Incidental Mutation 'R3755:Mettl13'
ID 271369
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 040738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R3755 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 162359694-162376098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162371789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 360 (E360G)
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: E360G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: E360G

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 unknown
Transcript: ENSMUST00000159316
AA Change: S156G
SMART Domains Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: S156G

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 unknown
Transcript: ENSMUST00000159817
AA Change: S201G
SMART Domains Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: S201G

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
AA Change: E48G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694
AA Change: E48G

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 0.1430 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik C A 10: 29,098,110 (GRCm39) S169Y probably damaging Het
Abcb1a G A 5: 8,797,403 (GRCm39) V1225M possibly damaging Het
Adamdec1 A T 14: 68,814,587 (GRCm39) I130N probably damaging Het
Atf7ip T A 6: 136,537,815 (GRCm39) N357K probably benign Het
Bace2 C G 16: 97,237,857 (GRCm39) T436R probably benign Het
Capn13 G A 17: 73,638,114 (GRCm39) Q430* probably null Het
Ccdc30 A T 4: 119,225,005 (GRCm39) probably null Het
Ces5a T C 8: 94,255,130 (GRCm39) T184A probably benign Het
Cntnap5c T C 17: 58,411,594 (GRCm39) C493R possibly damaging Het
Creb3l2 A T 6: 37,340,961 (GRCm39) I146N possibly damaging Het
Erich3 A G 3: 154,469,958 (GRCm39) probably benign Het
Etl4 G A 2: 20,748,348 (GRCm39) V27I probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fsip2 G A 2: 82,808,561 (GRCm39) D1627N probably benign Het
Gcdh A G 8: 85,620,109 (GRCm39) probably benign Het
Kcna7 T C 7: 45,058,369 (GRCm39) F219L probably benign Het
Kdm3b T C 18: 34,941,349 (GRCm39) L280S probably benign Het
Knl1 T A 2: 118,933,060 (GRCm39) V2073D probably damaging Het
Kprp A G 3: 92,732,346 (GRCm39) S235P unknown Het
Lpp A G 16: 24,663,911 (GRCm39) H396R probably benign Het
Lrch4 T A 5: 137,635,992 (GRCm39) D348E probably damaging Het
Mcm9 T C 10: 53,502,048 (GRCm39) N179S probably benign Het
Nfib A T 4: 82,241,936 (GRCm39) S418R probably damaging Het
Or52b1 A G 7: 104,979,358 (GRCm39) F14L probably damaging Het
Or8s2 A C 15: 98,276,463 (GRCm39) I176S probably benign Het
Pcdha8 G A 18: 37,126,741 (GRCm39) V408M probably damaging Het
Pcdhb3 T C 18: 37,435,878 (GRCm39) F615L probably damaging Het
Pkd1l3 C T 8: 110,359,171 (GRCm39) T844I probably damaging Het
Pkhd1l1 A T 15: 44,452,802 (GRCm39) E3909V probably damaging Het
Poldip3 A G 15: 83,015,676 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,816,143 (GRCm39) I219T probably damaging Het
Rad18 T C 6: 112,670,432 (GRCm39) N44S probably damaging Het
Reep5 T C 18: 34,505,527 (GRCm39) Y48C probably damaging Het
Rgl2 C A 17: 34,151,571 (GRCm39) A205D probably benign Het
Rundc3a A G 11: 102,290,085 (GRCm39) I175V possibly damaging Het
Slamf1 C T 1: 171,604,728 (GRCm39) A166V probably damaging Het
Slc4a5 A G 6: 83,265,285 (GRCm39) D693G probably benign Het
Snap23 T A 2: 120,416,726 (GRCm39) C79S probably damaging Het
Spag6l A C 16: 16,580,884 (GRCm39) probably null Het
Trappc13 C T 13: 104,305,068 (GRCm39) D40N probably benign Het
Trav4-3 C A 14: 53,836,596 (GRCm39) S20R probably benign Het
Tssk2 G A 16: 17,716,827 (GRCm39) E77K probably damaging Het
Ubap2 A G 4: 41,195,482 (GRCm39) F1051S probably damaging Het
Ugt3a1 A G 15: 9,367,498 (GRCm39) T414A probably benign Het
Urod C T 4: 116,850,601 (GRCm39) C66Y probably damaging Het
Vmn1r234 A G 17: 21,449,271 (GRCm39) K62E probably damaging Het
Wiz A G 17: 32,578,106 (GRCm39) S460P probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb7a C T 10: 80,980,100 (GRCm39) T98M probably damaging Het
Zfp524 C A 7: 5,020,884 (GRCm39) H137Q probably damaging 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
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
R4059: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'- ATGTGTCTCTGTCATAACGCT -3'
(R):5'- TAGACATCGACTGTGGGCCTT -3'

Sequencing Primer
(F):5'- GTCATAACGCTTTGCTCTCATCTG -3'
(R):5'- GTGGGCCTTGAACATTTCACCAG -3'
Posted On 2015-03-18