Incidental Mutation 'D4043:Ftsj3'
ID247
Institutional Source Beutler Lab
Gene Symbol Ftsj3
Ensembl Gene ENSMUSG00000020706
Gene NameFtsJ RNA methyltransferase homolog 3 (E. coli)
SynonymsD11Ertd400e, C79843, Epcs3
Accession Numbers

Genbank: NM_025310; MGI: 1860295

Is this an essential gene? Probably essential (E-score: 0.932) question?
Stock #D4043 (G3) of strain 483
Quality Score
Status Validated
Chromosome11
Chromosomal Location106249142-106256079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 106254808 bp
ZygosityHomozygous
Amino Acid Change Methionine to Isoleucine at position 66 (M66I)
Ref Sequence ENSEMBL: ENSMUSP00000021048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021048] [ENSMUST00000021049] [ENSMUST00000133131]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021048
AA Change: M66I

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: M66I

DomainStartEndE-ValueType
Pfam:FtsJ 24 200 2.8e-56 PFAM
low complexity region 203 218 N/A INTRINSIC
Pfam:DUF3381 231 398 1.3e-48 PFAM
low complexity region 456 475 N/A INTRINSIC
low complexity region 560 568 N/A INTRINSIC
Pfam:Spb1_C 597 831 1.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021049
SMART Domains Protein: ENSMUSP00000021049
Gene: ENSMUSG00000020708

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
AAA 182 321 6.96e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127803
Predicted Effect probably benign
Transcript: ENSMUST00000133131
SMART Domains Protein: ENSMUSP00000138057
Gene: ENSMUSG00000020708

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
AAA 182 321 6.96e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154635
Meta Mutation Damage Score 0.484 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 72.5%
Validation Efficiency 88% (220/249)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(10) : Targeted(2) Gene trapped(8)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110020G09Rik T A 15: 9,103,385 probably benign Homo
1700029J07Rik A G 8: 45,956,403 V293A probably damaging Het
Adam29 A T 8: 55,872,461 C319* probably null Het
Adgrg1 T C 8: 95,005,229 probably null Homo
Ago3 A T 4: 126,351,003 V630E probably damaging Het
Armc8 G T 9: 99,483,976 N628K probably benign Het
Chd7 A G 4: 8,862,650 D2579G probably damaging Het
Duox1 G A 2: 122,344,795 C1358Y probably benign Het
Fam208a A G 14: 27,471,992 I1050V probably benign Het
Iqub C T 6: 24,505,751 E53K possibly damaging Het
Kirrel T A 3: 87,083,203 T771S probably benign Het
Lrrc66 A T 5: 73,607,526 S725T probably benign Het
Mael T C 1: 166,236,886 I104M probably benign Homo
Mkks C T 2: 136,874,610 V457I probably benign Het
Npas1 T C 7: 16,463,244 probably null Het
Ocrl T C X: 47,936,323 V359A probably benign Homo
Olfr1065 G A 2: 86,445,220 T254M probably damaging Het
Pde6b C T 5: 108,425,356 R531* probably null Het
Polr1a G A 6: 71,941,417 C653Y possibly damaging Het
Rbm26 A G 14: 105,152,540 V216A possibly damaging Het
Rin2 C A 2: 145,822,363 H52Q possibly damaging Het
Ssc5d C T 7: 4,943,983 T1112I possibly damaging Het
Sv2c C T 13: 96,088,481 V107M probably benign Het
Tulp3 G A 6: 128,324,150 S366L probably benign Het
Zfp831 T A 2: 174,645,266 V578E probably benign Homo
Other mutations in Ftsj3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Ftsj3 APN 11 106250179 missense probably damaging 0.99
IGL00964:Ftsj3 APN 11 106253115 missense probably benign 0.00
IGL01025:Ftsj3 APN 11 106250359 missense probably damaging 0.98
IGL01101:Ftsj3 APN 11 106255632 missense probably benign 0.16
IGL01370:Ftsj3 APN 11 106252319 missense possibly damaging 0.79
IGL02000:Ftsj3 APN 11 106250407 missense probably benign 0.03
IGL02139:Ftsj3 APN 11 106254663 missense possibly damaging 0.91
IGL02340:Ftsj3 APN 11 106253146 nonsense probably null
IGL02964:Ftsj3 APN 11 106252337 missense probably damaging 1.00
IGL03136:Ftsj3 APN 11 106253813 missense probably damaging 1.00
LCD18:Ftsj3 UTSW 11 106250059 splice site probably benign
NA:Ftsj3 UTSW 11 106254808 missense possibly damaging 0.91
P0018:Ftsj3 UTSW 11 106254808 missense possibly damaging 0.91
P0027:Ftsj3 UTSW 11 106254808 missense possibly damaging 0.91
R1449:Ftsj3 UTSW 11 106253000 missense probably benign 0.28
R2242:Ftsj3 UTSW 11 106250778 missense probably benign 0.45
R4086:Ftsj3 UTSW 11 106249569 missense probably damaging 1.00
R4356:Ftsj3 UTSW 11 106253676 missense probably benign 0.01
R4358:Ftsj3 UTSW 11 106253676 missense probably benign 0.01
R4943:Ftsj3 UTSW 11 106249518 missense probably damaging 1.00
R5520:Ftsj3 UTSW 11 106255588 missense probably benign 0.05
R5997:Ftsj3 UTSW 11 106252251 missense probably damaging 0.99
R6047:Ftsj3 UTSW 11 106252318 missense probably damaging 0.96
R6180:Ftsj3 UTSW 11 106253340 synonymous probably null
R6771:Ftsj3 UTSW 11 106249540 missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a G to T transversion at position 266 of the Ftsj3 transcript in exon 4 of 21 total exons. Multiple transcripts of the Ftsj3 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a methionine to isoleucine substitution at amino acid 66 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Ftsj3 gene encodes an 838 amino acid putative methyltransferase. S-adenosyl-L-methionine binding may require several regions of the protein including amino acids 28, 76, 55-58, 92-93, and 117 (Uniprot Q9DBE9).
 
The M66A change is predicted to be probably damaging by the PolyPhen program.
Posted On2010-08-09