Incidental Mutation 'R6041:Gfm2'
ID 483571
Institutional Source Beutler Lab
Gene Symbol Gfm2
Ensembl Gene ENSMUSG00000021666
Gene Name G elongation factor, mitochondrial 2
Synonyms EFG2, MST027, A930009M04Rik, 6530419G12Rik
MMRRC Submission 044209-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.884) question?
Stock # R6041 (G1)
Quality Score 180.009
Status Validated
Chromosome 13
Chromosomal Location 97274445-97317703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97309131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 612 (V612E)
Ref Sequence ENSEMBL: ENSMUSP00000125088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022169] [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913]
AlphaFold Q8R2Q4
Predicted Effect probably benign
Transcript: ENSMUST00000022169
SMART Domains Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Glycohydro_20b2 35 157 7.1e-24 PFAM
Pfam:Glyco_hydro_20 179 496 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022170
AA Change: V610E

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: V610E

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: V585E

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: V585E

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 noncoding transcript
Transcript: ENSMUST00000159321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160989
Predicted Effect probably benign
Transcript: ENSMUST00000161639
AA Change: V612E

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: V612E

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: V612E

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: V612E

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 benign
Transcript: ENSMUST00000161913
SMART Domains Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,354 (GRCm39) M297K probably damaging Het
Ace A C 11: 105,866,134 (GRCm39) H34P probably benign Het
Agbl2 A T 2: 90,638,371 (GRCm39) N652I probably benign Het
Auh T A 13: 53,073,122 (GRCm39) L86F possibly damaging Het
Bmp10 A G 6: 87,411,302 (GRCm39) K365R probably damaging Het
Cacna1d A T 14: 29,764,314 (GRCm39) S2086T probably damaging Het
Calcoco1 C A 15: 102,626,374 (GRCm39) R105L possibly damaging Het
Casc3 T G 11: 98,719,385 (GRCm39) V509G probably damaging Het
Clmn A G 12: 104,748,131 (GRCm39) V472A probably benign Het
Cyp2b19 A T 7: 26,458,852 (GRCm39) S142C probably damaging Het
Derl3 T C 10: 75,729,335 (GRCm39) L26P probably damaging Het
Dgkh C T 14: 78,825,067 (GRCm39) A863T probably damaging Het
Dhx30 C T 9: 109,913,666 (GRCm39) R1127Q probably benign Het
Dmxl2 A G 9: 54,324,037 (GRCm39) S1116P probably damaging Het
Dnah7b T C 1: 46,328,805 (GRCm39) V3179A probably benign Het
Dnajb11 A T 16: 22,687,471 (GRCm39) N156I probably benign Het
Dpep1 A T 8: 123,927,394 (GRCm39) E316V probably damaging Het
Entrep1 A T 19: 23,962,193 (GRCm39) M270K probably benign Het
F2rl2 T A 13: 95,837,617 (GRCm39) F221I probably benign Het
Flg2 T A 3: 93,127,668 (GRCm39) D173E probably benign Het
Fshr A T 17: 89,293,414 (GRCm39) D421E probably damaging Het
Gm17655 T G 5: 110,195,439 (GRCm39) K114N possibly damaging Het
Gm45844 C A 7: 7,281,183 (GRCm39) probably benign Het
Gpr142 A T 11: 114,697,203 (GRCm39) I250F probably damaging Het
Hexa A G 9: 59,470,519 (GRCm39) Q447R probably damaging Het
Leng8 T C 7: 4,148,568 (GRCm39) L780P probably benign Het
Lrrk1 T C 7: 65,911,881 (GRCm39) D1893G probably benign Het
Macf1 T A 4: 123,407,641 (GRCm39) I139F probably damaging Het
Megf10 A T 18: 57,313,621 (GRCm39) T22S probably benign Het
Mup-ps1 C A 4: 60,088,549 (GRCm39) noncoding transcript Het
Myh13 A T 11: 67,255,556 (GRCm39) E1642V probably damaging Het
Myof A G 19: 37,913,068 (GRCm39) Y1462H probably damaging Het
Nipbl T A 15: 8,353,748 (GRCm39) D1765V probably damaging Het
Npy5r A T 8: 67,134,675 (GRCm39) N39K possibly damaging Het
Or5m13b G A 2: 85,753,735 (GRCm39) G41D probably damaging Het
Pax6 A G 2: 105,514,247 (GRCm39) I29V probably damaging Het
Pi4ka A G 16: 17,178,436 (GRCm39) Y307H probably benign Het
Pmf1 A C 3: 88,303,358 (GRCm39) Y68D probably damaging Het
Psen2 C A 1: 180,073,292 (GRCm39) E10* probably null Het
Ptprs T A 17: 56,726,080 (GRCm39) M991L probably benign Het
R3hdm4 A G 10: 79,749,495 (GRCm39) V20A possibly damaging Het
Rad17 T C 13: 100,754,274 (GRCm39) N649D probably benign Het
Rad9b A T 5: 122,489,415 (GRCm39) C38S probably damaging Het
Rapgef2 T C 3: 78,976,469 (GRCm39) M1296V probably benign Het
Rbp3 T C 14: 33,678,439 (GRCm39) S796P probably damaging Het
Rpl10-ps3 A G 9: 50,256,082 (GRCm39) S54P probably benign Het
Sclt1 T A 3: 41,581,612 (GRCm39) I688F probably damaging Het
Scn10a A G 9: 119,438,535 (GRCm39) I1778T probably damaging Het
Scrib C T 15: 75,939,021 (GRCm39) R159Q possibly damaging Het
Senp1 C T 15: 97,956,097 (GRCm39) E441K probably damaging Het
Sipa1l1 T A 12: 82,389,024 (GRCm39) F417I probably damaging Het
Slco1a7 A C 6: 141,684,764 (GRCm39) D230E probably benign Het
Smcr8 A G 11: 60,670,394 (GRCm39) D514G probably damaging Het
Tbc1d23 T G 16: 56,993,513 (GRCm39) D551A probably benign Het
Tet1 G T 10: 62,649,152 (GRCm39) T149N probably damaging Het
Them4 A T 3: 94,224,806 (GRCm39) D61V possibly damaging Het
Trak1 A T 9: 121,289,478 (GRCm39) I597F probably damaging Het
Trank1 A G 9: 111,206,864 (GRCm39) I1666V possibly damaging Het
Vipr2 A C 12: 116,106,604 (GRCm39) N378T probably damaging Het
Zfp804b T C 5: 6,821,231 (GRCm39) R575G probably benign Het
Zfp941 A T 7: 140,392,158 (GRCm39) C400* probably null Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATTATCCTGGCAAACGTTGAGC -3'
(R):5'- TGTAGCACACGGACCAACTC -3'

Sequencing Primer
(F):5'- CAAACGTTGAGCCTCGAGTG -3'
(R):5'- CTCGGAGGCTGAGTGTAACATC -3'
Posted On 2017-07-14