Incidental Mutation 'R7312:Efl1'
ID 567669
Institutional Source Beutler Lab
Gene Symbol Efl1
Ensembl Gene ENSMUSG00000038563
Gene Name elongation factor like GTPase 1
Synonyms D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1
MMRRC Submission 045410-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # R7312 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 82297822-82427060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82330652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 275 (M275K)
Ref Sequence ENSEMBL: ENSMUSP00000046046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000179489]
AlphaFold Q8C0D5
Predicted Effect probably benign
Transcript: ENSMUST00000039881
AA Change: M275K

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: M275K

DomainStartEndE-ValueType
Pfam:GTP_EFTU 17 365 7.4e-62 PFAM
low complexity region 435 451 N/A INTRINSIC
Pfam:EFG_II 614 687 4.3e-9 PFAM
EFG_C 986 1075 1.03e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179489
AA Change: M275K

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: M275K

DomainStartEndE-ValueType
Pfam:GTP_EFTU 17 364 8.7e-58 PFAM
low complexity region 435 451 N/A INTRINSIC
Pfam:GTP_EFTU_D2 504 599 1e-7 PFAM
Pfam:EFG_II 614 687 1.8e-9 PFAM
EFG_C 986 1075 1.03e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (60/60)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit late-onset and progressive gait abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T C 3: 89,969,021 (GRCm39) S215P probably benign Het
Ano2 C T 6: 126,016,460 (GRCm39) Q998* probably null Het
Atg9a A T 1: 75,164,736 (GRCm39) V76E probably damaging Het
Cacna1c T C 6: 119,034,172 (GRCm39) I118M Het
Cacna1g T A 11: 94,323,383 (GRCm39) I1274F probably damaging Het
Cd300lg C T 11: 101,937,767 (GRCm39) A199V probably benign Het
Cfap61 C T 2: 145,887,390 (GRCm39) R612* probably null Het
Cpeb4 A T 11: 31,881,417 (GRCm39) Y692F probably damaging Het
Dcun1d1 A G 3: 35,951,940 (GRCm39) probably null Het
Dennd2d T A 3: 106,398,579 (GRCm39) M188K probably benign Het
Dmgdh A G 13: 93,845,354 (GRCm39) probably null Het
Erp29 G T 5: 121,583,392 (GRCm39) A178D probably benign Het
Fbn1 T C 2: 125,308,594 (GRCm39) N156S possibly damaging Het
Frrs1 C T 3: 116,675,426 (GRCm39) T118I probably damaging Het
Frrs1l A G 4: 56,968,230 (GRCm39) W181R probably benign Het
Gprc5b C A 7: 118,583,482 (GRCm39) W129L probably damaging Het
Hoxc9 A G 15: 102,890,593 (GRCm39) H170R probably benign Het
Il12rb2 C T 6: 67,333,617 (GRCm39) D221N probably benign Het
Lmo1 T C 7: 108,742,819 (GRCm39) N28S probably benign Het
Lrrfip2 T A 9: 111,006,525 (GRCm39) probably null Het
Macf1 A T 4: 123,400,130 (GRCm39) F722I probably damaging Het
Mical1 T C 10: 41,355,772 (GRCm39) probably null Het
Mtcl3 A G 10: 29,073,240 (GRCm39) Y844C probably damaging Het
Mtmr11 C T 3: 96,071,855 (GRCm39) T223M possibly damaging Het
Mup21 A G 4: 62,068,468 (GRCm39) V66A probably benign Het
Nav2 C A 7: 49,111,672 (GRCm39) A726D possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nudt21 A T 8: 94,746,227 (GRCm39) V157D probably benign Het
Numa1 T C 7: 101,639,806 (GRCm39) I52T possibly damaging Het
Obscn T C 11: 58,946,442 (GRCm39) D4421G probably benign Het
Oog3 T C 4: 143,886,801 (GRCm39) I106M probably benign Het
Or10g9 A T 9: 39,912,106 (GRCm39) V139E probably benign Het
Or2g25 T C 17: 37,970,403 (GRCm39) T274A possibly damaging Het
Or2z9 T C 8: 72,853,793 (GRCm39) L63P probably damaging Het
Or51f1 T A 7: 102,505,706 (GRCm39) Y261F probably damaging Het
Or5w20 T G 2: 87,726,755 (GRCm39) C71G possibly damaging Het
Orai2 T A 5: 136,179,437 (GRCm39) I199F probably damaging Het
P2rx5 C A 11: 73,055,692 (GRCm39) L50M probably damaging Het
Pdia2 T C 17: 26,416,634 (GRCm39) E215G possibly damaging Het
Pds5a A T 5: 65,823,570 (GRCm39) S74T possibly damaging Het
Phlpp2 A G 8: 110,666,785 (GRCm39) S1105G probably damaging Het
Pi4kb T A 3: 94,891,888 (GRCm39) D189E probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pnlip T A 19: 58,670,134 (GRCm39) V458D probably damaging Het
Ppm1l G A 3: 69,225,044 (GRCm39) V49I probably benign Het
Prl3b1 T A 13: 27,426,473 (GRCm39) M1K probably null Het
Rad1 T A 15: 10,493,367 (GRCm39) C265S probably benign Het
Rnaset2b C T 17: 7,265,427 (GRCm39) S237F probably benign Het
Rtl1 C T 12: 109,561,672 (GRCm39) A56T unknown Het
S1pr2 T C 9: 20,879,238 (GRCm39) I197V probably benign Het
Smyd4 A G 11: 75,281,082 (GRCm39) Q185R probably benign Het
Sox5 T A 6: 144,100,759 (GRCm39) T77S probably benign Het
Sox7 A G 14: 64,185,291 (GRCm39) Y109C probably damaging Het
Styxl2 C T 1: 165,954,676 (GRCm39) V25I probably damaging Het
Tln1 G A 4: 43,545,922 (GRCm39) R898C probably damaging Het
Tmprss11b T A 5: 86,812,173 (GRCm39) E158V probably damaging Het
Tnpo3 C A 6: 29,562,875 (GRCm39) R614L possibly damaging Het
Vmn2r100 T A 17: 19,742,296 (GRCm39) D223E probably benign Het
Zc3h12d A T 10: 7,743,345 (GRCm39) M372L probably benign Het
Zfp28 G T 7: 6,386,593 (GRCm39) probably benign Het
Zfp963 A T 8: 70,195,759 (GRCm39) H231Q probably damaging Het
Zscan4b A G 7: 10,634,867 (GRCm39) S459P probably benign Het
Other mutations in Efl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Efl1 APN 7 82,307,319 (GRCm39) missense probably damaging 1.00
IGL00696:Efl1 APN 7 82,301,080 (GRCm39) splice site probably benign
IGL01344:Efl1 APN 7 82,330,688 (GRCm39) splice site probably benign
IGL01871:Efl1 APN 7 82,412,527 (GRCm39) missense possibly damaging 0.64
IGL01941:Efl1 APN 7 82,347,184 (GRCm39) missense probably benign 0.17
IGL02104:Efl1 APN 7 82,307,263 (GRCm39) critical splice acceptor site probably null
IGL02150:Efl1 APN 7 82,335,899 (GRCm39) missense probably benign
IGL02484:Efl1 APN 7 82,332,247 (GRCm39) missense probably damaging 0.98
IGL03140:Efl1 APN 7 82,342,089 (GRCm39) missense probably benign 0.00
IGL03188:Efl1 APN 7 82,320,909 (GRCm39) missense probably damaging 1.00
IGL03014:Efl1 UTSW 7 82,301,094 (GRCm39) missense probably damaging 1.00
PIT4469001:Efl1 UTSW 7 82,307,373 (GRCm39) missense probably benign 0.14
R0148:Efl1 UTSW 7 82,320,878 (GRCm39) missense probably damaging 1.00
R0226:Efl1 UTSW 7 82,342,219 (GRCm39) splice site probably benign
R0638:Efl1 UTSW 7 82,301,095 (GRCm39) missense probably damaging 1.00
R0684:Efl1 UTSW 7 82,301,094 (GRCm39) missense probably damaging 1.00
R1018:Efl1 UTSW 7 82,412,221 (GRCm39) missense possibly damaging 0.94
R1290:Efl1 UTSW 7 82,320,936 (GRCm39) missense probably damaging 1.00
R1720:Efl1 UTSW 7 82,332,929 (GRCm39) missense possibly damaging 0.50
R1933:Efl1 UTSW 7 82,412,325 (GRCm39) nonsense probably null
R1973:Efl1 UTSW 7 82,412,085 (GRCm39) missense probably damaging 1.00
R2016:Efl1 UTSW 7 82,402,917 (GRCm39) missense probably damaging 1.00
R2124:Efl1 UTSW 7 82,342,121 (GRCm39) missense probably damaging 1.00
R2290:Efl1 UTSW 7 82,426,878 (GRCm39) missense probably damaging 1.00
R2415:Efl1 UTSW 7 82,347,175 (GRCm39) missense probably damaging 1.00
R3545:Efl1 UTSW 7 82,412,018 (GRCm39) missense probably benign 0.00
R3688:Efl1 UTSW 7 82,412,178 (GRCm39) missense probably benign 0.00
R4092:Efl1 UTSW 7 82,412,035 (GRCm39) missense probably benign 0.00
R4207:Efl1 UTSW 7 82,400,024 (GRCm39) missense probably damaging 0.98
R4347:Efl1 UTSW 7 82,347,174 (GRCm39) missense probably damaging 1.00
R4425:Efl1 UTSW 7 82,412,491 (GRCm39) missense probably damaging 0.99
R4816:Efl1 UTSW 7 82,320,927 (GRCm39) missense probably damaging 1.00
R4858:Efl1 UTSW 7 82,320,835 (GRCm39) missense probably damaging 1.00
R5077:Efl1 UTSW 7 82,307,295 (GRCm39) missense probably damaging 1.00
R5185:Efl1 UTSW 7 82,421,707 (GRCm39) missense probably damaging 1.00
R5319:Efl1 UTSW 7 82,323,714 (GRCm39) missense probably damaging 1.00
R5771:Efl1 UTSW 7 82,341,732 (GRCm39) missense probably benign 0.26
R5857:Efl1 UTSW 7 82,412,397 (GRCm39) missense probably benign
R5956:Efl1 UTSW 7 82,301,107 (GRCm39) missense probably damaging 1.00
R6433:Efl1 UTSW 7 82,323,776 (GRCm39) missense probably damaging 1.00
R7131:Efl1 UTSW 7 82,307,272 (GRCm39) missense probably damaging 1.00
R7143:Efl1 UTSW 7 82,411,888 (GRCm39) missense probably damaging 1.00
R7409:Efl1 UTSW 7 82,347,121 (GRCm39) missense probably damaging 0.98
R7422:Efl1 UTSW 7 82,330,587 (GRCm39) missense probably damaging 1.00
R7453:Efl1 UTSW 7 82,330,675 (GRCm39) missense possibly damaging 0.76
R7504:Efl1 UTSW 7 82,332,257 (GRCm39) missense probably damaging 1.00
R7884:Efl1 UTSW 7 82,307,307 (GRCm39) missense probably damaging 1.00
R7969:Efl1 UTSW 7 82,342,178 (GRCm39) missense probably benign 0.03
R8394:Efl1 UTSW 7 82,411,986 (GRCm39) missense probably benign 0.00
R8702:Efl1 UTSW 7 82,399,998 (GRCm39) critical splice acceptor site probably null
R8924:Efl1 UTSW 7 82,412,161 (GRCm39) missense probably benign 0.03
R9463:Efl1 UTSW 7 82,426,733 (GRCm39) missense probably damaging 1.00
R9762:Efl1 UTSW 7 82,412,596 (GRCm39) missense probably benign 0.09
Z1088:Efl1 UTSW 7 82,342,058 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCATTCTGAATGGTATATGGCAAAG -3'
(R):5'- TTGCTCACTGTCTTTACAAAGCG -3'

Sequencing Primer
(F):5'- GAAACAGTGAAGGGTTAGCTGTATTC -3'
(R):5'- CTCACTGTCTTTACAAAGCGAAAGTC -3'
Posted On 2019-06-26