Incidental Mutation 'P0018:Ftsj3'
ID 7697
Institutional Source Beutler Lab
Gene Symbol Ftsj3
Ensembl Gene ENSMUSG00000020706
Gene Name FtsJ RNA 2'-O-methyltransferase 3
Synonyms D11Ertd400e, C79843, Epcs3
MMRRC Submission 038271-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # P0018 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 106139968-106146905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106145634 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DBE9
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 0.4829 question?
Coding Region Coverage
  • 1x: 83.8%
  • 3x: 77.4%
  • 10x: 57.9%
  • 20x: 38.3%
Validation Efficiency 72% (76/106)
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,429,767 (GRCm39) D407E probably benign Het
Brip1 C T 11: 85,999,694 (GRCm39) V763I possibly damaging Het
Cspg4b A G 13: 113,504,040 (GRCm39) D1723G possibly damaging Het
Cxxc1 C T 18: 74,353,992 (GRCm39) R593C probably damaging Het
Erbb4 T A 1: 68,110,835 (GRCm39) M993L probably benign Het
Galnt2 T A 8: 125,063,350 (GRCm39) Y357N probably damaging Het
Hgsnat C T 8: 26,458,382 (GRCm39) probably benign Het
Katna1 A T 10: 7,617,223 (GRCm39) T72S probably damaging Het
Nell1 A G 7: 49,770,439 (GRCm39) D166G probably damaging Het
Nlgn1 G T 3: 25,490,741 (GRCm39) P329T probably damaging Het
Pclo A T 5: 14,727,735 (GRCm39) probably benign Het
Robo2 T C 16: 73,843,694 (GRCm39) I174V possibly damaging Het
Sufu A G 19: 46,463,933 (GRCm39) probably benign Het
Tmub1 C A 5: 24,651,755 (GRCm39) A55S possibly damaging Het
Other mutations in Ftsj3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Ftsj3 APN 11 106,141,005 (GRCm39) missense probably damaging 0.99
IGL00964:Ftsj3 APN 11 106,143,941 (GRCm39) missense probably benign 0.00
IGL01025:Ftsj3 APN 11 106,141,185 (GRCm39) missense probably damaging 0.98
IGL01101:Ftsj3 APN 11 106,146,458 (GRCm39) missense probably benign 0.16
IGL01370:Ftsj3 APN 11 106,143,145 (GRCm39) missense possibly damaging 0.79
IGL02000:Ftsj3 APN 11 106,141,233 (GRCm39) missense probably benign 0.03
IGL02139:Ftsj3 APN 11 106,145,489 (GRCm39) missense possibly damaging 0.91
IGL02340:Ftsj3 APN 11 106,143,972 (GRCm39) nonsense probably null
IGL02964:Ftsj3 APN 11 106,143,163 (GRCm39) missense probably damaging 1.00
IGL03136:Ftsj3 APN 11 106,144,639 (GRCm39) missense probably damaging 1.00
D4043:Ftsj3 UTSW 11 106,145,634 (GRCm39) missense possibly damaging 0.91
LCD18:Ftsj3 UTSW 11 106,140,885 (GRCm39) splice site probably benign
NA:Ftsj3 UTSW 11 106,145,634 (GRCm39) missense possibly damaging 0.91
P0027:Ftsj3 UTSW 11 106,145,634 (GRCm39) missense possibly damaging 0.91
PIT4581001:Ftsj3 UTSW 11 106,140,302 (GRCm39) missense unknown
R1449:Ftsj3 UTSW 11 106,143,826 (GRCm39) missense probably benign 0.28
R2242:Ftsj3 UTSW 11 106,141,604 (GRCm39) missense probably benign 0.45
R4086:Ftsj3 UTSW 11 106,140,395 (GRCm39) missense probably damaging 1.00
R4356:Ftsj3 UTSW 11 106,144,502 (GRCm39) missense probably benign 0.01
R4358:Ftsj3 UTSW 11 106,144,502 (GRCm39) missense probably benign 0.01
R4943:Ftsj3 UTSW 11 106,140,344 (GRCm39) missense probably damaging 1.00
R5520:Ftsj3 UTSW 11 106,146,414 (GRCm39) missense probably benign 0.05
R5997:Ftsj3 UTSW 11 106,143,077 (GRCm39) missense probably damaging 0.99
R6047:Ftsj3 UTSW 11 106,143,144 (GRCm39) missense probably damaging 0.96
R6180:Ftsj3 UTSW 11 106,144,166 (GRCm39) splice site probably null
R6771:Ftsj3 UTSW 11 106,140,366 (GRCm39) missense probably damaging 1.00
R7121:Ftsj3 UTSW 11 106,143,123 (GRCm39) missense probably damaging 1.00
R7303:Ftsj3 UTSW 11 106,145,506 (GRCm39) missense probably damaging 1.00
R7349:Ftsj3 UTSW 11 106,140,572 (GRCm39) missense probably damaging 1.00
R7559:Ftsj3 UTSW 11 106,143,813 (GRCm39) missense possibly damaging 0.55
R7782:Ftsj3 UTSW 11 106,143,377 (GRCm39) unclassified probably benign
R7783:Ftsj3 UTSW 11 106,143,377 (GRCm39) unclassified probably benign
R7899:Ftsj3 UTSW 11 106,143,115 (GRCm39) nonsense probably null
R8129:Ftsj3 UTSW 11 106,144,657 (GRCm39) missense probably benign 0.03
R8897:Ftsj3 UTSW 11 106,144,602 (GRCm39) missense probably damaging 1.00
R8933:Ftsj3 UTSW 11 106,141,660 (GRCm39) missense probably benign 0.01
R8985:Ftsj3 UTSW 11 106,141,595 (GRCm39) missense possibly damaging 0.82
Nature of Mutation

Multiple transcripts of the Ftsj3 gene are displayed on Ensembl and Vega.

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). FTSJ3 is involved in eukaryotic ribosome biogenesis as an NIP7-interacting protein (1).  NIP7 is a trans-acting factor that interacts with nascent pre-ribosomal particles during ribosome maturation. In vitro, conditional knockdown of FTSJ3 altered cell proliferation and causes pre-rRNA processing defects (1).  Furthermore, FTSJ3 is required for 18S rRNA maturation (1).  98 proteins associated with an affinity-purified FLAG-FTSJ3; 55% are ribosomal protein components of mature ribosomes, 21 proteins are 40S subunit proteins, 10 were components of hnRNPs (2).
References
Posted On 2012-10-29
Science Writer Anne Murray