Incidental Mutation 'IGL02150:Efl1'
ID 281974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efl1
Ensembl Gene ENSMUSG00000038563
Gene Name elongation factor like GTPase 1
Synonyms D7Ertd791e, 6030468D11Rik, 4932434J20Rik, Eftud1
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # IGL02150
Quality Score
Status
Chromosome 7
Chromosomal Location 82297822-82427060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82335899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 407 (T407A)
Ref Sequence ENSEMBL: ENSMUSP00000137061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000179489]
AlphaFold Q8C0D5
Predicted Effect probably benign
Transcript: ENSMUST00000039881
AA Change: T407A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563
AA Change: T407A

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 noncoding transcript
Transcript: ENSMUST00000125245
Predicted Effect probably benign
Transcript: ENSMUST00000179489
AA Change: T407A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563
AA Change: T407A

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
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a C T 9: 65,420,001 (GRCm39) G92S probably damaging Het
Arid1a A T 4: 133,414,568 (GRCm39) M1221K unknown Het
Arl10 G A 13: 54,726,662 (GRCm39) V147M probably damaging Het
Bbs4 T C 9: 59,243,651 (GRCm39) N152S probably benign Het
Cacna2d2 T G 9: 107,404,515 (GRCm39) probably benign Het
Capn9 A G 8: 125,340,582 (GRCm39) E582G probably benign Het
Cct2 A T 10: 116,898,004 (GRCm39) L61Q probably damaging Het
Clip4 A G 17: 72,106,071 (GRCm39) I85V probably damaging Het
Daam2 A T 17: 49,797,332 (GRCm39) L151Q possibly damaging Het
Dlst T A 12: 85,177,807 (GRCm39) I400N possibly damaging Het
Dock7 A T 4: 98,968,089 (GRCm39) probably benign Het
Dynlrb2 A G 8: 117,242,449 (GRCm39) N93S probably benign Het
Emilin1 A G 5: 31,077,517 (GRCm39) D891G possibly damaging Het
Enpp4 A C 17: 44,413,049 (GRCm39) S162A probably benign Het
Epas1 A G 17: 87,112,717 (GRCm39) D105G probably damaging Het
Fcgbpl1 T A 7: 27,846,204 (GRCm39) Y965* probably null Het
Gcn1 T A 5: 115,747,927 (GRCm39) I1778N probably damaging Het
Gm14496 A C 2: 181,633,140 (GRCm39) D41A probably damaging Het
Gm7008 T A 12: 40,273,257 (GRCm39) probably benign Het
Hcfc2 G A 10: 82,545,852 (GRCm39) S246N probably damaging Het
Hectd1 T C 12: 51,815,974 (GRCm39) N1366S probably damaging Het
Lgmn T C 12: 102,361,986 (GRCm39) R372G possibly damaging Het
Map2k7 A G 8: 4,293,818 (GRCm39) M153V possibly damaging Het
Megf8 T A 7: 25,045,842 (GRCm39) probably null Het
Mgat4c A C 10: 102,224,983 (GRCm39) E399A probably benign Het
Myorg A G 4: 41,499,183 (GRCm39) V149A possibly damaging Het
Nfat5 C T 8: 108,094,584 (GRCm39) Q942* probably null Het
Notch4 A G 17: 34,803,587 (GRCm39) E1502G probably damaging Het
Optn A C 2: 5,037,963 (GRCm39) I410M probably damaging Het
Or6b9 G T 7: 106,555,763 (GRCm39) P127T probably damaging Het
Or8c17 A T 9: 38,180,564 (GRCm39) I252L possibly damaging Het
Ppp1ca G A 19: 4,244,698 (GRCm39) probably benign Het
Pramel5 C A 4: 143,999,771 (GRCm39) L105F possibly damaging Het
Rad54b T A 4: 11,610,502 (GRCm39) N706K probably damaging Het
Rgs11 A T 17: 26,421,968 (GRCm39) T6S probably benign Het
Sbf1 T C 15: 89,179,683 (GRCm39) H1308R probably benign Het
Scart2 G A 7: 139,877,772 (GRCm39) G918D possibly damaging Het
Sec31a T C 5: 100,533,984 (GRCm39) probably benign Het
Sh2d5 G A 4: 137,985,553 (GRCm39) D334N probably benign Het
Skint5 T A 4: 113,742,988 (GRCm39) I360F unknown Het
Slc12a1 G A 2: 125,026,735 (GRCm39) D457N probably damaging Het
Slco2a1 C T 9: 102,962,017 (GRCm39) A563V probably damaging Het
Snrnp35 G A 5: 124,628,471 (GRCm39) A95T probably damaging Het
Snx25 C A 8: 46,569,318 (GRCm39) R193L possibly damaging Het
Stxbp5 T G 10: 9,638,565 (GRCm39) Q1078P probably damaging Het
Tmc2 A T 2: 130,082,073 (GRCm39) I419F probably damaging Het
Tmem87a A T 2: 120,190,557 (GRCm39) W525R probably damaging Het
Trhde A T 10: 114,428,013 (GRCm39) S428T probably damaging Het
Trp73 G A 4: 154,165,943 (GRCm39) A42V possibly damaging Het
Ttn T C 2: 76,679,316 (GRCm39) probably benign Het
Ttn C T 2: 76,598,846 (GRCm39) V19356M probably damaging Het
Vmn1r170 T A 7: 23,306,465 (GRCm39) L289* probably null Het
Vwa5b2 A T 16: 20,423,576 (GRCm39) Q1163L probably benign Het
Washc2 T A 6: 116,208,593 (GRCm39) probably benign Het
Wdr70 T G 15: 8,112,030 (GRCm39) K71T possibly damaging Het
Zbtb41 T C 1: 139,368,186 (GRCm39) S625P possibly damaging Het
Zfp518b A G 5: 38,830,686 (GRCm39) S440P probably damaging Het
Zfp518b A G 5: 38,831,132 (GRCm39) V291A probably damaging Het
Zmym2 G A 14: 57,148,526 (GRCm39) 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
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
R7312:Efl1 UTSW 7 82,330,652 (GRCm39) missense probably benign 0.10
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
Posted On 2015-04-16