Incidental Mutation 'R0815:Gfm1'
ID 78558
Institutional Source Beutler Lab
Gene Symbol Gfm1
Ensembl Gene ENSMUSG00000027774
Gene Name G elongation factor, mitochondrial 1
Synonyms D3Wsu133e
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0815 (G1)
Quality Score 211
Status Validated
Chromosome 3
Chromosomal Location 67337448-67382401 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67381928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 705 (S705P)
Ref Sequence ENSEMBL: ENSMUSP00000076503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054825] [ENSMUST00000077271]
AlphaFold Q8K0D5
Predicted Effect probably benign
Transcript: ENSMUST00000054825
SMART Domains Protein: ENSMUSP00000056728
Gene: ENSMUSG00000049404

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
Pfam:Latexin 81 299 8e-103 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000077271
AA Change: S705P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: S705P

DomainStartEndE-ValueType
Pfam:GTP_EFTU 45 320 3.5e-65 PFAM
Pfam:GTP_EFTU_D2 366 432 6e-18 PFAM
Pfam:EFG_II 446 520 1.9e-31 PFAM
EFG_IV 522 642 1.64e-47 SMART
EFG_C 644 731 2.16e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195639
Meta Mutation Damage Score 0.9580 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Gfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Gfm1 APN 3 67,345,893 (GRCm39) missense possibly damaging 0.79
IGL01377:Gfm1 APN 3 67,382,086 (GRCm39) missense probably damaging 1.00
IGL01397:Gfm1 APN 3 67,350,991 (GRCm39) missense probably benign 0.09
IGL01738:Gfm1 APN 3 67,363,994 (GRCm39) missense probably benign 0.15
IGL02679:Gfm1 APN 3 67,382,100 (GRCm39) missense possibly damaging 0.56
IGL03271:Gfm1 APN 3 67,382,076 (GRCm39) missense probably damaging 1.00
R0389:Gfm1 UTSW 3 67,365,251 (GRCm39) missense probably benign 0.00
R0863:Gfm1 UTSW 3 67,381,928 (GRCm39) missense probably damaging 1.00
R1626:Gfm1 UTSW 3 67,345,977 (GRCm39) missense probably damaging 1.00
R1843:Gfm1 UTSW 3 67,342,943 (GRCm39) missense probably damaging 1.00
R1931:Gfm1 UTSW 3 67,363,918 (GRCm39) missense probably benign 0.44
R2097:Gfm1 UTSW 3 67,357,079 (GRCm39) missense probably damaging 0.97
R2149:Gfm1 UTSW 3 67,381,893 (GRCm39) missense probably damaging 1.00
R2337:Gfm1 UTSW 3 67,342,847 (GRCm39) missense probably damaging 1.00
R3739:Gfm1 UTSW 3 67,364,033 (GRCm39) missense probably damaging 1.00
R4193:Gfm1 UTSW 3 67,339,053 (GRCm39) missense probably damaging 1.00
R4661:Gfm1 UTSW 3 67,340,731 (GRCm39) missense probably damaging 1.00
R5023:Gfm1 UTSW 3 67,380,877 (GRCm39) missense probably damaging 1.00
R5057:Gfm1 UTSW 3 67,380,877 (GRCm39) missense probably damaging 1.00
R5503:Gfm1 UTSW 3 67,361,060 (GRCm39) critical splice donor site probably null
R5692:Gfm1 UTSW 3 67,342,955 (GRCm39) missense probably damaging 1.00
R5771:Gfm1 UTSW 3 67,342,895 (GRCm39) missense probably benign 0.11
R6232:Gfm1 UTSW 3 67,375,215 (GRCm39) missense possibly damaging 0.52
R6234:Gfm1 UTSW 3 67,342,847 (GRCm39) missense probably damaging 1.00
R6514:Gfm1 UTSW 3 67,380,879 (GRCm39) missense probably benign
R6911:Gfm1 UTSW 3 67,358,636 (GRCm39) missense possibly damaging 0.83
R7295:Gfm1 UTSW 3 67,347,514 (GRCm39) missense probably benign 0.30
R7899:Gfm1 UTSW 3 67,380,860 (GRCm39) missense probably benign 0.10
R8321:Gfm1 UTSW 3 67,337,594 (GRCm39) missense probably benign
R8465:Gfm1 UTSW 3 67,339,032 (GRCm39) missense probably damaging 1.00
R8473:Gfm1 UTSW 3 67,361,051 (GRCm39) missense possibly damaging 0.71
R9745:Gfm1 UTSW 3 67,358,657 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GCCCAACGTGTCTGTCTGTCTG -3'
(R):5'- TCCATCATCCCCAAGTGTGGTAGTC -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- TCCCCAAGTGTGGTAGTCAAATAG -3'
Posted On 2013-10-16