Incidental Mutation 'IGL01739:Mtg1'
ID105804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtg1
Ensembl Gene ENSMUSG00000039018
Gene Namemitochondrial ribosome-associated GTPase 1
SynonymsGtpbp7, LOC212508
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01739
Quality Score
Status
Chromosome7
Chromosomal Location140137564-140150786 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140150236 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 315 (Q315L)
Ref Sequence ENSEMBL: ENSMUSP00000036491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036977] [ENSMUST00000059241]
Predicted Effect probably benign
Transcript: ENSMUST00000036977
AA Change: Q315L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: Q315L

DomainStartEndE-ValueType
SCOP:d1egaa1 31 129 5e-6 SMART
Pfam:FeoB_N 143 219 3.9e-6 PFAM
Pfam:MMR_HSR1 144 283 2.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059241
SMART Domains Protein: ENSMUSP00000053901
Gene: ENSMUSG00000045733

DomainStartEndE-ValueType
Pfam:Shadoo 19 147 7.2e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155723
Predicted Effect probably benign
Transcript: ENSMUST00000156791
Predicted Effect probably benign
Transcript: ENSMUST00000211171
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 44,256,786 Y88* probably null Het
Aftph T C 11: 20,726,994 D205G probably damaging Het
Arhgap31 T C 16: 38,603,431 I758V probably benign Het
Atg9b A G 5: 24,386,515 probably null Het
Auts2 T C 5: 131,440,218 T754A probably benign Het
Birc6 A G 17: 74,659,221 M4048V probably benign Het
Cacna1s T C 1: 136,097,132 probably null Het
Cmpk1 C T 4: 114,964,924 A143T probably benign Het
Cstf2t C A 19: 31,083,136 P24Q probably damaging Het
Cwc22 A G 2: 77,927,296 S163P probably damaging Het
Faf1 T A 4: 109,677,081 probably benign Het
Focad T A 4: 88,370,806 I1279N unknown Het
Gp5 T C 16: 30,308,641 D405G possibly damaging Het
Guf1 C A 5: 69,561,158 N213K probably damaging Het
Hacd4 T C 4: 88,423,048 T145A probably damaging Het
Itga11 T C 9: 62,774,117 M1005T probably benign Het
Lrrc6 T A 15: 66,449,477 M272L probably benign Het
Mast4 T A 13: 102,774,273 T621S probably damaging Het
Mme T C 3: 63,340,113 M273T possibly damaging Het
Mos A G 4: 3,871,816 probably benign Het
Msln C T 17: 25,750,030 probably null Het
Myh1 A G 11: 67,214,528 E1048G probably damaging Het
Ndufa9 C T 6: 126,844,814 G66D probably damaging Het
Nr1i2 T C 16: 38,265,971 K44R probably benign Het
Nup155 T A 15: 8,135,788 M636K probably benign Het
Olfr101 A T 17: 37,299,782 F213L probably benign Het
Olfr1446 T A 19: 12,890,149 T143S probably benign Het
Pde4b A T 4: 102,601,635 Q496L probably damaging Het
Plekha6 T C 1: 133,260,131 V130A probably benign Het
Prag1 A G 8: 36,102,680 N139S probably benign Het
Rbpj-ps3 T C 6: 46,530,760 T19A probably benign Het
Scai A G 2: 39,094,791 probably benign Het
Slc12a7 A G 13: 73,799,614 T617A probably benign Het
Slc15a2 T C 16: 36,756,230 M481V probably benign Het
Snx5 A G 2: 144,270,405 L8P probably benign Het
Spg11 C T 2: 122,114,671 A123T probably damaging Het
Supt6 T A 11: 78,222,187 I977F probably damaging Het
Tjp3 T C 10: 81,278,656 D442G probably benign Het
Ttc21b A T 2: 66,237,856 N275K probably benign Het
Vmn2r50 A G 7: 10,037,437 F779S probably damaging Het
Xirp2 A T 2: 67,515,138 R2574S probably benign Het
Zbp1 T C 2: 173,212,245 E161G possibly damaging Het
Other mutations in Mtg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Mtg1 APN 7 140150206 missense probably damaging 1.00
IGL02458:Mtg1 APN 7 140150172 missense probably benign 0.01
IGL02682:Mtg1 APN 7 140144729 splice site probably benign
R0666:Mtg1 UTSW 7 140144344 missense probably benign
R0893:Mtg1 UTSW 7 140149752 missense probably damaging 1.00
R3707:Mtg1 UTSW 7 140149804 missense probably damaging 0.99
R4993:Mtg1 UTSW 7 140140283 missense probably null 1.00
R5810:Mtg1 UTSW 7 140145985 splice site probably null
R5886:Mtg1 UTSW 7 140149865 splice site probably null
R5960:Mtg1 UTSW 7 140146993 unclassified probably benign
R7069:Mtg1 UTSW 7 140143744 missense probably benign 0.00
R7110:Mtg1 UTSW 7 140146866 missense probably benign 0.02
Posted On2014-01-21