Incidental Mutation 'IGL01139:Ftsj1'
ID53359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ftsj1
Ensembl Gene ENSMUSG00000031171
Gene NameFtsJ RNA methyltransferase homolog 1 (E. coli)
SynonymsSfc12
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01139
Quality Score
Status
ChromosomeX
Chromosomal Location8238668-8252406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 8246592 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 171 (R171C)
Ref Sequence ENSEMBL: ENSMUSP00000033513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033513] [ENSMUST00000115594] [ENSMUST00000115595]
Predicted Effect probably damaging
Transcript: ENSMUST00000033513
AA Change: R171C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033513
Gene: ENSMUSG00000031171
AA Change: R171C

DomainStartEndE-ValueType
Pfam:FtsJ 21 199 2.4e-69 PFAM
low complexity region 262 275 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115594
AA Change: R171C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111257
Gene: ENSMUSG00000031171
AA Change: R171C

DomainStartEndE-ValueType
Pfam:FtsJ 21 199 2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115595
AA Change: R171C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111258
Gene: ENSMUSG00000031171
AA Change: R171C

DomainStartEndE-ValueType
Pfam:FtsJ 21 199 1.6e-67 PFAM
low complexity region 260 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147467
Predicted Effect probably benign
Transcript: ENSMUST00000149063
SMART Domains Protein: ENSMUSP00000121646
Gene: ENSMUSG00000031171

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Jaml C A 9: 45,101,019 T268N possibly damaging Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nrn1 A G 13: 36,730,216 C31R probably damaging Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr1006 T G 2: 85,674,497 Y218S probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Phtf1 A G 3: 104,005,602 D748G probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rassf6 T C 5: 90,608,966 *31W probably null Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Slc12a9 C T 5: 137,322,842 M470I probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Posted On2013-06-21