod1l T A 5: 41,989,948 (GRCm39) E258D probably benign Het
Chek1 T A 9: 36,621,701 (GRCm39) H420L probably benign Het
Cyfip1 A G 7: 55,528,899 (GRCm39) I260M probably damaging Het
Dclk1 G A 3: 55,397,285 (GRCm39) V524I probably damaging Het
Efr3b T C 12: 4,042,965 (GRCm39) M102V probably benign Het
Erc2 T A 14: 27,863,326 (GRCm39) I517N probably damaging Het
Fubp1 T C 3: 151,926,190 (GRCm39) I305T probably damaging Het
Galc T A 12: 98,182,520 (GRCm39) D443V probably benign Het
Galnt4 T A 10: 98,945,892 (GRCm39) I539N probably damaging Het
Gm17093 G T 14: 44,758,986 (GRCm39) M169I unknown Het
Htra1 T C 7: 130,583,469 (GRCm39) F363S probably damaging Het
Itprid1 A T 6: 55,874,876 (GRCm39) K275N probably benign Het
Klhdc8b G A 9: 108,328,261 (GRCm39) P64S probably benign Het
Kmt2c A G 5: 25,614,130 (GRCm39) probably null Het
Mga A C 2: 119,771,744 (GRCm39) M1535L possibly damaging Het
Mov10 C T 3: 104,708,828 (GRCm39) G395D probably damaging Het
Ms4a10 C A 19: 10,946,054 (GRCm39) A26S probably benign Het
Mtcl3 A T 10: 29,073,269 (GRCm39) M854L probably benign Het
Naaladl1 A G 19: 6,159,684 (GRCm39) N372D possibly damaging Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or4f52 A T 2: 111,061,304 (GRCm39) I278N probably damaging Het
Osmr C A 15: 6,845,268 (GRCm39) V833L probably benign Het
Phf14 A G 6: 11,997,251 (GRCm39) probably null Het
Pjvk A G 2: 76,488,713 (GRCm39) I295V probably benign Het
Plppr4 T A 3: 117,119,513 (GRCm39) I299L possibly damaging Het
Prkg1 A G 19: 31,563,072 (GRCm39) S110P probably benign Het
Ptprq T A 10: 107,555,744 (GRCm39) probably benign Het
Rarb T G 14: 16,443,820 (GRCm38) N156T possibly damaging Het
Rgl3 A T 9: 21,892,898 (GRCm39) probably null Het
Ruvbl1 A C 6: 88,460,097 (GRCm39) probably null Het
S1pr1 G T 3: 115,505,789 (GRCm39) C268* probably null Het
Sbk3 T C 7: 4,972,996 (GRCm39) D58G probably benign Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tas2r119 T C 15: 32,177,452 (GRCm39) L6P probably damaging Het
Tcp11 A T 17: 28,288,210 (GRCm39) F339L probably damaging Het
Tdpoz8 A G 3: 92,981,039 (GRCm39) Y19C probably damaging Het
Tmprss5 T A 9: 49,025,779 (GRCm39) probably null Het
Trnau1ap A G 4: 132,052,521 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,038,873 (GRCm39) R1397* probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn2r13 T A 5: 109,321,966 (GRCm39) M244L possibly damaging Het
Zfp777 C T 6: 48,014,522 (GRCm39) E395K probably damaging Het
Zfyve27 A G 19: 42,171,935 (GRCm39) S156G probably benign Het
Other mutations in Mettl21c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Mettl21c UTSW 1 44,052,814 (GRCm39) missense probably damaging 1.00
R1497:Mettl21c UTSW 1 44,048,951 (GRCm39) missense probably benign 0.02
R1530:Mettl21c UTSW 1 44,056,344 (GRCm39) critical splice donor site probably null
R1952:Mettl21c UTSW 1 44,056,368 (GRCm39) missense probably damaging 0.98
R2316:Mettl21c UTSW 1 44,052,792 (GRCm39) missense probably damaging 1.00
R4275:Mettl21c UTSW 1 44,049,716 (GRCm39) missense probably damaging 0.99
R7117:Mettl21c UTSW 1 44,049,808 (GRCm39) missense probably damaging 1.00
R9179:Mettl21c UTSW 1 44,049,142 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAGAGGAACCCACCTGTTTATTTAC -3'
(R):5'- AAGACCTGGAGCAGAGCTTC -3'

Sequencing Primer
(F):5'- GTGCTTAATACATTGGAAAGTCATG -3'
(R):5'- TGGAGCAGAGCTTCCCTAAGTC -3'
Posted On 2016-12-20