Incidental Mutation 'IGL03130:LTO1'
ID 410294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol LTO1
Ensembl Gene ENSMUSG00000031072
Gene Name ABCE maturation factor
Synonyms 2210010N10Rik, Oraov1, TAOS1
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # IGL03130
Quality Score
Status
Chromosome 7
Chromosomal Location 144468837-144485438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144470197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 42 (E42G)
Ref Sequence ENSEMBL: ENSMUSP00000115840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033388] [ENSMUST00000105895] [ENSMUST00000128057] [ENSMUST00000141737]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033388
AA Change: E42G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033388
Gene: ENSMUSG00000031072
AA Change: E42G

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 2.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093964
Predicted Effect possibly damaging
Transcript: ENSMUST00000105895
AA Change: E42G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101515
Gene: ENSMUSG00000031072
AA Change: E42G

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128057
AA Change: E42G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115840
Gene: ENSMUSG00000031072
AA Change: E42G

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 7.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207094
Predicted Effect probably benign
Transcript: ENSMUST00000207453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227063
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 G T 10: 85,224,347 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,622,403 (GRCm39) E941G possibly damaging Het
Akap11 A T 14: 78,747,808 (GRCm39) Y1526* probably null Het
Brd1 T C 15: 88,572,577 (GRCm39) I1165V probably benign Het
Cdan1 T C 2: 120,558,393 (GRCm39) D473G possibly damaging Het
Clstn3 G A 6: 124,436,222 (GRCm39) L176F probably damaging Het
Ctif T C 18: 75,654,689 (GRCm39) N279S probably benign Het
Dpy19l3 A G 7: 35,452,097 (GRCm39) S16P probably benign Het
Ecpas A T 4: 58,800,288 (GRCm39) C1806S probably benign Het
Fam151b T C 13: 92,586,701 (GRCm39) Y244C probably benign Het
Gbf1 T C 19: 46,255,787 (GRCm39) M750T possibly damaging Het
Gm11564 T A 11: 99,705,879 (GRCm39) T184S unknown Het
Gnptab A G 10: 88,272,233 (GRCm39) K958E possibly damaging Het
Hibch T C 1: 52,924,310 (GRCm39) S162P possibly damaging Het
Itpr1 T C 6: 108,500,362 (GRCm39) S2651P probably benign Het
Lyrm1 A G 7: 119,513,403 (GRCm39) D56G probably damaging Het
Manba T C 3: 135,256,920 (GRCm39) Y528H probably damaging Het
Npas2 A C 1: 39,352,109 (GRCm39) E186D probably damaging Het
Or4f61 A T 2: 111,922,166 (GRCm39) D293E probably benign Het
Or7c19 A T 8: 85,957,258 (GRCm39) I45F possibly damaging Het
Or7d11 C A 9: 19,966,668 (GRCm39) L30F probably benign Het
Pcdhb6 T A 18: 37,468,640 (GRCm39) Y520* probably null Het
Plekhm1 C T 11: 103,268,207 (GRCm39) R588H probably benign Het
Psg23 A T 7: 18,344,341 (GRCm39) H371Q probably benign Het
Ptpn12 T C 5: 21,207,610 (GRCm39) probably benign Het
Rela T C 19: 5,689,909 (GRCm39) C120R probably damaging Het
Rps6kc1 T A 1: 190,532,008 (GRCm39) I665F probably damaging Het
Spg21 A G 9: 65,380,990 (GRCm39) Q99R probably benign Het
St14 A G 9: 31,008,367 (GRCm39) probably null Het
Sult1c2 A T 17: 54,137,099 (GRCm39) N274K probably benign Het
Syk T C 13: 52,776,768 (GRCm39) V256A probably benign Het
Tcte1 A G 17: 45,844,222 (GRCm39) D66G probably damaging Het
Tgm4 C T 9: 122,885,580 (GRCm39) T374M probably damaging Het
Tns4 T C 11: 98,959,095 (GRCm39) H668R probably damaging Het
Tsn C T 1: 118,232,999 (GRCm39) A102T possibly damaging Het
Uvssa T A 5: 33,549,189 (GRCm39) S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 (GRCm39) Y31F possibly damaging Het
Vmn2r114 A T 17: 23,515,970 (GRCm39) probably benign Het
Vmn2r27 T C 6: 124,169,276 (GRCm39) D618G possibly damaging Het
Vmn2r91 T A 17: 18,330,373 (GRCm39) probably benign Het
Vti1a T C 19: 55,380,279 (GRCm39) Y143H probably damaging Het
Zfand4 T A 6: 116,250,620 (GRCm39) Y17N probably damaging Het
Zfp729a T C 13: 67,767,761 (GRCm39) probably null Het
Zfp827 A G 8: 79,787,586 (GRCm39) T251A probably damaging Het
Other mutations in LTO1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:LTO1 APN 7 144,471,405 (GRCm39) missense possibly damaging 0.94
IGL00565:LTO1 APN 7 144,470,220 (GRCm39) missense probably damaging 0.99
PIT4382001:LTO1 UTSW 7 144,470,181 (GRCm39) missense probably damaging 1.00
R0784:LTO1 UTSW 7 144,473,014 (GRCm39) missense probably benign 0.33
R1938:LTO1 UTSW 7 144,470,205 (GRCm39) missense probably damaging 0.99
R4115:LTO1 UTSW 7 144,473,383 (GRCm39) missense possibly damaging 0.78
R4695:LTO1 UTSW 7 144,482,715 (GRCm39) splice site probably null
R6056:LTO1 UTSW 7 144,469,023 (GRCm39) missense possibly damaging 0.76
R6364:LTO1 UTSW 7 144,473,005 (GRCm39) missense probably benign 0.00
R8716:LTO1 UTSW 7 144,468,930 (GRCm39) unclassified probably benign
Posted On 2016-08-02