Incidental Mutation 'R5997:Ftsj3'
ID480639
Institutional Source Beutler Lab
Gene Symbol Ftsj3
Ensembl Gene ENSMUSG00000020706
Gene NameFtsJ RNA methyltransferase homolog 3 (E. coli)
SynonymsD11Ertd400e, C79843, Epcs3
MMRRC Submission 044176-MU
Accession Numbers

Genbank: NM_025310; MGI: 1860295

Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #R5997 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location106249142-106256079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106252251 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 412 (D412E)
Ref Sequence ENSEMBL: ENSMUSP00000021048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048] [ENSMUST00000021049] [ENSMUST00000133131]
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: D412E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
AA Change: D412E

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.5%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,876,373 D38V probably benign Het
Abcb9 A T 5: 124,089,815 V121E possibly damaging Het
Adamts20 T A 15: 94,379,747 Y278F probably damaging Het
Adcy7 A T 8: 88,326,392 D972V probably benign Het
Adgrf3 C A 5: 30,198,362 probably null Het
Ahdc1 G T 4: 133,063,895 G816C probably benign Het
Aifm3 A G 16: 17,502,130 K283E probably benign Het
Akap6 T C 12: 52,937,233 probably null Het
Ank1 T C 8: 23,099,662 L593P probably damaging Het
Apol11b T A 15: 77,635,497 T128S probably benign Het
C1qtnf7 C A 5: 43,616,085 T235K probably damaging Het
Camk2a A T 18: 60,977,957 I73F probably damaging Het
Cd109 G T 9: 78,705,062 V1244F possibly damaging Het
Cep164 A G 9: 45,769,463 L1240S possibly damaging Het
Cnga1 T A 5: 72,604,575 D532V probably damaging Het
Cyp4a14 A T 4: 115,496,100 L5* probably null Het
Cyp4a30b A T 4: 115,459,391 K405* probably null Het
Dchs1 T C 7: 105,754,095 D3080G probably benign Het
Ddx1 T C 12: 13,237,799 D168G probably damaging Het
Dhx57 T G 17: 80,245,806 K1231Q probably damaging Het
Dnah14 A G 1: 181,770,105 N3640D probably benign Het
Dock4 T A 12: 40,755,834 L935Q probably damaging Het
Dus2 A T 8: 106,046,066 R269S probably benign Het
E230025N22Rik G A 18: 36,689,108 R201C possibly damaging Het
Erbb3 G A 10: 128,583,185 T269M probably damaging Het
Fam71f2 T A 6: 29,290,424 L267* probably null Het
Fbxo43 T C 15: 36,162,093 R323G probably damaging Het
Fktn A G 4: 53,735,061 H233R probably benign Het
Fzd7 A T 1: 59,484,544 M529L probably benign Het
Fzr1 T A 10: 81,370,826 probably null Het
Ganc T G 2: 120,430,605 V257G possibly damaging Het
Gm4131 T C 14: 62,464,758 K254E probably damaging Het
Gm6583 C T 5: 112,355,008 V277M possibly damaging Het
Gm7347 G T 5: 26,057,249 Y91* probably null Het
Gm9857 G A 3: 108,940,165 probably benign Het
Grpel1 T C 5: 36,465,248 S19P probably benign Het
Gtf3c4 T C 2: 28,833,711 K670E possibly damaging Het
Hist1h2bf G A 13: 23,574,103 probably benign Het
Hmcn1 G T 1: 150,704,173 Q1938K possibly damaging Het
Hnrnpk T C 13: 58,399,157 D71G probably damaging Het
Hspa4l G A 3: 40,767,979 R311H probably damaging Het
Igkv3-5 T A 6: 70,663,704 F56L probably benign Het
Igkv6-20 T A 6: 70,335,914 T92S possibly damaging Het
Krt8 C T 15: 102,000,594 V200I possibly damaging Het
Lamb2 A T 9: 108,480,388 T66S possibly damaging Het
Lamp3 A G 16: 19,701,028 L135S probably benign Het
Lrguk A G 6: 34,129,143 Y701C probably damaging Het
Mcc G T 18: 44,449,321 L588M probably damaging Het
Mcidas T A 13: 112,998,586 L234Q probably damaging Het
Mtmr14 T A 6: 113,280,614 L208Q probably damaging Het
Myof A G 19: 37,905,299 F1139L possibly damaging Het
Nlrp14 C A 7: 107,182,496 T300K probably benign Het
Olfr1474 A G 19: 13,471,506 I179V probably benign Het
Olfr165 T A 16: 19,407,944 H24L probably benign Het
Olfr716 A T 7: 107,147,328 E4V possibly damaging Het
Olfr890 A T 9: 38,143,801 Y217F probably damaging Het
Orc2 A G 1: 58,472,388 I354T probably damaging Het
Pard3b G T 1: 62,076,409 S140I probably damaging Het
Pcgf5 A G 19: 36,434,603 D49G probably benign Het
Pcsk6 T C 7: 65,959,293 F388S probably damaging Het
Prokr2 A C 2: 132,381,442 I60S probably damaging Het
Rab33b A G 3: 51,484,479 T50A possibly damaging Het
Rbms3 T C 9: 116,719,389 D61G probably damaging Het
Rhcg T A 7: 79,600,514 K274* probably null Het
Rnf112 C T 11: 61,451,022 V319M possibly damaging Het
Rnf44 A T 13: 54,682,800 S265T possibly damaging Het
Sf3a3 A G 4: 124,722,058 D168G probably damaging Het
Sik2 A G 9: 50,895,342 probably null Het
Slco1a5 T A 6: 142,253,113 L275F probably benign Het
Smtnl1 T C 2: 84,815,378 H383R probably damaging Het
Spns3 T G 11: 72,539,078 T175P probably damaging Het
Togaram1 A G 12: 64,995,538 T1174A probably benign Het
Tradd C T 8: 105,260,645 E10K possibly damaging Het
Ttc7b A T 12: 100,373,560 Y579N probably damaging Het
Uncx G A 5: 139,547,589 G470R probably damaging Het
Vav3 T A 3: 109,501,461 M177K probably damaging Het
Wfs1 A T 5: 36,967,750 I599N probably damaging Het
Zfp454 G A 11: 50,873,622 H217Y 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
IGL02000:Ftsj3 APN 11 106250407 missense probably benign 0.03
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
R6047:Ftsj3 UTSW 11 106252318 missense probably damaging 0.96
R6180:Ftsj3 UTSW 11 106253340 synonymous 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
R7982:Ftsj3 UTSW 11 106252289 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTGGAGTCTCGGGTACTC -3'
(R):5'- TCTGGCAGAGATGAAAGCCC -3'

Sequencing Primer
(F):5'- GGAGTCTCGGGTACTCCTTTTC -3'
(R):5'- CCAAGAAGTGGCAGAACTCAAG -3'
Posted On2017-06-26