Incidental Mutation 'R7634:Guf1'
ID 589807
Institutional Source Beutler Lab
Gene Symbol Guf1
Ensembl Gene ENSMUSG00000029208
Gene Name GUF1 homolog, GTPase
Synonyms mtEF4
MMRRC Submission 045693-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R7634 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 69714255-69731995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69721887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 349 (S349P)
Ref Sequence ENSEMBL: ENSMUSP00000084480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031113] [ENSMUST00000087228] [ENSMUST00000132169] [ENSMUST00000144363] [ENSMUST00000154728] [ENSMUST00000173205]
AlphaFold Q8C3X4
Predicted Effect probably benign
Transcript: ENSMUST00000031113
SMART Domains Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208

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: S349P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: S349P

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
AA Change: I302T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: I302T

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
AA Change: I296T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: I296T

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
AA Change: I302T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: I302T

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
SMART Domains Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: S336P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,102 (GRCm39) M116L probably benign Het
Adam25 A G 8: 41,207,883 (GRCm39) D383G probably benign Het
Adam26b T A 8: 43,974,034 (GRCm39) M323L probably benign Het
Adgrf3 T C 5: 30,407,245 (GRCm39) H227R probably benign Het
Antxr1 G A 6: 87,114,273 (GRCm39) T498I probably benign Het
Arg1 T A 10: 24,791,627 (GRCm39) T285S possibly damaging Het
Arhgdig T C 17: 26,418,365 (GRCm39) D206G probably damaging Het
Asb10 C A 5: 24,745,875 (GRCm39) C17F possibly damaging Het
Atg2b T C 12: 105,618,379 (GRCm39) D891G probably damaging Het
Cacna1h A T 17: 25,611,083 (GRCm39) S572T possibly damaging Het
Cenpj T C 14: 56,780,257 (GRCm39) T985A probably benign Het
Cfap65 G T 1: 74,941,593 (GRCm39) N1780K probably damaging Het
Cyp26c1 T C 19: 37,681,447 (GRCm39) Y417H probably damaging Het
Dnajb13 G T 7: 100,152,393 (GRCm39) Q308K probably benign Het
Fam107b T C 2: 3,771,777 (GRCm39) S3P possibly damaging Het
Gm3127 A G 14: 15,425,787 (GRCm39) N64S probably damaging Het
Gm4847 A C 1: 166,460,249 (GRCm39) N412K probably benign Het
Gtf3c3 A T 1: 54,458,800 (GRCm39) probably null Het
Hvcn1 A G 5: 122,371,586 (GRCm39) Y42C probably damaging Het
Insm1 A G 2: 146,065,027 (GRCm39) Y281C probably damaging Het
Lrrc71 A G 3: 87,650,281 (GRCm39) I264T probably damaging Het
Lrriq1 T C 10: 103,036,462 (GRCm39) N897S probably damaging Het
Mtmr6 T A 14: 60,533,596 (GRCm39) F375I probably damaging Het
Mtor G C 4: 148,536,807 (GRCm39) S27T possibly damaging Het
Mylk4 T A 13: 32,892,891 (GRCm39) K387N possibly damaging Het
Nadk2 T G 15: 9,092,935 (GRCm39) D247E probably benign Het
Nfya T C 17: 48,699,445 (GRCm39) T213A probably damaging Het
Nlrp1a A G 11: 70,990,354 (GRCm39) V1067A probably benign Het
Nrbp2 C T 15: 75,959,257 (GRCm39) R206Q possibly damaging Het
Oas2 A G 5: 120,871,293 (GRCm39) V722A probably benign Het
Odad4 G A 11: 100,452,731 (GRCm39) probably null Het
Or4c108 G T 2: 88,804,001 (GRCm39) P78Q probably damaging Het
Pcdhb2 G T 18: 37,428,000 (GRCm39) probably benign Het
Pdpr T A 8: 111,852,317 (GRCm39) H561Q probably damaging Het
Plcz1 A G 6: 139,961,853 (GRCm39) F233L probably damaging Het
Ppp1r3d A G 2: 178,055,165 (GRCm39) I279T probably damaging Het
Psg17 A G 7: 18,548,416 (GRCm39) Y452H probably damaging Het
Reg4 T C 3: 98,140,428 (GRCm39) probably null Het
Rint1 A G 5: 24,010,477 (GRCm39) T229A probably benign Het
Robo1 T G 16: 72,839,866 (GRCm39) probably null Het
Slc22a26 A C 19: 7,779,952 (GRCm39) probably null Het
Slc22a7 C T 17: 46,749,156 (GRCm39) A54T probably benign Het
Slc52a3 C A 2: 151,846,534 (GRCm39) T165N possibly damaging Het
Slc7a11 C T 3: 50,378,486 (GRCm39) probably null Het
Smap2 T C 4: 120,873,996 (GRCm39) N18S probably benign Het
Spag6l T C 16: 16,595,278 (GRCm39) E369G probably damaging Het
Tars3 T A 7: 65,325,760 (GRCm39) Y445N probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmprss7 C T 16: 45,483,637 (GRCm39) G579D probably benign Het
Tpi1 T A 6: 124,789,817 (GRCm39) K109* probably null Het
Ttn T C 2: 76,628,856 (GRCm39) E14466G possibly damaging Het
Usp40 A T 1: 87,890,152 (GRCm39) C903* probably null Het
Vinac1 T A 2: 128,880,192 (GRCm39) D578V Het
Vmn2r104 T A 17: 20,261,971 (GRCm39) L386F possibly damaging Het
Vmn2r54 G A 7: 12,349,630 (GRCm39) P651S probably damaging Het
Wnk4 C A 11: 101,153,721 (GRCm39) T261K probably damaging Het
Wnt2b T C 3: 104,854,432 (GRCm39) Y342C probably damaging Het
Zbtb8b A G 4: 129,326,755 (GRCm39) Y137H 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
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'- CTGACAGTTTTACTTACAGTAGTGG -3'
(R):5'- ATGAGCAACACATCCAATTAGAAGG -3'

Sequencing Primer
(F):5'- ATTTGTCTGAAAGCATAAAATCACTG -3'
(R):5'- CCGATGCACTGTTACACT -3'
Posted On 2019-10-24