Incidental Mutation 'IGL00978:Gfm2'
ID 28900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfm2
Ensembl Gene ENSMUSG00000021666
Gene Name G elongation factor, mitochondrial 2
Synonyms EFG2, MST027, A930009M04Rik, 6530419G12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # IGL00978
Quality Score
Status
Chromosome 13
Chromosomal Location 97274445-97317703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97299485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 402 (I402T)
Ref Sequence ENSEMBL: ENSMUSP00000124253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913]
AlphaFold Q8R2Q4
Predicted Effect probably benign
Transcript: ENSMUST00000022170
AA Change: I400T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: I400T

DomainStartEndE-ValueType
Pfam:GTP_EFTU 66 349 9.9e-64 PFAM
Pfam:GTP_EFTU_D2 379 446 4.3e-8 PFAM
low complexity region 447 473 N/A INTRINSIC
Pfam:EFG_II 482 556 3.9e-29 PFAM
EFG_IV 558 677 2.94e-17 SMART
EFG_C 679 766 1.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042084
AA Change: I375T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: I375T

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 324 4.6e-64 PFAM
Pfam:GTP_EFTU_D2 354 421 4.2e-8 PFAM
low complexity region 422 448 N/A INTRINSIC
Pfam:EFG_II 457 531 3.7e-29 PFAM
EFG_IV 533 652 2.94e-17 SMART
EFG_C 654 741 1.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160989
Predicted Effect probably benign
Transcript: ENSMUST00000161639
AA Change: I402T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: I402T

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 351 1.2e-68 PFAM
low complexity region 449 475 N/A INTRINSIC
Pfam:EFG_II 484 558 4.5e-30 PFAM
EFG_IV 560 679 2.94e-17 SMART
EFG_C 681 768 1.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161825
AA Change: I402T

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: I402T

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 351 2.3e-64 PFAM
Pfam:GTP_EFTU_D2 381 448 1.1e-8 PFAM
low complexity region 449 475 N/A INTRINSIC
Pfam:EFG_II 484 558 7.1e-30 PFAM
EFG_IV 560 679 2.94e-17 SMART
EFG_C 681 738 3.46e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161913
AA Change: I402T

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: I402T

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 351 3.3e-64 PFAM
Pfam:GTP_EFTU_D2 381 448 3.2e-8 PFAM
low complexity region 449 475 N/A INTRINSIC
Pfam:EFG_II 484 532 2.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161843
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,241,773 (GRCm39) probably benign Het
Alpk2 A T 18: 65,424,605 (GRCm39) probably benign Het
Angptl8 T C 9: 21,748,349 (GRCm39) probably benign Het
AU040320 T A 4: 126,722,632 (GRCm39) D383E probably benign Het
Cep97 C T 16: 55,745,323 (GRCm39) probably benign Het
Clcn4 A T 7: 7,290,672 (GRCm39) L649H probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Erbb2 C T 11: 98,326,456 (GRCm39) P1027S probably damaging Het
Eya1 A G 1: 14,340,925 (GRCm39) probably benign Het
Gmeb2 A T 2: 180,900,836 (GRCm39) V187E probably benign Het
Hectd1 T C 12: 51,838,173 (GRCm39) H662R possibly damaging Het
Ifne T C 4: 88,798,268 (GRCm39) Q50R probably benign Het
Kidins220 A G 12: 25,107,473 (GRCm39) D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 (GRCm39) D146V probably damaging Het
Krt36 T C 11: 99,993,774 (GRCm39) I355V probably damaging Het
Lrrcc1 T A 3: 14,601,188 (GRCm39) S73R possibly damaging Het
Ltbp3 A T 19: 5,804,047 (GRCm39) H853L probably benign Het
Map3k5 G A 10: 20,017,313 (GRCm39) R1369Q probably damaging Het
Mcm8 A G 2: 132,663,326 (GRCm39) N148S probably benign Het
Mylk3 A T 8: 86,082,155 (GRCm39) L211* probably null Het
Nras T C 3: 102,966,232 (GRCm39) probably benign Het
Or2n1c A T 17: 38,519,873 (GRCm39) I246F probably damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Os9 A T 10: 126,956,378 (GRCm39) Y66N probably damaging Het
Pitpnm1 A G 19: 4,151,228 (GRCm39) D15G possibly damaging Het
Reg3a A T 6: 78,359,284 (GRCm39) R95* probably null Het
Rnf17 C T 14: 56,749,728 (GRCm39) P1425S probably damaging Het
Smad2 T C 18: 76,432,846 (GRCm39) probably benign Het
Ttll5 C T 12: 85,980,256 (GRCm39) Q76* probably null Het
Uri1 A T 7: 37,696,156 (GRCm39) probably benign Het
Vmn2r102 G T 17: 19,899,185 (GRCm39) probably null Het
Vmn2r70 T G 7: 85,213,007 (GRCm39) M467L probably benign Het
Zfp318 T A 17: 46,724,652 (GRCm39) D2218E possibly damaging Het
Zfp692 T C 11: 58,204,855 (GRCm39) I405T possibly damaging Het
Zfp692 A G 11: 58,200,824 (GRCm39) H235R possibly damaging Het
Other mutations in Gfm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gfm2 APN 13 97,291,950 (GRCm39) missense probably benign 0.38
IGL00781:Gfm2 APN 13 97,285,847 (GRCm39) missense probably damaging 1.00
IGL00789:Gfm2 APN 13 97,309,566 (GRCm39) unclassified probably benign
IGL01637:Gfm2 APN 13 97,286,917 (GRCm39) missense probably damaging 1.00
IGL02318:Gfm2 APN 13 97,299,483 (GRCm39) missense probably damaging 1.00
R0825:Gfm2 UTSW 13 97,279,612 (GRCm39) splice site probably benign
R1173:Gfm2 UTSW 13 97,301,708 (GRCm39) splice site probably null
R1847:Gfm2 UTSW 13 97,299,442 (GRCm39) missense probably benign 0.04
R1932:Gfm2 UTSW 13 97,278,475 (GRCm39) missense probably damaging 0.96
R2104:Gfm2 UTSW 13 97,308,028 (GRCm39) missense probably damaging 0.99
R2108:Gfm2 UTSW 13 97,291,950 (GRCm39) missense probably benign 0.38
R2877:Gfm2 UTSW 13 97,289,757 (GRCm39) missense possibly damaging 0.80
R2878:Gfm2 UTSW 13 97,289,757 (GRCm39) missense possibly damaging 0.80
R2898:Gfm2 UTSW 13 97,309,469 (GRCm39) missense possibly damaging 0.85
R3931:Gfm2 UTSW 13 97,311,532 (GRCm39) missense probably benign 0.02
R4011:Gfm2 UTSW 13 97,279,608 (GRCm39) splice site probably benign
R4831:Gfm2 UTSW 13 97,301,546 (GRCm39) missense probably damaging 1.00
R4921:Gfm2 UTSW 13 97,312,184 (GRCm39) missense probably damaging 0.99
R5182:Gfm2 UTSW 13 97,299,401 (GRCm39) missense probably damaging 1.00
R5309:Gfm2 UTSW 13 97,299,659 (GRCm39) missense probably damaging 1.00
R5310:Gfm2 UTSW 13 97,299,659 (GRCm39) missense probably damaging 1.00
R5311:Gfm2 UTSW 13 97,299,659 (GRCm39) missense probably damaging 1.00
R5339:Gfm2 UTSW 13 97,311,548 (GRCm39) missense probably benign
R5594:Gfm2 UTSW 13 97,301,546 (GRCm39) missense probably damaging 1.00
R5599:Gfm2 UTSW 13 97,299,659 (GRCm39) missense probably damaging 1.00
R6014:Gfm2 UTSW 13 97,288,169 (GRCm39) splice site probably null
R6041:Gfm2 UTSW 13 97,309,131 (GRCm39) missense probably benign 0.11
R6108:Gfm2 UTSW 13 97,285,930 (GRCm39) missense possibly damaging 0.79
R6345:Gfm2 UTSW 13 97,299,461 (GRCm39) missense probably damaging 0.96
R6596:Gfm2 UTSW 13 97,301,657 (GRCm39) missense probably damaging 1.00
R6937:Gfm2 UTSW 13 97,299,572 (GRCm39) splice site probably null
R6958:Gfm2 UTSW 13 97,282,744 (GRCm39) missense probably damaging 1.00
R6996:Gfm2 UTSW 13 97,285,868 (GRCm39) missense probably damaging 1.00
R7291:Gfm2 UTSW 13 97,311,532 (GRCm39) missense probably benign 0.02
R7365:Gfm2 UTSW 13 97,279,529 (GRCm39) missense probably benign 0.06
R7456:Gfm2 UTSW 13 97,282,211 (GRCm39) nonsense probably null
R7585:Gfm2 UTSW 13 97,315,540 (GRCm39) missense probably benign 0.03
R7597:Gfm2 UTSW 13 97,309,086 (GRCm39) missense probably benign 0.00
R7766:Gfm2 UTSW 13 97,286,908 (GRCm39) missense probably damaging 1.00
R8290:Gfm2 UTSW 13 97,282,171 (GRCm39) missense probably benign 0.00
R8321:Gfm2 UTSW 13 97,299,500 (GRCm39) missense possibly damaging 0.80
R8372:Gfm2 UTSW 13 97,301,552 (GRCm39) missense possibly damaging 0.94
R8385:Gfm2 UTSW 13 97,301,519 (GRCm39) missense probably benign 0.41
R8404:Gfm2 UTSW 13 97,299,485 (GRCm39) missense probably benign 0.20
R9003:Gfm2 UTSW 13 97,282,889 (GRCm39) unclassified probably benign
R9031:Gfm2 UTSW 13 97,309,201 (GRCm39) critical splice donor site probably null
R9115:Gfm2 UTSW 13 97,301,707 (GRCm39) critical splice donor site probably null
R9261:Gfm2 UTSW 13 97,299,369 (GRCm39) nonsense probably null
R9360:Gfm2 UTSW 13 97,289,752 (GRCm39) missense probably damaging 0.98
R9463:Gfm2 UTSW 13 97,286,910 (GRCm39) missense probably damaging 1.00
R9575:Gfm2 UTSW 13 97,285,906 (GRCm39) missense probably damaging 1.00
Z1177:Gfm2 UTSW 13 97,299,501 (GRCm39) critical splice donor site probably null
Z1177:Gfm2 UTSW 13 97,299,500 (GRCm39) missense possibly damaging 0.93
Posted On 2013-04-17