Incidental Mutation 'IGL01016:Lipt1'
ID 53401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipt1
Ensembl Gene ENSMUSG00000037216
Gene Name lipoyltransferase 1
Synonyms EG623661
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01016
Quality Score
Status
Chromosome 1
Chromosomal Location 37910819-37915309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37914264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 107 (Y107H)
Ref Sequence ENSEMBL: ENSMUSP00000115465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027257] [ENSMUST00000041621] [ENSMUST00000128085] [ENSMUST00000139725] [ENSMUST00000142670] [ENSMUST00000144440]
AlphaFold Q8VCM4
Predicted Effect probably benign
Transcript: ENSMUST00000027257
SMART Domains Protein: ENSMUSP00000027257
Gene: ENSMUSG00000026088

DomainStartEndE-ValueType
MIT 8 86 4.27e-17 SMART
Pfam:MIT_C 100 242 4.3e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041621
AA Change: Y107H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: Y107H

DomainStartEndE-ValueType
PDB:3A7U|A 31 373 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127170
Predicted Effect probably damaging
Transcript: ENSMUST00000128085
AA Change: Y107H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119243
Gene: ENSMUSG00000037216
AA Change: Y107H

DomainStartEndE-ValueType
Pfam:BPL_LplA_LipB 74 159 1.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131754
Predicted Effect probably benign
Transcript: ENSMUST00000139725
SMART Domains Protein: ENSMUSP00000123009
Gene: ENSMUSG00000026088

DomainStartEndE-ValueType
MIT 8 86 4.27e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000142670
AA Change: Y107H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122160
Gene: ENSMUSG00000037216
AA Change: Y107H

DomainStartEndE-ValueType
Pfam:BPL_LplA_LipB 74 185 4.5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144440
AA Change: Y107H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115465
Gene: ENSMUSG00000037216
AA Change: Y107H

DomainStartEndE-ValueType
Pfam:BPL_LplA_LipB 74 185 6.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181885
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh20 G A 1: 110,036,686 (GRCm39) probably null Het
Dennd1c T C 17: 57,373,839 (GRCm39) I575V probably damaging Het
Focad G A 4: 88,310,252 (GRCm39) V1394I possibly damaging Het
Gldc G A 19: 30,110,893 (GRCm39) S570F possibly damaging Het
Gm12695 T A 4: 96,646,184 (GRCm39) Y286F probably benign Het
Grid1 C T 14: 34,544,596 (GRCm39) Q56* probably null Het
Il7r A T 15: 9,510,294 (GRCm39) V253E probably damaging Het
Iqgap3 T C 3: 88,014,867 (GRCm39) L861P probably damaging Het
Kcnc3 C T 7: 44,244,810 (GRCm39) R367W probably damaging Het
Mep1a T C 17: 43,789,975 (GRCm39) E445G probably benign Het
Mpo A G 11: 87,688,436 (GRCm39) probably null Het
Nme5 T C 18: 34,711,712 (GRCm39) probably null Het
Or52n2 A T 7: 104,542,243 (GRCm39) N197K probably damaging Het
Or8b54 T A 9: 38,686,737 (GRCm39) F62Y probably damaging Het
Or8s8 T A 15: 98,354,186 (GRCm39) probably benign Het
Papolg A T 11: 23,835,570 (GRCm39) N83K possibly damaging Het
Picalm A T 7: 89,810,526 (GRCm39) D111V probably damaging Het
Ppargc1a T A 5: 51,655,373 (GRCm39) probably null Het
Rnh1 G T 7: 140,744,409 (GRCm39) probably benign Het
Rpgrip1 T C 14: 52,383,293 (GRCm39) Y576H probably damaging Het
Sobp T A 10: 42,898,874 (GRCm39) Y237F probably damaging Het
Spink5 T C 18: 44,140,711 (GRCm39) Y637H probably damaging Het
St18 G T 1: 6,914,547 (GRCm39) G797V probably damaging Het
Tbx20 T C 9: 24,661,617 (GRCm39) D293G probably damaging Het
Tcl1b1 A T 12: 105,130,663 (GRCm39) R49* probably null Het
Tnfsf13b A G 8: 10,081,612 (GRCm39) Q258R probably damaging Het
Vmn1r223 A T 13: 23,434,237 (GRCm39) Y277F probably damaging Het
Wdr62 T C 7: 29,953,676 (GRCm39) T146A probably benign Het
Zfp236 G A 18: 82,686,815 (GRCm39) A241V probably benign Het
Zfp318 T C 17: 46,711,003 (GRCm39) S909P probably damaging Het
Other mutations in Lipt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Lipt1 APN 1 37,914,867 (GRCm39) missense possibly damaging 0.81
IGL03209:Lipt1 APN 1 37,914,150 (GRCm39) missense probably damaging 0.99
R0811:Lipt1 UTSW 1 37,914,382 (GRCm39) missense probably damaging 1.00
R0812:Lipt1 UTSW 1 37,914,382 (GRCm39) missense probably damaging 1.00
R4824:Lipt1 UTSW 1 37,914,513 (GRCm39) missense possibly damaging 0.59
R4833:Lipt1 UTSW 1 37,914,610 (GRCm39) missense probably damaging 1.00
R6518:Lipt1 UTSW 1 37,914,856 (GRCm39) missense probably benign 0.10
R7012:Lipt1 UTSW 1 37,915,060 (GRCm39) missense probably benign 0.24
R7704:Lipt1 UTSW 1 37,915,043 (GRCm39) nonsense probably null
R7735:Lipt1 UTSW 1 37,914,703 (GRCm39) missense probably damaging 1.00
R8220:Lipt1 UTSW 1 37,914,706 (GRCm39) missense probably damaging 0.98
R9523:Lipt1 UTSW 1 37,914,534 (GRCm39) missense probably damaging 1.00
Z1176:Lipt1 UTSW 1 37,914,984 (GRCm39) missense probably benign
Posted On 2013-06-28