Incidental Mutation 'R6047:Ftsj3'
ID 483352
Institutional Source Beutler Lab
Gene Symbol Ftsj3
Ensembl Gene ENSMUSG00000020706
Gene Name FtsJ RNA 2'-O-methyltransferase 3
Synonyms D11Ertd400e, C79843, Epcs3
MMRRC Submission 044215-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R6047 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 106139968-106146905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106143144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 390 (R390H)
Ref Sequence ENSEMBL: ENSMUSP00000021048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048] [ENSMUST00000021049] [ENSMUST00000133131]
AlphaFold Q9DBE9
Predicted Effect probably benign
Transcript: ENSMUST00000021046
SMART Domains Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 35 52 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
low complexity region 108 114 N/A INTRINSIC
coiled coil region 116 143 N/A INTRINSIC
low complexity region 149 158 N/A INTRINSIC
DEXDc 272 474 7.61e-68 SMART
HELICc 512 593 1.58e-33 SMART
low complexity region 644 659 N/A INTRINSIC
low complexity region 722 737 N/A INTRINSIC
low complexity region 814 838 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021048
AA Change: R390H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: R390H

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: ENSMUST00000154635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143884
Meta Mutation Damage Score 0.0894 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (36/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,856,066 (GRCm39) I58T probably damaging Het
Adgrb2 G T 4: 129,912,498 (GRCm39) G1208C probably damaging Het
Antxrl T C 14: 33,775,433 (GRCm39) probably benign Het
Appl2 C T 10: 83,448,765 (GRCm39) probably null Het
Bloc1s2 T C 19: 44,130,629 (GRCm39) I112V possibly damaging Het
Cblb G T 16: 51,932,611 (GRCm39) probably null Het
Cdk9 T C 2: 32,598,285 (GRCm39) probably null Het
Dok7 G A 5: 35,236,651 (GRCm39) G206D probably damaging Het
Gpr179 G T 11: 97,229,242 (GRCm39) P971Q probably damaging Het
Hic1 A T 11: 75,057,675 (GRCm39) S405T possibly damaging Het
Ifngr1 T C 10: 19,482,061 (GRCm39) L217P probably damaging Het
Insrr A G 3: 87,711,483 (GRCm39) K468E probably damaging Het
Lce1j G C 3: 92,696,503 (GRCm39) R92G unknown Het
Lrp12 T C 15: 39,735,463 (GRCm39) E823G probably damaging Het
Lrp1b A G 2: 40,527,787 (GRCm39) I98T probably benign Het
Mbd3l2 A T 9: 18,356,212 (GRCm39) H179L possibly damaging Het
Med24 A T 11: 98,598,591 (GRCm39) C691* probably null Het
Mical1 T C 10: 41,357,703 (GRCm39) probably null Het
Msantd2 A T 9: 37,434,738 (GRCm39) Y326F probably damaging Het
Nfyc T A 4: 120,636,314 (GRCm39) probably null Het
Nrg3 T A 14: 38,119,309 (GRCm39) probably null Het
Nt5c3 G A 6: 56,859,964 (GRCm39) S291L probably damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pdia5 T C 16: 35,217,848 (GRCm39) K512E probably damaging Het
Pfpl T C 19: 12,406,597 (GRCm39) F283L probably damaging Het
Pick1 A G 15: 79,139,895 (GRCm39) probably benign Het
Pkd1 T C 17: 24,814,059 (GRCm39) V4143A probably damaging Het
Ptprc C T 1: 138,028,779 (GRCm39) probably null Het
Scn10a A G 9: 119,451,897 (GRCm39) F1342S probably benign Het
Slc17a7 A T 7: 44,822,830 (GRCm39) I436F probably benign Het
Slc34a1 G T 13: 55,559,884 (GRCm39) A403S probably damaging Het
Stmn3 A T 2: 180,950,952 (GRCm39) Y35N possibly damaging Het
Tldc2 A G 2: 156,938,382 (GRCm39) E207G probably damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Uty G T Y: 1,158,288 (GRCm39) P538Q probably damaging Het
Zzef1 A G 11: 72,756,921 (GRCm39) D1142G probably 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
P0018: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
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
Predicted Primers PCR Primer
(F):5'- TGAGCATTCTGGAGTCTCGG -3'
(R):5'- ACACCTTTCGACTGGTTTGC -3'

Sequencing Primer
(F):5'- CATTCTGGAGTCTCGGGTACTC -3'
(R):5'- TGGTTTGCCAGCCTCAGC -3'
Posted On 2017-07-14