Incidental Mutation 'R4059:Mettl13'
ID 314362
Institutional Source Beutler Lab
Gene Symbol Mettl13
Ensembl Gene ENSMUSG00000026694
Gene Name methyltransferase 13, eEF1A lysine and N-terminal methyltransferase
Synonyms Eef1aknmt, 5630401D24Rik
MMRRC Submission 040970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R4059 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 162359694-162376098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 162373755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 165 (H165Q)
Ref Sequence ENSEMBL: ENSMUSP00000028017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028017] [ENSMUST00000159316] [ENSMUST00000159817] [ENSMUST00000176220]
AlphaFold Q91YR5
Predicted Effect probably damaging
Transcript: ENSMUST00000028017
AA Change: H165Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: H165Q

DomainStartEndE-ValueType
Pfam:TPMT 13 172 1e-7 PFAM
Pfam:Ubie_methyltran 38 190 6.6e-7 PFAM
Pfam:Methyltransf_31 46 198 5.3e-13 PFAM
Pfam:Methyltransf_18 48 161 1.1e-10 PFAM
Pfam:Methyltransf_25 52 154 3.7e-9 PFAM
Pfam:Methyltransf_11 53 158 4.1e-16 PFAM
low complexity region 436 452 N/A INTRINSIC
Pfam:Spermine_synth 472 630 7.4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159255
Predicted Effect probably benign
Transcript: ENSMUST00000159316
SMART Domains Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694

DomainStartEndE-ValueType
Pfam:Methyltransf_25 1 101 2.7e-10 PFAM
Pfam:Methyltransf_18 1 102 8e-11 PFAM
Pfam:Methyltransf_31 1 149 1.9e-12 PFAM
Pfam:Methyltransf_11 2 100 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159817
SMART Domains Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694

DomainStartEndE-ValueType
Pfam:TPMT 13 144 4.6e-8 PFAM
Pfam:Methyltransf_31 46 195 3.5e-12 PFAM
Pfam:Methyltransf_18 48 160 5e-11 PFAM
Pfam:Methyltransf_25 52 154 1.1e-9 PFAM
Pfam:Methyltransf_11 53 158 6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161760
Predicted Effect probably benign
Transcript: ENSMUST00000176220
SMART Domains Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694

DomainStartEndE-ValueType
Pfam:Spermine_synth 73 239 1.8e-8 PFAM
Pfam:Methyltransf_18 126 234 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195027
Meta Mutation Damage Score 0.4462 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Agbl3 T C 6: 34,823,834 (GRCm39) L833P probably damaging Het
Amph T C 13: 19,326,168 (GRCm39) S633P probably damaging Het
Aspscr1 T C 11: 120,577,505 (GRCm39) V60A probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
BC051019 C T 7: 109,317,202 (GRCm39) W163* probably null Het
Capza1 T C 3: 104,732,427 (GRCm39) E245G probably damaging Het
Cd81 G T 7: 142,619,030 (GRCm39) C18F probably damaging Het
Cfap45 G T 1: 172,366,056 (GRCm39) R303L probably benign Het
Commd9 T C 2: 101,725,499 (GRCm39) V24A possibly damaging Het
Dennd4a A G 9: 64,819,174 (GRCm39) N1742D possibly damaging Het
Dgat1 G T 15: 76,388,371 (GRCm39) A182D possibly damaging Het
Dlg4 T C 11: 69,917,909 (GRCm39) L64P probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Epb41l4b C T 4: 57,024,337 (GRCm39) probably null Het
Fam13c T C 10: 70,390,338 (GRCm39) L533P probably damaging Het
Fjx1 T C 2: 102,281,066 (GRCm39) T290A possibly damaging Het
Hid1 C T 11: 115,247,565 (GRCm39) E278K probably damaging Het
Hsd3b7 T C 7: 127,400,717 (GRCm39) I57T probably damaging Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Itgae A G 11: 73,002,960 (GRCm39) K175E probably benign Het
Klhl32 T C 4: 24,792,781 (GRCm39) T14A probably damaging Het
Krt23 T C 11: 99,376,614 (GRCm39) T181A probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc36 A G 8: 106,154,428 (GRCm39) E33G probably damaging Het
Mocos G A 18: 24,812,447 (GRCm39) G447D probably damaging Het
Ngef T A 1: 87,413,953 (GRCm39) K399N probably damaging Het
Ntrk1 A G 3: 87,688,786 (GRCm39) L589P probably damaging Het
Or4c104 C T 2: 88,586,795 (GRCm39) V75I probably benign Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Peg10 T G 6: 4,756,427 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,414,156 (GRCm39) H2808Y probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Ptcd2 A G 13: 99,481,084 (GRCm39) C32R probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhoh G A 5: 66,049,931 (GRCm39) S67N probably benign Het
Rnd3 A G 2: 51,038,760 (GRCm39) F43L probably damaging Het
Runx1 A G 16: 92,441,134 (GRCm39) V225A probably benign Het
Runx1t1 T C 4: 13,889,769 (GRCm39) V566A probably benign Het
Sall2 A G 14: 52,552,028 (GRCm39) I387T probably damaging Het
Sec14l1 T A 11: 117,040,024 (GRCm39) V384D possibly damaging Het
Sh3rf3 T C 10: 58,919,355 (GRCm39) C491R probably damaging Het
Slc22a27 T A 19: 7,856,973 (GRCm39) probably benign Het
Spire1 A G 18: 67,678,783 (GRCm39) S53P probably damaging Het
Tmco3 A G 8: 13,370,848 (GRCm39) R671G probably benign Het
Tmpo A G 10: 90,998,123 (GRCm39) S555P probably benign Het
Tnip1 A G 11: 54,802,395 (GRCm39) S638P probably benign Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Ucp3 T C 7: 100,131,871 (GRCm39) Y241H probably damaging Het
Vmn2r96 A G 17: 18,818,339 (GRCm39) I831V probably benign Het
Zan T C 5: 137,435,082 (GRCm39) I2104V unknown Het
Zfp619 A C 7: 39,184,823 (GRCm39) R284S probably benign Het
Zfp715 T C 7: 42,951,155 (GRCm39) M48V probably benign Het
Other mutations in Mettl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Mettl13 APN 1 162,363,434 (GRCm39) missense possibly damaging 0.74
IGL00589:Mettl13 APN 1 162,369,960 (GRCm39) missense probably damaging 1.00
IGL01765:Mettl13 APN 1 162,366,522 (GRCm39) missense probably benign
IGL02200:Mettl13 APN 1 162,366,392 (GRCm39) intron probably benign
IGL02835:Mettl13 UTSW 1 162,373,585 (GRCm39) missense probably damaging 0.97
R0055:Mettl13 UTSW 1 162,373,750 (GRCm39) missense probably damaging 1.00
R0322:Mettl13 UTSW 1 162,371,745 (GRCm39) splice site probably benign
R0390:Mettl13 UTSW 1 162,366,458 (GRCm39) missense possibly damaging 0.51
R0423:Mettl13 UTSW 1 162,371,954 (GRCm39) missense probably damaging 1.00
R0723:Mettl13 UTSW 1 162,361,999 (GRCm39) missense probably damaging 1.00
R1472:Mettl13 UTSW 1 162,364,736 (GRCm39) missense possibly damaging 0.95
R2429:Mettl13 UTSW 1 162,373,894 (GRCm39) nonsense probably null
R3755:Mettl13 UTSW 1 162,371,789 (GRCm39) missense probably damaging 0.97
R3756:Mettl13 UTSW 1 162,371,789 (GRCm39) missense probably damaging 0.97
R4058:Mettl13 UTSW 1 162,373,755 (GRCm39) missense probably damaging 1.00
R4087:Mettl13 UTSW 1 162,375,771 (GRCm39) missense possibly damaging 0.53
R4885:Mettl13 UTSW 1 162,364,837 (GRCm39) missense probably damaging 0.99
R4974:Mettl13 UTSW 1 162,364,789 (GRCm39) missense probably damaging 0.99
R5070:Mettl13 UTSW 1 162,373,468 (GRCm39) missense possibly damaging 0.47
R5447:Mettl13 UTSW 1 162,363,449 (GRCm39) missense probably benign 0.01
R5702:Mettl13 UTSW 1 162,373,549 (GRCm39) missense probably benign 0.00
R6137:Mettl13 UTSW 1 162,363,455 (GRCm39) missense probably benign 0.09
R6570:Mettl13 UTSW 1 162,371,855 (GRCm39) missense probably damaging 0.99
R6754:Mettl13 UTSW 1 162,375,692 (GRCm39) missense probably damaging 1.00
R7340:Mettl13 UTSW 1 162,366,547 (GRCm39) missense probably benign 0.00
R7386:Mettl13 UTSW 1 162,375,723 (GRCm39) missense probably damaging 1.00
R8397:Mettl13 UTSW 1 162,371,887 (GRCm39) missense possibly damaging 0.78
R8557:Mettl13 UTSW 1 162,371,921 (GRCm39) missense possibly damaging 0.90
R8901:Mettl13 UTSW 1 162,373,814 (GRCm39) missense possibly damaging 0.51
R8905:Mettl13 UTSW 1 162,364,847 (GRCm39) missense probably damaging 1.00
R9614:Mettl13 UTSW 1 162,364,769 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATCAGCACTCTCCAGCCTTAC -3'
(R):5'- ACATGACCCAGCTGGAGTTTC -3'

Sequencing Primer
(F):5'- TGAGTACACAGCTCAAAGATCTG -3'
(R):5'- ACCCAGCTGGAGTTTCCTGAC -3'
Posted On 2015-04-30