Incidental Mutation 'IGL02138:Lipt1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipt1
Ensembl Gene ENSMUSG00000037216
Gene Namelipoyltransferase 1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02138
Quality Score
Chromosomal Location37871738-37876228 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37875786 bp
Amino Acid Change Glutamic Acid to Lysine at position 308 (E308K)
Ref Sequence ENSEMBL: ENSMUSP00000038739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027257] [ENSMUST00000041621] [ENSMUST00000128085] [ENSMUST00000139725] [ENSMUST00000142670] [ENSMUST00000144440]
Predicted Effect probably benign
Transcript: ENSMUST00000027257
SMART Domains Protein: ENSMUSP00000027257
Gene: ENSMUSG00000026088

MIT 8 86 4.27e-17 SMART
Pfam:MIT_C 100 242 4.3e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000041621
AA Change: E308K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: E308K

PDB:3A7U|A 31 373 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127170
Predicted Effect probably benign
Transcript: ENSMUST00000128085
SMART Domains Protein: ENSMUSP00000119243
Gene: ENSMUSG00000037216

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

MIT 8 86 4.27e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142670
SMART Domains Protein: ENSMUSP00000122160
Gene: ENSMUSG00000037216

Pfam:BPL_LplA_LipB 74 185 4.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144440
SMART Domains Protein: ENSMUSP00000115465
Gene: ENSMUSG00000037216

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,662,715 D431A possibly damaging Het
Adgrb1 T C 15: 74,529,782 M209T probably damaging Het
Ano8 T C 8: 71,484,842 H86R probably damaging Het
Camk1d G T 2: 5,445,084 Y87* probably null Het
Capza3 A G 6: 140,042,146 D157G probably benign Het
Ccdc36 G A 9: 108,406,621 T208I probably benign Het
Ckmt2 A T 13: 91,861,828 D124E probably benign Het
Col14a1 C A 15: 55,420,835 Q831K unknown Het
Copb2 C T 9: 98,587,552 P829S probably benign Het
Dlg5 A G 14: 24,158,351 V929A probably benign Het
Dolk A G 2: 30,285,979 V18A probably benign Het
Ecm2 G T 13: 49,522,828 L340F probably damaging Het
Hacl1 A G 14: 31,630,983 L149P probably benign Het
Higd2a A T 13: 54,590,422 probably null Het
Hspa12a A T 19: 58,828,298 S28R probably benign Het
Igkv5-37 A G 6: 69,963,451 Y70H probably damaging Het
Kif11 T C 19: 37,384,609 V92A probably damaging Het
Kif26a T C 12: 112,174,850 S696P probably damaging Het
Kng1 A T 16: 23,067,808 N168Y probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lepr A G 4: 101,768,067 D473G probably damaging Het
Luc7l3 A T 11: 94,303,966 F76Y probably benign Het
Mapk1 A G 16: 17,023,452 I163V probably benign Het
Matn3 A G 12: 8,967,638 E430G possibly damaging Het
Med13 A T 11: 86,286,765 S1502T probably damaging Het
Mlf1 A T 3: 67,399,713 H237L probably benign Het
Mss51 A C 14: 20,484,855 Y282* probably null Het
Ncoa3 A G 2: 166,055,262 T658A probably benign Het
Olfr406 A T 11: 74,269,718 M110L probably benign Het
Olfr867 A T 9: 20,054,900 S188T probably benign Het
Phrf1 T A 7: 141,259,283 probably benign Het
Ppme1 C T 7: 100,333,932 M335I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sntg2 T A 12: 30,307,231 probably null Het
Spryd3 T C 15: 102,118,919 probably benign Het
Srpx A G X: 10,067,423 probably null Het
St8sia1 G T 6: 142,963,778 probably benign Het
Stab1 A G 14: 31,143,513 probably null Het
Sycp2 T A 2: 178,401,990 K108* probably null Het
Sycp2 A T 2: 178,358,254 S976R probably benign Het
Tagap1 T C 17: 6,956,086 T404A probably damaging Het
Tg C T 15: 66,717,233 T21I probably benign Het
Tlr4 A T 4: 66,840,965 Y665F probably damaging Het
Tmc8 T G 11: 117,791,255 S525A probably benign Het
Tor4a A T 2: 25,194,798 D364E probably benign Het
Trim44 T C 2: 102,380,908 I236V probably benign Het
Ube2o A G 11: 116,543,400 probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Xirp2 A T 2: 67,516,956 R3180S probably benign Het
Zfp335 A G 2: 164,893,804 C1077R probably damaging Het
Other mutations in Lipt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Lipt1 APN 1 37875183 missense probably damaging 1.00
IGL03209:Lipt1 APN 1 37875069 missense probably damaging 0.99
R0811:Lipt1 UTSW 1 37875301 missense probably damaging 1.00
R0812:Lipt1 UTSW 1 37875301 missense probably damaging 1.00
R4824:Lipt1 UTSW 1 37875432 missense possibly damaging 0.59
R4833:Lipt1 UTSW 1 37875529 missense probably damaging 1.00
R6518:Lipt1 UTSW 1 37875775 missense probably benign 0.10
R7012:Lipt1 UTSW 1 37875979 missense probably benign 0.24
R7704:Lipt1 UTSW 1 37875962 nonsense probably null
R7735:Lipt1 UTSW 1 37875622 missense probably damaging 1.00
Z1176:Lipt1 UTSW 1 37875903 missense probably benign
Posted On2015-04-16