Incidental Mutation 'IGL02000:Ftsj3'
ID182993
Institutional Source Australian Phenomics Network (link to record)
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: 0.970) question?
Stock #IGL02000
Quality Score
Status
Chromosome11
Chromosomal Location106249142-106256079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 106250407 bp
ZygosityHeterozygous
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]
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: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Smco1 A T 16: 32,273,933 T141S possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
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
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
D4043:Ftsj3 UTSW 11 106254808 missense possibly damaging 0.91
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
PIT4581001:Ftsj3 UTSW 11 106249476 missense unknown
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 splice site probably null
R6771:Ftsj3 UTSW 11 106249540 missense probably damaging 1.00
R7121:Ftsj3 UTSW 11 106252297 missense probably damaging 1.00
R7303:Ftsj3 UTSW 11 106254680 missense probably damaging 1.00
R7349:Ftsj3 UTSW 11 106249746 missense probably damaging 1.00
R7559:Ftsj3 UTSW 11 106252987 missense possibly damaging 0.55
R7782:Ftsj3 UTSW 11 106252551 unclassified probably benign
R7783:Ftsj3 UTSW 11 106252551 unclassified probably benign
R7899:Ftsj3 UTSW 11 106252289 nonsense probably null
R8129:Ftsj3 UTSW 11 106253831 missense probably benign 0.03
Posted On2014-05-07