Incidental Mutation 'R6108:Gfm2'
ID 485622
Institutional Source Beutler Lab
Gene Symbol Gfm2
Ensembl Gene ENSMUSG00000021666
Gene Name G elongation factor, mitochondrial 2
Synonyms EFG2, MST027, A930009M04Rik, 6530419G12Rik
MMRRC Submission 044258-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R6108 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 97274445-97317703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97285930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 140 (I140V)
Ref Sequence ENSEMBL: ENSMUSP00000124253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913] [ENSMUST00000161929]
AlphaFold Q8R2Q4
Predicted Effect possibly damaging
Transcript: ENSMUST00000022170
AA Change: I138V

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: I138V

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 possibly damaging
Transcript: ENSMUST00000042084
AA Change: I140V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: I140V

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: ENSMUST00000160139
AA Change: I140V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: I140V

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 241 3.5e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160981
Predicted Effect possibly damaging
Transcript: ENSMUST00000161639
AA Change: I140V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: I140V

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 possibly damaging
Transcript: ENSMUST00000161825
AA Change: I140V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: I140V

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 possibly damaging
Transcript: ENSMUST00000161913
AA Change: I140V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: I140V

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

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 94 1.2e-9 PFAM
Meta Mutation Damage Score 0.2375 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,539,814 (GRCm39) F5702L probably damaging Het
Aptx G A 4: 40,694,986 (GRCm39) Q117* probably null Het
Axin1 T A 17: 26,362,214 (GRCm39) M186K probably damaging Het
Btbd2 A T 10: 80,481,365 (GRCm39) L249Q probably damaging Het
Caprin1 C T 2: 103,606,362 (GRCm39) V293I possibly damaging Het
Ccdc136 C A 6: 29,412,449 (GRCm39) H334Q probably benign Het
Ccdc180 A G 4: 45,911,389 (GRCm39) N568S possibly damaging Het
Cenpf A T 1: 189,394,210 (GRCm39) F515L probably benign Het
Chrm2 T A 6: 36,500,230 (GRCm39) V29E probably damaging Het
Cnot1 A G 8: 96,457,048 (GRCm39) L1956P probably damaging Het
Cyp2d22 T C 15: 82,256,106 (GRCm39) K176R possibly damaging Het
Dnah7a A T 1: 53,496,004 (GRCm39) I3151N probably damaging Het
Dsg1a T A 18: 20,473,304 (GRCm39) D792E probably benign Het
Fam167b A T 4: 129,472,101 (GRCm39) L23* probably null Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Gna14 A G 19: 16,580,707 (GRCm39) T182A probably damaging Het
Hmcn1 A G 1: 150,506,978 (GRCm39) V3738A possibly damaging Het
Hspa4 C T 11: 53,152,539 (GRCm39) G810D probably damaging Het
Igf2bp3 A G 6: 49,094,308 (GRCm39) I154T probably damaging Het
Il1rap G A 16: 26,541,457 (GRCm39) S566N probably damaging Het
Kcnb1 G A 2: 166,947,060 (GRCm39) T596M probably damaging Het
Kcnn1 A C 8: 71,307,800 (GRCm39) S81A probably benign Het
Lmod1 G A 1: 135,291,849 (GRCm39) G235R probably benign Het
Mei1 A T 15: 81,959,389 (GRCm39) R185S possibly damaging Het
Mmrn1 G A 6: 60,952,960 (GRCm39) V414M possibly damaging Het
Mon2 C A 10: 122,868,600 (GRCm39) M484I probably benign Het
Nae1 A T 8: 105,254,034 (GRCm39) D99E probably benign Het
Nsun7 T A 5: 66,453,142 (GRCm39) I619N probably damaging Het
Nudt12 C A 17: 59,314,744 (GRCm39) R280L probably damaging Het
Or1l4 T C 2: 37,091,778 (GRCm39) V175A possibly damaging Het
P2ry1 T A 3: 60,911,596 (GRCm39) I245N probably damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Plek T A 11: 16,940,058 (GRCm39) Y217F probably damaging Het
Plpp1 A T 13: 113,003,399 (GRCm39) I208F possibly damaging Het
Ptges3-ps C T 6: 85,821,537 (GRCm39) noncoding transcript Het
Ptprf A G 4: 118,080,453 (GRCm39) L1267P probably benign Het
Ptprz1 A T 6: 23,045,658 (GRCm39) S2143C probably damaging Het
Scn9a T C 2: 66,314,393 (GRCm39) D1764G probably damaging Het
Serpinb5 T A 1: 106,809,458 (GRCm39) L288Q probably damaging Het
Slc6a20b T G 9: 123,425,251 (GRCm39) M539L probably benign Het
Slfnl1 A G 4: 120,390,558 (GRCm39) T70A probably benign Het
Smtn C A 11: 3,479,608 (GRCm39) L486F probably damaging Het
Sptbn2 G A 19: 4,781,420 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,691 (GRCm39) L144I possibly damaging Het
Tjp3 C T 10: 81,116,980 (GRCm39) R183K probably benign Het
Tnip3 A G 6: 65,502,395 (GRCm39) probably null Het
Tspan12 T A 6: 21,772,770 (GRCm39) M212L probably benign Het
Ttn T A 2: 76,708,385 (GRCm39) probably benign Het
Vmn1r71 T C 7: 10,482,545 (GRCm39) M48V probably benign Het
Vmn2r10 A G 5: 109,143,667 (GRCm39) F761S probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr72 A G 9: 74,058,950 (GRCm39) T348A probably damaging Het
Xrn1 A T 9: 95,856,480 (GRCm39) L333F 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
IGL00978:Gfm2 APN 13 97,299,485 (GRCm39) missense probably benign 0.20
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
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
Predicted Primers PCR Primer
(F):5'- CCTGAGACCCAGTATGATACACTTG -3'
(R):5'- TGAAGGCTTCACACTGACTG -3'

Sequencing Primer
(F):5'- CACTTGCTTTAAACTAAACTGTGGCC -3'
(R):5'- CTTACAGGAGGTATCTAGAGCCATC -3'
Posted On 2017-08-16