Incidental Mutation 'R0906:Guf1'
ID 83320
Institutional Source Beutler Lab
Gene Symbol Guf1
Ensembl Gene ENSMUSG00000029208
Gene Name GUF1 homolog, GTPase
Synonyms mtEF4
MMRRC Submission 039064-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R0906 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 69714255-69731995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69723729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 348 (I348T)
Ref Sequence ENSEMBL: ENSMUSP00000031113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031113] [ENSMUST00000087228] [ENSMUST00000132169] [ENSMUST00000144363] [ENSMUST00000154728] [ENSMUST00000173205]
AlphaFold Q8C3X4
Predicted Effect probably damaging
Transcript: ENSMUST00000031113
AA Change: I348T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: I348T

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:GTP_EFTU 48 227 2.9e-53 PFAM
Pfam:MMR_HSR1 52 177 1.1e-7 PFAM
Pfam:Ras 83 227 2.4e-7 PFAM
low complexity region 336 349 N/A INTRINSIC
EFG_C 364 450 9.13e-1 SMART
Pfam:LepA_C 452 559 3.1e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087228
AA Change: I436T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: I436T

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:GTP_EFTU 48 227 3.1e-54 PFAM
Pfam:MMR_HSR1 52 177 4.1e-6 PFAM
Pfam:Ras 83 226 2.9e-7 PFAM
Pfam:GTP_EFTU_D2 250 320 7e-10 PFAM
low complexity region 424 437 N/A INTRINSIC
EFG_C 452 538 9.13e-1 SMART
Pfam:LepA_C 540 646 1.3e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125660
Predicted Effect probably benign
Transcript: ENSMUST00000132169
SMART Domains Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:GTP_EFTU 48 227 6.2e-54 PFAM
Pfam:MMR_HSR1 52 177 6.2e-6 PFAM
Pfam:Ras 83 226 1.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144363
SMART Domains Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208

DomainStartEndE-ValueType
low complexity region 1 23 N/A INTRINSIC
Pfam:GTP_EFTU 42 221 5.8e-54 PFAM
Pfam:MMR_HSR1 46 171 5.9e-6 PFAM
Pfam:Ras 77 220 1.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202180
Predicted Effect probably benign
Transcript: ENSMUST00000154728
SMART Domains Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:GTP_EFTU 48 227 6.2e-54 PFAM
Pfam:MMR_HSR1 52 177 6.2e-6 PFAM
Pfam:Ras 83 226 1.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173205
SMART Domains Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208

DomainStartEndE-ValueType
Pfam:GTP_EFTU 11 190 1.1e-53 PFAM
Pfam:MMR_HSR1 15 140 2.6e-8 PFAM
Pfam:Ras 46 190 1.6e-7 PFAM
Pfam:GTP_EFTU_D2 213 283 3.1e-9 PFAM
Pfam:EFG_C 369 454 1e-16 PFAM
Pfam:LepA_C 455 562 4.5e-50 PFAM
Meta Mutation Damage Score 0.5091 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,665,430 (GRCm39) probably benign Het
Atp7b T C 8: 22,517,842 (GRCm39) H332R probably benign Het
Bace2 C T 16: 97,158,141 (GRCm39) P47L possibly damaging Het
Cyp2c39 A G 19: 39,499,315 (GRCm39) M1V probably null Het
Dcbld2 A G 16: 58,275,610 (GRCm39) E442G probably damaging Het
Gm14496 A G 2: 181,642,308 (GRCm39) T660A probably damaging Het
Gm4945 A C 17: 47,353,796 (GRCm39) noncoding transcript Het
Gm6729 T C 10: 86,376,456 (GRCm39) noncoding transcript Het
Golga1 G A 2: 38,937,655 (GRCm39) R204W probably damaging Het
Htra4 T A 8: 25,527,160 (GRCm39) I212L probably benign Het
Itih5 G A 2: 10,253,999 (GRCm39) R750Q probably benign Het
Lgalsl2 T C 7: 5,362,828 (GRCm39) I153T probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Nsd1 T C 13: 55,425,403 (GRCm39) V1520A probably benign Het
Nuak1 C T 10: 84,211,144 (GRCm39) V315I probably damaging Het
Nup205 G T 6: 35,213,827 (GRCm39) G1740C probably damaging Het
Or1r1 G C 11: 73,874,685 (GRCm39) L250V probably damaging Het
Pclo T C 5: 14,726,700 (GRCm39) probably benign Het
Pik3r6 T C 11: 68,426,927 (GRCm39) probably benign Het
Pikfyve T A 1: 65,292,556 (GRCm39) F1336I probably damaging Het
Pla2r1 A G 2: 60,345,291 (GRCm39) I355T possibly damaging Het
Rgs22 A T 15: 36,104,048 (GRCm39) probably benign Het
Sec63 T A 10: 42,677,924 (GRCm39) M312K probably damaging Het
Slc2a5 T C 4: 150,227,287 (GRCm39) I401T probably benign Het
Slc9a8 G T 2: 167,276,787 (GRCm39) probably benign Het
Stab1 T C 14: 30,867,206 (GRCm39) E1718G probably benign Het
Terb1 A T 8: 105,179,268 (GRCm39) I640N probably damaging Het
Tmem217 A G 17: 29,745,490 (GRCm39) L80P probably damaging Het
Topbp1 C T 9: 103,205,792 (GRCm39) P810L probably benign Het
Ttbk2 G A 2: 120,614,262 (GRCm39) R151C probably damaging Het
Vmn2r88 T G 14: 51,655,666 (GRCm39) L626R probably damaging Het
Other mutations in Guf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01580:Guf1 APN 5 69,722,764 (GRCm39) splice site probably benign
IGL01739:Guf1 APN 5 69,718,501 (GRCm39) missense probably damaging 1.00
IGL03110:Guf1 APN 5 69,715,820 (GRCm39) missense probably damaging 1.00
R0054:Guf1 UTSW 5 69,716,904 (GRCm39) synonymous silent
R0219:Guf1 UTSW 5 69,716,929 (GRCm39) missense probably damaging 1.00
R0269:Guf1 UTSW 5 69,716,942 (GRCm39) missense probably damaging 0.99
R0624:Guf1 UTSW 5 69,715,923 (GRCm39) missense probably damaging 1.00
R0690:Guf1 UTSW 5 69,723,695 (GRCm39) splice site probably null
R1082:Guf1 UTSW 5 69,724,555 (GRCm39) missense possibly damaging 0.95
R1386:Guf1 UTSW 5 69,720,505 (GRCm39) missense probably benign
R1506:Guf1 UTSW 5 69,724,509 (GRCm39) missense possibly damaging 0.85
R1859:Guf1 UTSW 5 69,725,803 (GRCm39) nonsense probably null
R1982:Guf1 UTSW 5 69,724,569 (GRCm39) nonsense probably null
R3782:Guf1 UTSW 5 69,724,495 (GRCm39) missense probably benign 0.01
R3847:Guf1 UTSW 5 69,718,500 (GRCm39) missense probably damaging 0.99
R4172:Guf1 UTSW 5 69,715,572 (GRCm39) missense possibly damaging 0.88
R4513:Guf1 UTSW 5 69,719,005 (GRCm39) missense probably benign 0.00
R4592:Guf1 UTSW 5 69,723,786 (GRCm39) missense possibly damaging 0.55
R4811:Guf1 UTSW 5 69,721,852 (GRCm39) splice site probably null
R5435:Guf1 UTSW 5 69,720,512 (GRCm39) missense probably benign 0.01
R5792:Guf1 UTSW 5 69,717,829 (GRCm39) missense probably damaging 1.00
R6181:Guf1 UTSW 5 69,719,059 (GRCm39) missense probably damaging 1.00
R6246:Guf1 UTSW 5 69,715,898 (GRCm39) missense probably damaging 1.00
R6411:Guf1 UTSW 5 69,717,854 (GRCm39) missense possibly damaging 0.87
R6701:Guf1 UTSW 5 69,715,596 (GRCm39) missense probably damaging 1.00
R6724:Guf1 UTSW 5 69,723,736 (GRCm39) missense probably damaging 0.99
R7634:Guf1 UTSW 5 69,721,887 (GRCm39) missense probably damaging 0.97
R7923:Guf1 UTSW 5 69,718,502 (GRCm39) missense probably benign 0.01
R8202:Guf1 UTSW 5 69,720,545 (GRCm39) missense possibly damaging 0.95
R8387:Guf1 UTSW 5 69,723,810 (GRCm39) missense probably damaging 1.00
R9567:Guf1 UTSW 5 69,721,951 (GRCm39) missense possibly damaging 0.93
R9734:Guf1 UTSW 5 69,726,605 (GRCm39) nonsense probably null
X0018:Guf1 UTSW 5 69,723,709 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTAGGTGACAGTCTGATCTTCAGGTGT -3'
(R):5'- AAAAGGAAACTTCCCAGCAGAAGGACTC -3'

Sequencing Primer
(F):5'- ACAGTCTGATCTTCAGGTGTCTTTC -3'
(R):5'- CTCCTATGAAATGGAAGCTGATAAGC -3'
Posted On 2013-11-08