Incidental Mutation 'R8387:Guf1'
ID 647201
Institutional Source Beutler Lab
Gene Symbol Guf1
Ensembl Gene ENSMUSG00000029208
Gene Name GUF1 homolog, GTPase
Synonyms mtEF4
MMRRC Submission 067876-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R8387 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 69714255-69731995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69723810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 463 (P463L)
Ref Sequence ENSEMBL: ENSMUSP00000084480 (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: P375L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: P375L

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: P463L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: P463L

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 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 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 0.9483 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Arl14ep T C 2: 106,799,562 (GRCm39) D93G probably damaging Het
Bcl7b T C 5: 135,197,413 (GRCm39) I18T probably damaging Het
Cdh1 A G 8: 107,390,501 (GRCm39) I614V probably benign Het
Cpa3 T C 3: 20,281,400 (GRCm39) I169V probably benign Het
Cpeb4 T C 11: 31,858,877 (GRCm39) probably null Het
Csmd1 G A 8: 16,050,484 (GRCm39) H2251Y possibly damaging Het
Dab2ip T A 2: 35,609,870 (GRCm39) I695K probably damaging Het
Dhtkd1 C A 2: 5,934,479 (GRCm39) L230F possibly damaging Het
Emc1 T C 4: 139,088,600 (GRCm39) S353P probably benign Het
Erc2 T A 14: 27,375,253 (GRCm39) L157Q possibly damaging Het
Flvcr1 A G 1: 190,743,731 (GRCm39) probably null Het
Fryl A C 5: 73,293,663 (GRCm39) probably null Het
Gnl2 T C 4: 124,949,127 (GRCm39) *729Q probably null Het
Gpr63 G A 4: 25,008,301 (GRCm39) V342M possibly damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ifngr2 T C 16: 91,358,535 (GRCm39) L245P probably damaging Het
Igsf10 A G 3: 59,236,564 (GRCm39) F1206L probably damaging Het
Ktn1 T A 14: 47,944,744 (GRCm39) probably null Het
Lekr1 A G 3: 65,591,520 (GRCm39) K86E possibly damaging Het
Lrrc3 C T 10: 77,737,346 (GRCm39) G30D possibly damaging Het
Mapk8ip2 T C 15: 89,344,897 (GRCm39) F765L probably damaging Het
Myo6 A G 9: 80,183,632 (GRCm39) T676A unknown Het
Nr4a1 T C 15: 101,171,053 (GRCm39) S510P probably damaging Het
Or2o1 T C 11: 49,051,497 (GRCm39) S219P probably damaging Het
Or4c113 T C 2: 88,885,646 (GRCm39) I41M probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or51e1 C T 7: 102,359,402 (GRCm39) T312I probably benign Het
Or5a1 A G 19: 12,097,785 (GRCm39) L97P probably damaging Het
Pdcd1 G A 1: 93,969,193 (GRCm39) L42F probably damaging Het
Pdzd7 T C 19: 45,018,490 (GRCm39) D621G probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pias4 G A 10: 80,990,342 (GRCm39) R398C probably benign Het
Plekha6 A T 1: 133,219,893 (GRCm39) probably null Het
Prkag3 A G 1: 74,784,854 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,606 (GRCm39) T23A probably benign Het
Ptprd T C 4: 75,873,526 (GRCm39) D1069G probably damaging Het
Ptprr A G 10: 116,087,030 (GRCm39) Y503C probably damaging Het
Slc26a8 T C 17: 28,866,899 (GRCm39) D610G probably benign Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Tenm3 A G 8: 48,740,883 (GRCm39) F1200S probably damaging Het
Tox3 A G 8: 90,984,595 (GRCm39) S195P probably benign Het
Trim44 T C 2: 102,230,518 (GRCm39) E171G probably damaging Het
Vars1 T A 17: 35,229,490 (GRCm39) M369K probably damaging Het
Vmn2r77 C A 7: 86,450,947 (GRCm39) Q278K probably benign Het
Zfp345 T C 2: 150,314,740 (GRCm39) T266A 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
R0906:Guf1 UTSW 5 69,723,729 (GRCm39) missense probably damaging 0.99
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
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'- CTGTGAAAAGCAAGCCTGTAAG -3'
(R):5'- TCTATAAGCAAGAGTTTTGGGGAAG -3'

Sequencing Primer
(F):5'- CAAGCCTGTAAGAAAGAGAACTGTG -3'
(R):5'- GAGACAAGGTTTCTCTGTATAGCCC -3'
Posted On 2020-09-02