Incidental Mutation 'IGL03202:Mtfmt'
ID413010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtfmt
Ensembl Gene ENSMUSG00000059183
Gene Namemitochondrial methionyl-tRNA formyltransferase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03202
Quality Score
Status
Chromosome9
Chromosomal Location65435782-65453054 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 65448726 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 303 (P303Q)
Ref Sequence ENSEMBL: ENSMUSP00000074347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074792]
Predicted Effect probably damaging
Transcript: ENSMUST00000074792
AA Change: P303Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183
AA Change: P303Q

DomainStartEndE-ValueType
low complexity region 68 77 N/A INTRINSIC
Pfam:Formyl_trans_N 105 215 1.5e-27 PFAM
Pfam:Formyl_trans_C 238 345 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214308
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Actr10 T G 12: 70,940,831 C37W probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Bend5 A G 4: 111,433,244 N146D possibly damaging Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Cxcr4 T G 1: 128,588,904 K340T probably damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lce1l A T 3: 92,850,324 C76S unknown Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Pygl G T 12: 70,199,646 Q376K probably benign Het
Rrp12 T C 19: 41,868,766 probably null Het
Sephs1 A T 2: 4,889,263 I92F possibly damaging Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign Het
Other mutations in Mtfmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Mtfmt APN 9 65435818 missense probably damaging 0.99
IGL01980:Mtfmt APN 9 65437074 missense probably benign 0.03
IGL02200:Mtfmt APN 9 65448781 splice site probably benign
IGL02375:Mtfmt APN 9 65439567 missense probably damaging 1.00
R2697:Mtfmt UTSW 9 65452021 missense probably benign 0.15
R4898:Mtfmt UTSW 9 65452104 missense probably benign 0.00
R4994:Mtfmt UTSW 9 65443851 intron probably benign
R5046:Mtfmt UTSW 9 65439615 missense probably damaging 0.99
R6110:Mtfmt UTSW 9 65447304 critical splice donor site probably null
R6243:Mtfmt UTSW 9 65443900 missense probably benign 0.30
Posted On2016-08-02