Incidental Mutation 'IGL01757:Mtif2'
ID 153226
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 # IGL01757
Quality Score
Status
Chromosome 11
Chromosomal Location 29476408-29495279 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 29491337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020749] [ENSMUST00000093239] [ENSMUST00000102844] [ENSMUST00000102845] [ENSMUST00000144321]
AlphaFold Q91YJ5
Predicted Effect probably benign
Transcript: ENSMUST00000020749
SMART Domains Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459

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 probably benign
Transcript: ENSMUST00000093239
SMART Domains Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459

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 probably benign
Transcript: ENSMUST00000102844
SMART Domains Protein: ENSMUSP00000099908
Gene: ENSMUSG00000020460

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_S27 101 147 9.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102845
SMART Domains Protein: ENSMUSP00000099909
Gene: ENSMUSG00000020460

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_S27 102 147 1.4e-29 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 noncoding transcript
Transcript: ENSMUST00000147782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150739
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,639,705 (GRCm39) probably benign Het
Adamts9 T C 6: 92,773,140 (GRCm39) Y1789C probably damaging Het
Cdcp1 A T 9: 123,009,066 (GRCm39) Y537* probably null Het
Chic2 T C 5: 75,167,428 (GRCm39) probably benign Het
Cpa5 G A 6: 30,625,926 (GRCm39) probably benign Het
Csgalnact2 T C 6: 118,106,307 (GRCm39) R4G probably damaging Het
Dnah10 T A 5: 124,845,991 (GRCm39) V1510D probably benign Het
Dnm2 T A 9: 21,376,915 (GRCm39) F91L probably damaging Het
Eif2b1 T C 5: 124,711,203 (GRCm39) K189E probably benign Het
Fgf17 A T 14: 70,874,420 (GRCm39) L123Q probably damaging Het
Ifna15 T C 4: 88,476,322 (GRCm39) K54R possibly damaging Het
Isg15 A G 4: 156,284,301 (GRCm39) C76R probably damaging Het
Ldb2 A T 5: 44,699,209 (GRCm39) probably benign Het
Lig4 A G 8: 10,021,185 (GRCm39) I865T probably benign Het
Lrrc46 T C 11: 96,926,701 (GRCm39) Y154C probably damaging Het
Lrrc8a G A 2: 30,145,537 (GRCm39) R117H possibly damaging Het
Mrpl2 A G 17: 46,959,183 (GRCm39) I96V probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Ptpn23 G A 9: 110,220,704 (GRCm39) R269W probably damaging Het
Senp2 T C 16: 21,828,414 (GRCm39) V8A probably benign Het
Slf1 T C 13: 77,232,559 (GRCm39) D515G probably benign Het
Spc25 G A 2: 69,032,952 (GRCm39) Q58* probably null Het
Sult2a5 T C 7: 13,399,079 (GRCm39) S229P probably damaging Het
Tfap2d A G 1: 19,174,804 (GRCm39) T86A probably benign Het
Trp53bp1 A G 2: 121,041,785 (GRCm39) V1257A probably damaging Het
Wdr6 A G 9: 108,453,427 (GRCm39) V152A possibly damaging Het
Zdhhc7 A G 8: 120,814,662 (GRCm39) V49A probably benign Het
Zfp648 T C 1: 154,080,671 (GRCm39) S277P probably damaging 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
IGL02247:Mtif2 APN 11 29,490,642 (GRCm39) missense possibly damaging 0.65
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 2014-02-04