Incidental Mutation 'IGL02000:Ftsj3'
ID 182993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ftsj3
Ensembl Gene ENSMUSG00000020706
Gene Name FtsJ RNA 2'-O-methyltransferase 3
Synonyms D11Ertd400e, C79843, Epcs3
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL02000
Quality Score
Status
Chromosome 11
Chromosomal Location 106139968-106146905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106141233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 629 (R629Q)
Ref Sequence ENSEMBL: ENSMUSP00000021048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048]
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 benign
Transcript: ENSMUST00000021048
AA Change: R629Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: R629Q

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 noncoding transcript
Transcript: ENSMUST00000126938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154635
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,358,578 (GRCm39) F450S probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Cd101 G A 3: 100,919,398 (GRCm39) P568L probably benign Het
Cdkl4 T C 17: 80,851,192 (GRCm39) E170G probably damaging Het
Chit1 A G 1: 134,074,413 (GRCm39) E240G probably benign Het
Duox2 T C 2: 122,121,190 (GRCm39) T741A probably benign Het
Eef2 T C 10: 81,015,845 (GRCm39) V427A probably benign Het
Ewsr1 T C 11: 5,038,077 (GRCm39) D105G probably damaging Het
Gm10406 C T 14: 18,341,703 (GRCm39) G181E probably benign Het
Ilk A G 7: 105,390,376 (GRCm39) H185R probably benign Het
Lamc1 A T 1: 153,116,179 (GRCm39) C1001S probably damaging Het
Mcidas T C 13: 113,133,974 (GRCm39) S153P probably benign Het
Mtcl1 T C 17: 66,661,185 (GRCm39) E931G probably benign Het
Myo10 C T 15: 25,808,152 (GRCm39) R1925C probably damaging Het
Notch3 A G 17: 32,341,716 (GRCm39) V2012A probably damaging Het
Or6c76 C A 10: 129,611,938 (GRCm39) H67N probably benign Het
Parp6 A G 9: 59,556,175 (GRCm39) M542V probably benign Het
Rab27a G A 9: 72,992,254 (GRCm39) G94D probably damaging Het
Ralgapb A G 2: 158,296,034 (GRCm39) probably benign Het
Rassf4 T C 6: 116,622,933 (GRCm39) E26G probably benign Het
Rnf166 C T 8: 123,193,961 (GRCm39) D221N probably damaging Het
Rptn G T 3: 93,303,735 (GRCm39) G356V probably benign Het
Rwdd2b T A 16: 87,233,828 (GRCm39) probably benign Het
Scfd1 T A 12: 51,460,900 (GRCm39) S337T probably benign Het
Sel1l3 T A 5: 53,302,835 (GRCm39) D678V probably damaging Het
Sidt1 A T 16: 44,106,732 (GRCm39) F233I probably damaging Het
Slc12a4 T C 8: 106,671,864 (GRCm39) D917G probably damaging Het
Slc22a2 A T 17: 12,803,270 (GRCm39) I35F possibly damaging Het
Smco1 A T 16: 32,092,751 (GRCm39) T141S possibly damaging Het
Svs6 T C 2: 164,159,352 (GRCm39) probably benign Het
Syne2 C T 12: 76,062,419 (GRCm39) A4247V probably damaging Het
Tacc2 T A 7: 130,330,898 (GRCm39) probably null Het
Tgm4 A T 9: 122,885,531 (GRCm39) I358F probably damaging Het
Thnsl2 A G 6: 71,111,203 (GRCm39) S222P probably damaging Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Ube2l6 T C 2: 84,639,506 (GRCm39) probably benign Het
Usp10 T A 8: 120,675,480 (GRCm39) Y63N possibly damaging Het
Vit A G 17: 78,912,915 (GRCm39) I283V possibly damaging Het
Vmn1r214 G A 13: 23,219,270 (GRCm39) V255I possibly damaging Het
Xpo1 A G 11: 23,246,003 (GRCm39) R1038G probably damaging Het
Ybx1 T A 4: 119,139,509 (GRCm39) N50I probably damaging Het
Zhx1 T C 15: 57,917,683 (GRCm39) K188E 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
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
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
Posted On 2014-05-07