Incidental Mutation 'R8397:Mettl13'
ID 647633
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 067760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R8397 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 162359694-162376098 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 162371887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 327 (S327R)
Ref Sequence ENSEMBL: ENSMUSP00000028017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028017] [ENSMUST00000159316] [ENSMUST00000159817] [ENSMUST00000176220]
AlphaFold Q91YR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000028017
AA Change: S327R

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028017
Gene: ENSMUSG00000026694
AA Change: S327R

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 unknown
Transcript: ENSMUST00000159316
AA Change: V123E
SMART Domains Protein: ENSMUSP00000135822
Gene: ENSMUSG00000026694
AA Change: V123E

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
AA Change: V168E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124267
Gene: ENSMUSG00000026694
AA Change: V168E

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 probably damaging
Transcript: ENSMUST00000176220
AA Change: S15R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135879
Gene: ENSMUSG00000026694
AA Change: S15R

DomainStartEndE-ValueType
Pfam:Spermine_synth 73 239 1.8e-8 PFAM
Pfam:Methyltransf_18 126 234 1.3e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,767,141 (GRCm39) T499A probably benign Het
Ahsa1 G T 12: 87,320,451 (GRCm39) E311* probably null Het
Apol9a C T 15: 77,288,813 (GRCm39) V185I probably benign Het
Arhgap27 T A 11: 103,224,073 (GRCm39) D580V probably damaging Het
Arpp21 A C 9: 111,978,440 (GRCm39) S298A possibly damaging Het
B4galnt2 T A 11: 95,756,989 (GRCm39) T481S probably benign Het
Cct8 G A 16: 87,290,651 (GRCm39) R59C possibly damaging Het
Cdhr5 C T 7: 140,851,801 (GRCm39) G501E possibly damaging Het
Chka G A 19: 3,902,414 (GRCm39) probably null Het
Cit C A 5: 116,024,856 (GRCm39) N366K probably benign Het
Dennd4a A T 9: 64,796,391 (GRCm39) M806L probably benign Het
Dhx9 T A 1: 153,344,657 (GRCm39) H510L probably damaging Het
Esyt3 C T 9: 99,209,966 (GRCm39) V305I probably benign Het
Fbxo40 A T 16: 36,790,985 (GRCm39) C42S probably damaging Het
Fbxw26 T C 9: 109,561,715 (GRCm39) M160V probably damaging Het
Frem2 A G 3: 53,560,562 (GRCm39) V1315A probably benign Het
Gbp9 T A 5: 105,231,464 (GRCm39) N374I possibly damaging Het
Gm11992 T G 11: 9,011,305 (GRCm39) S249A probably damaging Het
Gm14418 T A 2: 177,079,086 (GRCm39) Q303L probably damaging Het
Hectd4 C A 5: 121,397,957 (GRCm39) P295Q probably damaging Het
Kdm2b T C 5: 123,018,579 (GRCm39) N954D probably benign Het
Klf15 C T 6: 90,443,778 (GRCm39) H118Y probably damaging Het
Lrit2 G T 14: 36,791,034 (GRCm39) A238S probably damaging Het
Man2c1 A C 9: 57,042,783 (GRCm39) M218L probably benign Het
Map3k1 T A 13: 111,892,138 (GRCm39) H1039L probably damaging Het
Map3k9 A G 12: 81,769,136 (GRCm39) S971P probably benign Het
Map4k3 C T 17: 80,971,446 (GRCm39) V74I probably damaging Het
Mars1 A T 10: 127,136,368 (GRCm39) S486T possibly damaging Het
Mkks G A 2: 136,722,923 (GRCm39) T78M possibly damaging Het
Mst1 C T 9: 107,958,698 (GRCm39) probably benign Het
Myh1 G T 11: 67,112,465 (GRCm39) A1811S probably damaging Het
Myh13 A G 11: 67,241,113 (GRCm39) H830R possibly damaging Het
Nek4 A G 14: 30,692,505 (GRCm39) D443G possibly damaging Het
Nf1 T C 11: 79,438,518 (GRCm39) L137P probably damaging Het
Nipsnap3b T C 4: 53,012,049 (GRCm39) probably null Het
Nos1ap G T 1: 170,155,194 (GRCm39) P220T unknown Het
Nrxn3 T A 12: 90,298,583 (GRCm39) I368N probably benign Het
Nup133 T A 8: 124,649,156 (GRCm39) Q562L probably benign Het
Nup214 T A 2: 31,880,266 (GRCm39) L342Q probably damaging Het
Nxn A G 11: 76,163,232 (GRCm39) S264P probably damaging Het
Or11g24 G T 14: 50,662,137 (GRCm39) D54Y probably damaging Het
Otud4 T C 8: 80,395,927 (GRCm39) S567P probably benign Het
Patl2 A C 2: 121,955,754 (GRCm39) S261A probably damaging Het
Pcdh15 C T 10: 74,126,865 (GRCm39) P315S probably damaging Het
Pcm1 T A 8: 41,736,616 (GRCm39) H827Q probably damaging Het
Pirb G A 7: 3,719,045 (GRCm39) L615F probably damaging Het
Ppp1r12c T A 7: 4,492,768 (GRCm39) H236L probably damaging Het
Prkd1 C T 12: 50,439,675 (GRCm39) G384E probably benign Het
Rmnd1 C A 10: 4,377,278 (GRCm39) E134* probably null Het
Rusc2 T A 4: 43,424,206 (GRCm39) H1090Q possibly damaging Het
Sema5b A C 16: 35,471,691 (GRCm39) Y428S possibly damaging Het
Slc2a8 T A 2: 32,866,010 (GRCm39) I301L probably benign Het
Slc38a11 C T 2: 65,160,635 (GRCm39) V320M probably damaging Het
Slc4a5 G T 6: 83,266,308 (GRCm39) probably null Het
Slc7a6 T C 8: 106,920,165 (GRCm39) I320T probably damaging Het
Slc8a3 A G 12: 81,246,542 (GRCm39) I837T probably benign Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Tlr3 A T 8: 45,851,896 (GRCm39) F334I possibly damaging Het
Unc13b A G 4: 43,217,290 (GRCm39) I530V probably benign Het
Vmn2r68 T C 7: 84,886,722 (GRCm39) D64G possibly damaging Het
Zfp157 T A 5: 138,454,518 (GRCm39) Y239N 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
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
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
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'- GGTCCTACCCTCTAAAGGCTTC -3'
(R):5'- TGCTAACCTCTCTGTGGGTC -3'

Sequencing Primer
(F):5'- CAGTGGAAGCTGCTGTCAG -3'
(R):5'- TCTCTGTGGGTCACGGGAC -3'
Posted On 2020-09-02