Incidental Mutation 'IGL02318:Gfm2'
ID288120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gfm2
Ensembl Gene ENSMUSG00000021666
Gene NameG elongation factor, mitochondrial 2
SynonymsEFG2, MST027, A930009M04Rik, 6530419G12Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.596) question?
Stock #IGL02318
Quality Score
Status
Chromosome13
Chromosomal Location97137937-97181195 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 97162975 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 401 (N401K)
Ref Sequence ENSEMBL: ENSMUSP00000124253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913]
Predicted Effect probably damaging
Transcript: ENSMUST00000022170
AA Change: N399K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: N399K

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 damaging
Transcript: ENSMUST00000042084
AA Change: N374K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: N374K

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 damaging
Transcript: ENSMUST00000161639
AA Change: N401K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: N401K

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 damaging
Transcript: ENSMUST00000161825
AA Change: N401K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: N401K

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 noncoding transcript
Transcript: ENSMUST00000161843
Predicted Effect probably damaging
Transcript: ENSMUST00000161913
AA Change: N401K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: N401K

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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Abhd18 G A 3: 40,930,227 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dvl3 A G 16: 20,523,743 R149G possibly damaging Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Echs1 A T 7: 140,111,710 L167Q probably damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Grk3 A G 5: 112,937,803 Y314H probably damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Luc7l3 C T 11: 94,292,993 R440Q probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Prss27 G T 17: 24,045,597 V245L probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A probably benign Het
Other mutations in Gfm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gfm2 APN 13 97155442 missense probably benign 0.38
IGL00781:Gfm2 APN 13 97149339 missense probably damaging 1.00
IGL00789:Gfm2 APN 13 97173058 unclassified probably benign
IGL00978:Gfm2 APN 13 97162977 missense probably benign 0.20
IGL01637:Gfm2 APN 13 97150409 missense probably damaging 1.00
R0825:Gfm2 UTSW 13 97143104 splice site probably benign
R1173:Gfm2 UTSW 13 97165200 splice site probably null
R1847:Gfm2 UTSW 13 97162934 missense probably benign 0.04
R1932:Gfm2 UTSW 13 97141967 missense probably damaging 0.96
R2104:Gfm2 UTSW 13 97171520 missense probably damaging 0.99
R2108:Gfm2 UTSW 13 97155442 missense probably benign 0.38
R2877:Gfm2 UTSW 13 97153249 missense possibly damaging 0.80
R2878:Gfm2 UTSW 13 97153249 missense possibly damaging 0.80
R2898:Gfm2 UTSW 13 97172961 missense possibly damaging 0.85
R3931:Gfm2 UTSW 13 97175024 missense probably damaging 0.98
R4011:Gfm2 UTSW 13 97143100 splice site probably benign
R4831:Gfm2 UTSW 13 97165038 missense probably damaging 1.00
R4921:Gfm2 UTSW 13 97175676 missense probably damaging 0.99
R5182:Gfm2 UTSW 13 97162893 missense probably damaging 1.00
R5309:Gfm2 UTSW 13 97163151 missense probably damaging 1.00
R5310:Gfm2 UTSW 13 97163151 missense probably damaging 1.00
R5311:Gfm2 UTSW 13 97163151 missense probably damaging 1.00
R5339:Gfm2 UTSW 13 97175040 missense probably benign
R5594:Gfm2 UTSW 13 97165038 missense probably damaging 1.00
R5599:Gfm2 UTSW 13 97163151 missense probably damaging 1.00
R6014:Gfm2 UTSW 13 97151661 intron probably null
R6041:Gfm2 UTSW 13 97172623 missense probably benign 0.11
R6108:Gfm2 UTSW 13 97149422 missense possibly damaging 0.79
R6345:Gfm2 UTSW 13 97162953 missense probably damaging 0.96
R6596:Gfm2 UTSW 13 97165149 missense probably damaging 1.00
R6937:Gfm2 UTSW 13 97163064 splice site probably null
R6958:Gfm2 UTSW 13 97146236 missense probably damaging 1.00
Posted On2015-04-16