Incidental Mutation 'IGL02247:Mtif2'
ID 286248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtif2
Ensembl Gene ENSMUSG00000020459
Gene Name mitochondrial translational initiation factor 2
Synonyms 2310038D14Rik, IF-2mt, 2410112O06Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL02247
Quality Score
Status
Chromosome 11
Chromosomal Location 29476408-29495279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29490642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 449 (S449P)
Ref Sequence ENSEMBL: ENSMUSP00000090926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020749] [ENSMUST00000093239] [ENSMUST00000144321]
AlphaFold Q91YJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000020749
AA Change: S449P

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: S449P

DomainStartEndE-ValueType
Pfam:SRPRB 178 310 2.1e-6 PFAM
Pfam:GTP_EFTU 179 344 8.9e-34 PFAM
Pfam:MMR_HSR1 182 289 6.9e-10 PFAM
coiled coil region 449 484 N/A INTRINSIC
Pfam:IF-2 504 607 6.5e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000093239
AA Change: S449P

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: S449P

DomainStartEndE-ValueType
Pfam:SRPRB 178 310 2.1e-6 PFAM
Pfam:GTP_EFTU 179 344 8.9e-34 PFAM
Pfam:MMR_HSR1 182 289 6.9e-10 PFAM
coiled coil region 449 484 N/A INTRINSIC
Pfam:IF-2 504 607 6.5e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129893
Predicted Effect probably benign
Transcript: ENSMUST00000132783
SMART Domains Protein: ENSMUSP00000121327
Gene: ENSMUSG00000020459

DomainStartEndE-ValueType
PDB:3IZY|P 47 247 8e-92 PDB
SCOP:d1g7sa1 163 244 2e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144321
SMART Domains Protein: ENSMUSP00000114299
Gene: ENSMUSG00000020459

DomainStartEndE-ValueType
Pfam:Arf 175 341 1.1e-5 PFAM
Pfam:SRPRB 178 310 1.5e-6 PFAM
Pfam:GTP_EFTU 178 344 3.8e-39 PFAM
Pfam:MMR_HSR1 182 289 1.1e-8 PFAM
Pfam:Miro 182 291 1.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,974,905 (GRCm39) R177G probably damaging Het
Ap3b1 T C 13: 94,531,303 (GRCm39) probably null Het
Ascc3 A C 10: 50,526,686 (GRCm39) K595T probably damaging Het
Cnpy4 A G 5: 138,191,125 (GRCm39) T234A probably benign Het
Col13a1 T C 10: 61,797,124 (GRCm39) Y101C probably damaging Het
Crybg3 A G 16: 59,323,513 (GRCm39) I2809T probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dgkz T C 2: 91,767,805 (GRCm39) S824G probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Efhb C T 17: 53,708,652 (GRCm39) V673I probably benign Het
Egr1 T C 18: 34,995,916 (GRCm39) Y233H possibly damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Galt A G 4: 41,755,623 (GRCm39) probably benign Het
Gm4795 T C 10: 44,883,211 (GRCm39) noncoding transcript Het
Gm6563 G A 19: 23,653,392 (GRCm39) E61K possibly damaging Het
Igkv1-133 G A 6: 67,702,590 (GRCm39) V103M probably damaging Het
Iqcb1 T A 16: 36,660,258 (GRCm39) H140Q probably benign Het
Itpk1 G T 12: 102,589,668 (GRCm39) P74Q probably damaging Het
Itpr3 T A 17: 27,317,153 (GRCm39) W803R probably damaging Het
Lgr4 A T 2: 109,832,846 (GRCm39) D312V probably benign Het
Lgr4 C T 2: 109,838,420 (GRCm39) probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mllt6 C A 11: 97,561,158 (GRCm39) A282E probably benign Het
Nrg3 T C 14: 38,093,269 (GRCm39) I533M probably damaging Het
Nynrin C T 14: 56,109,167 (GRCm39) Q1425* probably null Het
Or12e13 A G 2: 87,663,873 (GRCm39) I163M probably damaging Het
Or1e1f A T 11: 73,855,688 (GRCm39) M85L probably benign Het
Or4n4b T A 14: 50,536,571 (GRCm39) N65I probably damaging Het
Or4p22 C T 2: 88,317,771 (GRCm39) H232Y probably benign Het
Or56a3 T A 7: 104,735,530 (GRCm39) Y202* probably null Het
Or5b3 T A 19: 13,388,831 (GRCm39) S299R probably benign Het
Or7e175 G A 9: 20,048,516 (GRCm39) V35I probably benign Het
Plcb4 C T 2: 135,836,245 (GRCm39) T20I possibly damaging Het
Ppp1r12b G T 1: 134,763,721 (GRCm39) T771K probably benign Het
Prss22 T C 17: 24,215,363 (GRCm39) T138A probably benign Het
Ros1 A T 10: 52,005,677 (GRCm39) S907T probably damaging Het
Rtel1 T A 2: 180,993,134 (GRCm39) Y521* probably null Het
Sacs T C 14: 61,429,984 (GRCm39) F678S probably damaging Het
Smtnl1 A T 2: 84,647,372 (GRCm39) probably benign Het
Sumf2 T C 5: 129,888,986 (GRCm39) V258A probably damaging Het
Tas1r2 A T 4: 139,396,827 (GRCm39) Y722F probably damaging Het
Tecpr1 A G 5: 144,143,372 (GRCm39) F668L possibly damaging Het
Timd4 T C 11: 46,706,558 (GRCm39) F120S probably damaging Het
Tnnt3 T C 7: 142,062,062 (GRCm39) probably benign Het
Trp53bp1 G A 2: 121,067,070 (GRCm39) S552F probably damaging Het
Txlnb G A 10: 17,706,090 (GRCm39) R333Q possibly damaging Het
Txlnb A G 10: 17,717,276 (GRCm39) probably benign Het
Uroc1 A G 6: 90,324,910 (GRCm39) E461G probably benign Het
Vps45 G A 3: 95,950,236 (GRCm39) T231I probably damaging Het
Zfp648 T A 1: 154,079,923 (GRCm39) S27R probably benign Het
Other mutations in Mtif2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Mtif2 APN 11 29,488,753 (GRCm39) missense probably damaging 1.00
IGL01020:Mtif2 APN 11 29,494,973 (GRCm39) missense possibly damaging 0.61
IGL01323:Mtif2 APN 11 29,491,447 (GRCm39) missense probably damaging 0.98
IGL01360:Mtif2 APN 11 29,480,110 (GRCm39) missense probably benign 0.00
IGL01744:Mtif2 APN 11 29,494,417 (GRCm39) unclassified probably benign
IGL01757:Mtif2 APN 11 29,491,337 (GRCm39) unclassified probably benign
IGL02642:Mtif2 APN 11 29,494,395 (GRCm39) missense probably benign
IGL03093:Mtif2 APN 11 29,480,702 (GRCm39) splice site probably benign
R0418:Mtif2 UTSW 11 29,483,401 (GRCm39) splice site probably benign
R0554:Mtif2 UTSW 11 29,483,398 (GRCm39) critical splice donor site probably null
R0577:Mtif2 UTSW 11 29,490,862 (GRCm39) critical splice donor site probably null
R1159:Mtif2 UTSW 11 29,490,729 (GRCm39) missense possibly damaging 0.95
R1168:Mtif2 UTSW 11 29,486,914 (GRCm39) missense probably benign 0.11
R1344:Mtif2 UTSW 11 29,495,002 (GRCm39) missense probably benign
R1418:Mtif2 UTSW 11 29,495,002 (GRCm39) missense probably benign
R1482:Mtif2 UTSW 11 29,486,847 (GRCm39) missense probably damaging 1.00
R1657:Mtif2 UTSW 11 29,490,721 (GRCm39) missense probably benign 0.00
R1850:Mtif2 UTSW 11 29,490,683 (GRCm39) missense probably benign 0.03
R3692:Mtif2 UTSW 11 29,490,718 (GRCm39) missense probably benign 0.03
R4471:Mtif2 UTSW 11 29,490,053 (GRCm39) splice site probably benign
R4730:Mtif2 UTSW 11 29,490,834 (GRCm39) missense probably benign 0.00
R5248:Mtif2 UTSW 11 29,486,889 (GRCm39) missense probably damaging 1.00
R5343:Mtif2 UTSW 11 29,486,964 (GRCm39) missense probably damaging 1.00
R5989:Mtif2 UTSW 11 29,480,098 (GRCm39) missense probably damaging 0.96
R6511:Mtif2 UTSW 11 29,486,949 (GRCm39) missense possibly damaging 0.81
R7209:Mtif2 UTSW 11 29,479,996 (GRCm39) missense probably benign 0.00
R7318:Mtif2 UTSW 11 29,490,115 (GRCm39) missense probably benign 0.25
R9120:Mtif2 UTSW 11 29,483,951 (GRCm39) missense probably benign 0.00
R9224:Mtif2 UTSW 11 29,494,364 (GRCm39) missense probably benign 0.09
R9256:Mtif2 UTSW 11 29,490,777 (GRCm39) missense probably benign 0.00
R9266:Mtif2 UTSW 11 29,480,065 (GRCm39) missense probably benign 0.00
R9745:Mtif2 UTSW 11 29,476,587 (GRCm39) start gained probably benign
X0064:Mtif2 UTSW 11 29,488,760 (GRCm39) missense probably benign 0.07
Posted On 2015-04-16