Incidental Mutation 'R5046:Mtfmt'
ID 394381
Institutional Source Beutler Lab
Gene Symbol Mtfmt
Ensembl Gene ENSMUSG00000059183
Gene Name mitochondrial methionyl-tRNA formyltransferase
Synonyms 2310020P08Rik
MMRRC Submission 042636-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5046 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65343064-65360336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65346897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 164 (V164F)
Ref Sequence ENSEMBL: ENSMUSP00000074347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074792]
AlphaFold Q9D799
Predicted Effect probably damaging
Transcript: ENSMUST00000074792
AA Change: V164F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183
AA Change: V164F

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
Meta Mutation Damage Score 0.1654 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C A 7: 119,302,597 (GRCm39) H241N probably damaging Het
Arhgap32 G A 9: 32,168,095 (GRCm39) A693T probably damaging Het
B4galnt3 G T 6: 120,191,759 (GRCm39) A658D probably damaging Het
Car12 G A 9: 66,653,895 (GRCm39) E84K probably benign Het
Crocc2 T A 1: 93,133,624 (GRCm39) S969T probably damaging Het
Crym A G 7: 119,794,667 (GRCm39) V184A possibly damaging Het
Cryzl2 T C 1: 157,292,583 (GRCm39) C122R probably damaging Het
Defb30 T C 14: 63,273,463 (GRCm39) E49G probably benign Het
Dnah3 A G 7: 119,550,803 (GRCm39) L3161P probably damaging Het
Dnajc5g A G 5: 31,267,036 (GRCm39) N104S probably benign Het
Fcgr1 T G 3: 96,194,302 (GRCm39) K195T probably damaging Het
Gal C T 19: 3,461,167 (GRCm39) R89H probably damaging Het
Gcfc2 C T 6: 81,925,316 (GRCm39) A577V probably benign Het
Gm5116 A C 7: 32,195,379 (GRCm39) noncoding transcript Het
Golga3 A T 5: 110,340,806 (GRCm39) Q540L probably damaging Het
Hectd1 T C 12: 51,797,171 (GRCm39) E2184G probably damaging Het
Hspa12a T C 19: 58,787,977 (GRCm39) D615G probably damaging Het
Igkv14-130 A T 6: 67,768,465 (GRCm39) Y107F probably damaging Het
Ldlr T A 9: 21,657,203 (GRCm39) probably null Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37a A T 11: 103,389,066 (GRCm39) S2120T unknown Het
Nampt T C 12: 32,883,037 (GRCm39) V74A probably damaging Het
Ndufc2 G T 7: 97,056,871 (GRCm39) R120L probably damaging Het
Neo1 A T 9: 58,801,194 (GRCm39) V1156D possibly damaging Het
Nlrp1b G A 11: 71,050,898 (GRCm39) P1065S possibly damaging Het
Nop9 A G 14: 55,983,397 (GRCm39) H56R possibly damaging Het
Or4k41 A T 2: 111,279,934 (GRCm39) T150S probably benign Het
Or6c75 A T 10: 129,337,178 (GRCm39) M142L possibly damaging Het
Pign A T 1: 105,449,798 (GRCm39) N909K possibly damaging Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Racgap1 G A 15: 99,526,643 (GRCm39) R307W probably damaging Het
Rap1gds1 C A 3: 138,661,181 (GRCm39) E399* probably null Het
Rwdd4a G A 8: 47,995,837 (GRCm39) probably null Het
Sanbr A C 11: 23,570,354 (GRCm39) M182R probably benign Het
Scp2 T C 4: 107,928,488 (GRCm39) T401A probably benign Het
Sdha A G 13: 74,475,452 (GRCm39) F526S probably damaging Het
Shroom1 T A 11: 53,354,872 (GRCm39) L264Q probably benign Het
Sorl1 T C 9: 41,907,590 (GRCm39) T1466A probably benign Het
Trpm2 C T 10: 77,801,852 (GRCm39) C71Y probably damaging Het
Ugt2b34 G A 5: 87,052,246 (GRCm39) S250L probably benign Het
Vmn2r88 A G 14: 51,650,638 (GRCm39) D117G probably benign Het
Wdr73 A T 7: 80,542,173 (GRCm39) probably benign Het
Other mutations in Mtfmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Mtfmt APN 9 65,343,100 (GRCm39) missense probably damaging 0.99
IGL01980:Mtfmt APN 9 65,344,356 (GRCm39) missense probably benign 0.03
IGL02200:Mtfmt APN 9 65,356,063 (GRCm39) splice site probably benign
IGL02375:Mtfmt APN 9 65,346,849 (GRCm39) missense probably damaging 1.00
IGL03202:Mtfmt APN 9 65,356,008 (GRCm39) missense probably damaging 1.00
R2697:Mtfmt UTSW 9 65,359,303 (GRCm39) missense probably benign 0.15
R4898:Mtfmt UTSW 9 65,359,386 (GRCm39) missense probably benign 0.00
R4994:Mtfmt UTSW 9 65,351,133 (GRCm39) intron probably benign
R6110:Mtfmt UTSW 9 65,354,586 (GRCm39) critical splice donor site probably null
R6243:Mtfmt UTSW 9 65,351,182 (GRCm39) missense probably benign 0.30
R8475:Mtfmt UTSW 9 65,359,469 (GRCm39) missense probably benign 0.32
R8926:Mtfmt UTSW 9 65,344,414 (GRCm39) nonsense probably null
R9480:Mtfmt UTSW 9 65,351,181 (GRCm39) missense possibly damaging 0.46
R9506:Mtfmt UTSW 9 65,343,147 (GRCm39) missense probably benign
R9509:Mtfmt UTSW 9 65,343,147 (GRCm39) missense probably benign
R9510:Mtfmt UTSW 9 65,343,147 (GRCm39) missense probably benign
R9511:Mtfmt UTSW 9 65,343,147 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAGGTGATAGATGCTGTCAGG -3'
(R):5'- GTTAGAGACTAGGAACACTCACAG -3'

Sequencing Primer
(F):5'- GTTTGAAACAGGGCCTCAATCTG -3'
(R):5'- CTCACAGTGACTACGAAGGC -3'
Posted On 2016-06-15