Incidental Mutation 'IGL01637:Gfm2'
ID 93073
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
Is this an essential gene? Possibly essential (E-score: 0.560) question?
Stock # IGL01637
Quality Score
Status
Chromosome 13
Chromosomal Location 97137937-97181195 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97150409 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 172 (V172E)
Ref Sequence ENSEMBL: ENSMUSP00000124253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913] [ENSMUST00000161929]
AlphaFold Q8R2Q4
Predicted Effect probably damaging
Transcript: ENSMUST00000022170
AA Change: V170E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: V170E

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: V172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: V172E

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 damaging
Transcript: ENSMUST00000160139
AA Change: V172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: V172E

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 241 3.5e-56 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160981
AA Change: V20E
Predicted Effect probably damaging
Transcript: ENSMUST00000161639
AA Change: V172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: V172E

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: V172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: V172E

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: V172E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: V172E

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 probably benign
Transcript: ENSMUST00000161929
SMART Domains Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 94 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.] 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 I384N probably damaging Het
Adsl G T 15: 80,948,700 Q51H probably null Het
Apcdd1 A G 18: 62,937,286 E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 R155* probably null Het
Atp9b T C 18: 80,756,455 E823G probably benign Het
Bmp1 A G 14: 70,492,461 W468R probably damaging Het
C6 A G 15: 4,759,917 I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 T1392A probably benign Het
Dhx34 G T 7: 16,205,473 S665Y probably damaging Het
Dock1 A T 7: 135,137,813 probably null Het
Dpp7 T C 2: 25,354,613 N252S probably benign Het
Dyrk2 A G 10: 118,860,507 V282A probably damaging Het
Edrf1 T C 7: 133,650,525 L401P probably damaging Het
Epc1 A G 18: 6,439,724 V150A probably benign Het
Fam170a A T 18: 50,281,667 M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 T277S probably damaging Het
Galntl5 T C 5: 25,189,825 probably benign Het
Gbp2b A G 3: 142,598,312 N56S probably damaging Het
Gm10419 T C 5: 108,372,358 probably benign Het
Gm7293 A G 9: 51,623,606 noncoding transcript Het
Gstm3 T C 3: 107,967,633 E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 probably benign Het
Ighv7-1 T A 12: 113,896,503 I90F possibly damaging Het
Itga2b A G 11: 102,455,583 L1009P probably damaging Het
Kif1a A G 1: 93,039,853 V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 D232E possibly damaging Het
Klb G A 5: 65,375,679 probably null Het
Lrriq1 G A 10: 103,215,628 A421V probably benign Het
Mdga1 G A 17: 29,839,871 R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 probably benign Het
Myo18b T A 5: 112,840,629 R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 L594I probably damaging Het
Notch2 C T 3: 98,146,060 T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 T6S probably benign Het
Olfr131 G A 17: 38,082,103 L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr812 A G 10: 129,842,610 L144P probably benign Het
Olfr845 T C 9: 19,338,964 F168S probably damaging Het
Panx3 T C 9: 37,664,056 D170G probably damaging Het
Pclo A G 5: 14,540,034 S783G unknown Het
Pde3b T A 7: 114,526,901 L790* probably null Het
Pik3r2 T C 8: 70,772,348 probably benign Het
Rassf4 A G 6: 116,641,690 F211L probably damaging Het
Rbl2 C T 8: 91,106,438 P666S probably benign Het
Rnf123 A G 9: 108,058,238 F979L probably damaging Het
Rock2 T A 12: 16,965,171 D788E probably benign Het
Serpina3b A G 12: 104,132,957 T244A probably benign Het
Setd1b T C 5: 123,148,513 S541P unknown Het
Slc12a4 T C 8: 105,960,707 D60G possibly damaging Het
Stac2 T C 11: 98,041,354 E241G probably benign Het
Tas2r115 A G 6: 132,737,629 Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 F450I probably benign Het
Txnl1 A T 18: 63,674,191 I198N probably damaging Het
Ubr2 A T 17: 46,956,654 M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 E136G probably benign Het
Unc13b C T 4: 43,241,066 T3623I probably damaging Het
Usp13 T A 3: 32,919,064 S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 T203S probably damaging Het
Vwf T A 6: 125,645,736 I1718N probably damaging Het
Zfr A G 15: 12,159,646 H676R 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
IGL02318:Gfm2 APN 13 97162975 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 benign 0.02
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 splice site 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
R6996:Gfm2 UTSW 13 97149360 missense probably damaging 1.00
R7291:Gfm2 UTSW 13 97175024 missense probably benign 0.02
R7365:Gfm2 UTSW 13 97143021 missense probably benign 0.06
R7456:Gfm2 UTSW 13 97145703 nonsense probably null
R7585:Gfm2 UTSW 13 97179032 missense probably benign 0.03
R7597:Gfm2 UTSW 13 97172578 missense probably benign 0.00
R7766:Gfm2 UTSW 13 97150400 missense probably damaging 1.00
R8290:Gfm2 UTSW 13 97145663 missense probably benign 0.00
R8321:Gfm2 UTSW 13 97162992 missense possibly damaging 0.80
R8372:Gfm2 UTSW 13 97165044 missense possibly damaging 0.94
R8385:Gfm2 UTSW 13 97165011 missense probably benign 0.41
R8404:Gfm2 UTSW 13 97162977 missense probably benign 0.20
R9003:Gfm2 UTSW 13 97146381 unclassified probably benign
R9031:Gfm2 UTSW 13 97172693 critical splice donor site probably null
R9115:Gfm2 UTSW 13 97165199 critical splice donor site probably null
R9261:Gfm2 UTSW 13 97162861 nonsense probably null
R9360:Gfm2 UTSW 13 97153244 missense probably damaging 0.98
Z1177:Gfm2 UTSW 13 97162992 missense possibly damaging 0.93
Z1177:Gfm2 UTSW 13 97162993 critical splice donor site probably null
Posted On 2013-12-09