Incidental Mutation 'IGL00225:LTO1'
ID 2323
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 # IGL00225
Quality Score
Status
Chromosome 7
Chromosomal Location 144468837-144485438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144471405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 86 (G86D)
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 probably benign
Transcript: ENSMUST00000033388
AA Change: G86D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033388
Gene: ENSMUSG00000031072
AA Change: G86D

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 2.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093964
Predicted Effect probably benign
Transcript: ENSMUST00000105895
AA Change: G86D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101515
Gene: ENSMUSG00000031072
AA Change: G86D

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 2e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128057
AA Change: G86D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115840
Gene: ENSMUSG00000031072
AA Change: G86D

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 unknown
Transcript: ENSMUST00000207453
AA Change: G2D
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227063
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,614,241 (GRCm39) N93D probably benign Het
Gm8356 T C 14: 17,693,287 (GRCm39) K24E probably damaging Het
Hars1 G A 18: 36,901,225 (GRCm39) T409M probably damaging Het
Ivns1abp A G 1: 151,226,863 (GRCm39) probably null Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kdm4c T G 4: 74,263,804 (GRCm39) V696G probably benign Het
Klrb1f T A 6: 129,030,138 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,371 (GRCm39) V1399I probably benign Het
Mki67 A G 7: 135,291,849 (GRCm39) V3168A probably benign Het
Nf1 T A 11: 79,286,731 (GRCm39) I177K probably damaging Het
Nnt A T 13: 119,506,533 (GRCm39) N371K probably damaging Het
Or13a27 A G 7: 139,925,123 (GRCm39) Y260H probably damaging Het
Or5p52 C T 7: 107,502,311 (GRCm39) P129L probably damaging Het
Prkdc G T 16: 15,627,508 (GRCm39) V3389L possibly damaging Het
Prr16 T A 18: 51,436,192 (GRCm39) Y224N possibly damaging Het
Ptgs1 G A 2: 36,127,231 (GRCm39) C39Y probably damaging Het
Sla T C 15: 66,654,479 (GRCm39) D269G possibly damaging Het
Stk38l T A 6: 146,659,971 (GRCm39) M1K probably null Het
Trim24 T A 6: 37,880,583 (GRCm39) N160K possibly damaging Het
Zfp451 A G 1: 33,825,621 (GRCm39) probably benign Het
Other mutations in LTO1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:LTO1 APN 7 144,470,220 (GRCm39) missense probably damaging 0.99
IGL03130:LTO1 APN 7 144,470,197 (GRCm39) missense probably damaging 1.00
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 2011-12-09