Incidental Mutation 'R5053:Etfbkmt'
ID 394745
Institutional Source Beutler Lab
Gene Symbol Etfbkmt
Ensembl Gene ENSMUSG00000039958
Gene Name electron transfer flavoprotein beta subunit lysine methyltransferase
Synonyms 4833442J19Rik, Mettl20
MMRRC Submission 042643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5053 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 149042980-149052669 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 149048766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 135 (L135*)
Ref Sequence ENSEMBL: ENSMUSP00000136167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047531] [ENSMUST00000111547] [ENSMUST00000111548] [ENSMUST00000111551] [ENSMUST00000126406] [ENSMUST00000134306] [ENSMUST00000147934] [ENSMUST00000166416] [ENSMUST00000179873]
AlphaFold Q80ZM3
Predicted Effect probably null
Transcript: ENSMUST00000047531
AA Change: L135*
SMART Domains Protein: ENSMUSP00000042102
Gene: ENSMUSG00000039958
AA Change: L135*

DomainStartEndE-ValueType
Pfam:Methyltransf_16 86 216 2.1e-10 PFAM
Pfam:MTS 91 189 1e-7 PFAM
Pfam:PrmA 94 180 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111547
Predicted Effect probably benign
Transcript: ENSMUST00000111548
Predicted Effect probably null
Transcript: ENSMUST00000111551
AA Change: L135*
SMART Domains Protein: ENSMUSP00000107176
Gene: ENSMUSG00000039958
AA Change: L135*

DomainStartEndE-ValueType
Pfam:Methyltransf_16 86 218 1.9e-10 PFAM
Pfam:MTS 91 187 1.1e-7 PFAM
Pfam:PrmA 94 180 1.5e-12 PFAM
Pfam:Methyltransf_26 109 214 4.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126406
Predicted Effect probably null
Transcript: ENSMUST00000134306
AA Change: L135*
SMART Domains Protein: ENSMUSP00000118701
Gene: ENSMUSG00000039958
AA Change: L135*

DomainStartEndE-ValueType
Pfam:Methyltransf_16 85 158 1.3e-7 PFAM
Pfam:PrmA 94 159 2e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147934
AA Change: L8*
SMART Domains Protein: ENSMUSP00000144830
Gene: ENSMUSG00000039958
AA Change: L8*

DomainStartEndE-ValueType
SCOP:d1f3la_ 2 100 4e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166416
AA Change: L135*
SMART Domains Protein: ENSMUSP00000126521
Gene: ENSMUSG00000039958
AA Change: L135*

DomainStartEndE-ValueType
Pfam:Methyltransf_16 85 159 1.3e-7 PFAM
Pfam:PrmA 94 164 1.4e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179873
AA Change: L135*
SMART Domains Protein: ENSMUSP00000136167
Gene: ENSMUSG00000039958
AA Change: L135*

DomainStartEndE-ValueType
Pfam:Methyltransf_16 86 218 1.9e-10 PFAM
Pfam:MTS 91 187 1.1e-7 PFAM
Pfam:PrmA 94 180 1.5e-12 PFAM
Pfam:Methyltransf_26 109 214 4.6e-8 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A T 15: 101,035,250 (GRCm39) I259F probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Adsl T C 15: 80,844,651 (GRCm39) C180R probably damaging Het
Ahctf1 A G 1: 179,614,349 (GRCm39) I448T possibly damaging Het
Alg9 G T 9: 50,699,472 (GRCm39) G200W probably damaging Het
Amhr2 G A 15: 102,355,693 (GRCm39) V213I probably damaging Het
Ankrd44 A T 1: 54,774,248 (GRCm39) L200* probably null Het
As3mt A G 19: 46,697,493 (GRCm39) Y87C probably damaging Het
Bcl11a C A 11: 24,114,068 (GRCm39) F470L probably benign Het
Cacna2d2 A T 9: 107,392,063 (GRCm39) Y468F probably damaging Het
Cep250 A G 2: 155,804,848 (GRCm39) D71G possibly damaging Het
Clca4b T C 3: 144,616,882 (GRCm39) T923A probably benign Het
Clec16a T C 16: 10,394,461 (GRCm39) L273P probably damaging Het
Comtd1 T C 14: 21,897,764 (GRCm39) D123G probably damaging Het
Cpa5 A T 6: 30,623,271 (GRCm39) E144V probably damaging Het
Cyp2c37 G A 19: 39,990,331 (GRCm39) S343N probably benign Het
Dennd6a C A 14: 26,329,738 (GRCm39) T103K probably damaging Het
Ect2l A G 10: 18,016,093 (GRCm39) L733P probably damaging Het
Erg T A 16: 95,325,393 (GRCm39) H11L probably benign Het
Ero1b T C 13: 12,614,795 (GRCm39) L253P probably damaging Het
Frmd4a A T 2: 4,608,732 (GRCm39) T867S probably damaging Het
Gm815 C T 19: 26,863,813 (GRCm39) A18V unknown Het
Gna12 C A 5: 140,746,482 (GRCm39) R321L probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Irs1 A G 1: 82,264,643 (GRCm39) L1191P probably benign Het
Kcp G T 6: 29,496,957 (GRCm39) Q551K probably benign Het
Klhl11 C T 11: 100,363,026 (GRCm39) V177M probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llcfc1 A G 6: 41,662,269 (GRCm39) H91R possibly damaging Het
Lmnb2 A T 10: 80,740,489 (GRCm39) M223K probably damaging Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Mme T A 3: 63,272,270 (GRCm39) V623E probably damaging Het
Ndc1 T C 4: 107,231,415 (GRCm39) S119P probably damaging Het
Nfs1 A C 2: 155,968,318 (GRCm39) C383G probably damaging Het
Nphp4 A G 4: 152,628,919 (GRCm39) probably null Het
Oca2 C A 7: 55,973,328 (GRCm39) Q411K probably benign Het
Or10ab4 A G 7: 107,654,741 (GRCm39) H184R probably benign Het
Or11h23 T A 14: 50,947,968 (GRCm39) Y60* probably null Het
Or1ad1 G A 11: 50,876,137 (GRCm39) G203D probably damaging Het
Or4c15 C A 2: 88,760,597 (GRCm39) V21F probably benign Het
Or8k25 A G 2: 86,243,682 (GRCm39) F238S probably damaging Het
Pcdh7 A T 5: 57,878,943 (GRCm39) T493S probably damaging Het
Phf20 T C 2: 156,115,782 (GRCm39) S368P probably benign Het
Pla2g2e T G 4: 138,607,686 (GRCm39) V22G possibly damaging Het
Plxna1 A T 6: 89,299,442 (GRCm39) H1736Q probably damaging Het
Prlr C A 15: 10,325,471 (GRCm39) Q215K probably benign Het
Prpf6 T C 2: 181,291,246 (GRCm39) V687A probably benign Het
Ptprq T A 10: 107,399,063 (GRCm39) T1951S probably damaging Het
Sec31a G T 5: 100,541,073 (GRCm39) Q345K possibly damaging Het
Serpina3k T C 12: 104,309,473 (GRCm39) probably null Het
Sertad3 T A 7: 27,175,947 (GRCm39) V127E probably benign Het
Sf3b1 A T 1: 55,036,336 (GRCm39) N912K probably benign Het
Shq1 A G 6: 100,632,220 (GRCm39) L202P probably damaging Het
Sp8 C T 12: 118,813,339 (GRCm39) T398M probably damaging Het
Tmem150c A T 5: 100,231,599 (GRCm39) D125E probably benign Het
Trim3 G T 7: 105,266,968 (GRCm39) D470E probably damaging Het
Ubap1 T A 4: 41,387,315 (GRCm39) C88* probably null Het
Unc79 T A 12: 103,071,007 (GRCm39) D1124E probably damaging Het
Usf3 T C 16: 44,037,550 (GRCm39) S677P probably benign Het
Vmn1r76 T C 7: 11,664,241 (GRCm39) probably null Het
Zfp819 C T 7: 43,266,570 (GRCm39) T275I probably damaging Het
Zranb2 T A 3: 157,246,796 (GRCm39) D161E probably damaging Het
Other mutations in Etfbkmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02455:Etfbkmt APN 6 149,048,724 (GRCm39) missense probably damaging 1.00
IGL03149:Etfbkmt APN 6 149,045,781 (GRCm39) missense probably damaging 1.00
R0450:Etfbkmt UTSW 6 149,052,082 (GRCm39) missense probably benign 0.02
R0510:Etfbkmt UTSW 6 149,052,082 (GRCm39) missense probably benign 0.02
R1862:Etfbkmt UTSW 6 149,045,649 (GRCm39) start codon destroyed probably null 0.95
R4111:Etfbkmt UTSW 6 149,046,089 (GRCm39) intron probably benign
R4112:Etfbkmt UTSW 6 149,046,089 (GRCm39) intron probably benign
R4786:Etfbkmt UTSW 6 149,048,744 (GRCm39) start codon destroyed probably benign 0.01
R5304:Etfbkmt UTSW 6 149,048,704 (GRCm39) missense probably damaging 1.00
R5780:Etfbkmt UTSW 6 149,048,657 (GRCm39) missense probably damaging 1.00
R9217:Etfbkmt UTSW 6 149,045,663 (GRCm39) missense probably benign 0.01
R9561:Etfbkmt UTSW 6 149,045,640 (GRCm39) start gained probably benign
R9617:Etfbkmt UTSW 6 149,045,744 (GRCm39) missense probably benign 0.02
Z1177:Etfbkmt UTSW 6 149,045,835 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTACTGCTACAGGCCAGG -3'
(R):5'- CTGGCAAACAAATCAAATCCTCTTG -3'

Sequencing Primer
(F):5'- TACAGGCCAGGTAGGTTCTCTAC -3'
(R):5'- AATCCTCTTGGGGAAATGAGCCC -3'
Posted On 2016-06-15