Incidental Mutation 'IGL03136:Ftsj3'
ID 410509
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 # IGL03136
Quality Score
Status
Chromosome 11
Chromosomal Location 106139968-106146905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106144639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 117 (D117N)
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: D117N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: D117N

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: ENSMUST00000154635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143729
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dhcr7 A G 7: 143,401,103 (GRCm39) H422R probably damaging Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ift52 G T 2: 162,867,254 (GRCm39) E71* probably null Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or2aj4 A T 16: 19,385,103 (GRCm39) F177I probably damaging Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Or8d6 T C 9: 39,854,332 (GRCm39) Y259H probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Selenoi T C 5: 30,462,725 (GRCm39) Y197H probably damaging Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Treml1 T G 17: 48,671,879 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* probably null 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
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 2016-08-02