Incidental Mutation 'IGL03149:Etfbkmt'
ID 411018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etfbkmt
Ensembl Gene ENSMUSG00000039958
Gene Name electron transfer flavoprotein beta subunit lysine methyltransferase
Synonyms 4833442J19Rik, Mettl20
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03149
Quality Score
Status
Chromosome 6
Chromosomal Location 149042980-149052669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149045781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000107173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047531] [ENSMUST00000111547] [ENSMUST00000111548] [ENSMUST00000111551] [ENSMUST00000126406] [ENSMUST00000134306] [ENSMUST00000166416] [ENSMUST00000179873] [ENSMUST00000147934]
AlphaFold Q80ZM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000047531
AA Change: E45G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042102
Gene: ENSMUSG00000039958
AA Change: E45G

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 damaging
Transcript: ENSMUST00000111547
AA Change: E45G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000111548
AA Change: E45G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000111551
AA Change: E45G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107176
Gene: ENSMUSG00000039958
AA Change: E45G

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 possibly damaging
Transcript: ENSMUST00000126406
AA Change: E45G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000134306
AA Change: E45G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118701
Gene: ENSMUSG00000039958
AA Change: E45G

DomainStartEndE-ValueType
Pfam:Methyltransf_16 85 158 1.3e-7 PFAM
Pfam:PrmA 94 159 2e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166416
AA Change: E45G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126521
Gene: ENSMUSG00000039958
AA Change: E45G

DomainStartEndE-ValueType
Pfam:Methyltransf_16 85 159 1.3e-7 PFAM
Pfam:PrmA 94 164 1.4e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179873
AA Change: E45G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136167
Gene: ENSMUSG00000039958
AA Change: E45G

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: ENSMUST00000147934
SMART Domains Protein: ENSMUSP00000144830
Gene: ENSMUSG00000039958

DomainStartEndE-ValueType
SCOP:d1f3la_ 2 100 4e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 78,136,167 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,008,085 (GRCm39) I546T possibly damaging Het
Arsj A T 3: 126,233,053 (GRCm39) probably benign Het
Ash2l A G 8: 26,308,650 (GRCm39) V543A probably benign Het
B4galnt3 A G 6: 120,208,555 (GRCm39) probably benign Het
Blvra T A 2: 126,924,871 (GRCm39) V11E probably damaging Het
Calcb T C 7: 114,319,371 (GRCm39) L51P probably damaging Het
Cd36 T A 5: 18,025,563 (GRCm39) K52N probably benign Het
Cebpz T C 17: 79,229,982 (GRCm39) N857S probably benign Het
Ces1b A G 8: 93,791,502 (GRCm39) probably benign Het
Clspn T C 4: 126,470,295 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,674 (GRCm39) L283H probably damaging Het
Ctc1 T C 11: 68,921,987 (GRCm39) V811A possibly damaging Het
Ctsk T C 3: 95,408,730 (GRCm39) S65P possibly damaging Het
Ddx51 A G 5: 110,801,600 (GRCm39) N83D probably benign Het
Eci2 T C 13: 35,172,296 (GRCm39) T146A probably benign Het
Erbin T C 13: 103,977,671 (GRCm39) N629D possibly damaging Het
Fat4 A G 3: 39,045,834 (GRCm39) N3951S probably damaging Het
Fktn T C 4: 53,744,653 (GRCm39) V311A probably benign Het
Garem1 G T 18: 21,264,523 (GRCm39) P534T probably damaging Het
Gm8237 A G 14: 5,864,451 (GRCm38) I37T probably benign Het
Ikzf5 T C 7: 130,998,494 (GRCm39) K13E probably damaging Het
Kl T A 5: 150,906,200 (GRCm39) C523* probably null Het
Klhl7 G A 5: 24,364,687 (GRCm39) V574I probably benign Het
Lyst T C 13: 13,856,029 (GRCm39) V2450A probably benign Het
Map3k6 A T 4: 132,976,999 (GRCm39) I819F probably damaging Het
Mphosph9 T C 5: 124,401,074 (GRCm39) E891G probably damaging Het
Myo7b A G 18: 32,147,355 (GRCm39) S63P probably damaging Het
Ndufaf7 C T 17: 79,252,439 (GRCm39) R283C possibly damaging Het
Nepro G T 16: 44,547,462 (GRCm39) A60S probably damaging Het
Nop56 T C 2: 130,119,445 (GRCm39) S354P probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Or4a80 T C 2: 89,583,172 (GRCm39) probably null Het
Or52ad1 A T 7: 102,996,056 (GRCm39) H26Q probably benign Het
Pacsin3 T A 2: 91,091,852 (GRCm39) probably benign Het
Parp12 C T 6: 39,091,165 (GRCm39) D142N probably benign Het
Pcdh15 G A 10: 74,466,527 (GRCm39) D1449N probably damaging Het
Pcsk7 C T 9: 45,820,778 (GRCm39) T70M probably benign Het
Pld4 T C 12: 112,733,263 (GRCm39) F280L probably benign Het
Ppm1k C A 6: 57,501,759 (GRCm39) A135S probably damaging Het
Prkcq A T 2: 11,237,356 (GRCm39) Y45F probably benign Het
Prom1 T A 5: 44,187,076 (GRCm39) I385F probably damaging Het
Prss12 A G 3: 123,299,036 (GRCm39) N603D probably benign Het
Ptbp2 G T 3: 119,514,074 (GRCm39) T501K possibly damaging Het
Ranbp17 C A 11: 33,193,183 (GRCm39) R957L possibly damaging Het
Rasl10a T C 11: 5,008,429 (GRCm39) Y42H possibly damaging Het
Serpina9 G A 12: 103,974,869 (GRCm39) Q95* probably null Het
Serpinb1b C A 13: 33,269,275 (GRCm39) Q3K possibly damaging Het
Sgo2b T A 8: 64,379,617 (GRCm39) M1072L probably benign Het
Slc1a5 T C 7: 16,523,745 (GRCm39) V250A probably damaging Het
Slc30a6 T C 17: 74,730,018 (GRCm39) S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 (GRCm39) I209N probably benign Het
Tmc4 T A 7: 3,670,177 (GRCm39) I484L probably benign Het
Ttll5 G A 12: 85,965,758 (GRCm39) E36K probably damaging Het
Unc93b1 A G 19: 3,994,041 (GRCm39) M391V probably benign Het
Xpo5 T A 17: 46,526,740 (GRCm39) probably null Het
Other mutations in Etfbkmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02455:Etfbkmt APN 6 149,048,724 (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
R5053:Etfbkmt UTSW 6 149,048,766 (GRCm39) nonsense probably null
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
Posted On 2016-08-02