Incidental Mutation 'R6518:Lipt1'
ID 520839
Institutional Source Beutler Lab
Gene Symbol Lipt1
Ensembl Gene ENSMUSG00000037216
Gene Name lipoyltransferase 1
Synonyms EG623661
MMRRC Submission 044645-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6518 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 37910819-37915309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37914856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 304 (N304S)
Ref Sequence ENSEMBL: ENSMUSP00000038739 (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 benign
Transcript: ENSMUST00000041621
AA Change: N304S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: N304S

DomainStartEndE-ValueType
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

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 benign
Transcript: ENSMUST00000142670
SMART Domains Protein: ENSMUSP00000122160
Gene: ENSMUSG00000037216

DomainStartEndE-ValueType
Pfam:BPL_LplA_LipB 74 185 4.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181885
Predicted Effect probably benign
Transcript: ENSMUST00000144440
SMART Domains Protein: ENSMUSP00000115465
Gene: ENSMUSG00000037216

DomainStartEndE-ValueType
Pfam:BPL_LplA_LipB 74 185 6.6e-24 PFAM
Meta Mutation Damage Score 0.0909 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 98% (48/49)
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
4921539E11Rik T C 4: 103,123,608 (GRCm39) D88G probably damaging Het
Abcc12 A G 8: 87,235,718 (GRCm39) Het
Angptl6 T C 9: 20,786,656 (GRCm39) H330R probably damaging Het
Asxl3 T A 18: 22,649,397 (GRCm39) V462E probably damaging Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
C1ra T A 6: 124,498,534 (GRCm39) probably null Het
C2 T A 17: 35,083,094 (GRCm39) I426F probably damaging Het
C4b A T 17: 34,953,179 (GRCm39) Y1049N probably damaging Het
Cdkn1b T A 6: 134,898,283 (GRCm39) M134K probably benign Het
Cenpn A G 8: 117,663,904 (GRCm39) D145G possibly damaging Het
Ckap2 A T 8: 22,663,319 (GRCm39) I492K probably benign Het
Cog2 G A 8: 125,253,842 (GRCm39) W67* probably null Het
Col7a1 T C 9: 108,784,595 (GRCm39) F172L unknown Het
Dcaf1 T C 9: 106,712,788 (GRCm39) I112T probably damaging Het
Ddx4 T C 13: 112,741,081 (GRCm39) I518V probably benign Het
Dnah10 T C 5: 124,835,419 (GRCm39) L908P probably damaging Het
Dsg3 T C 18: 20,666,479 (GRCm39) Y563H probably benign Het
Gm16686 A C 4: 88,673,725 (GRCm39) probably benign Het
Gpr139 A T 7: 118,743,734 (GRCm39) F284I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ice1 A T 13: 70,754,428 (GRCm39) F553I possibly damaging Het
Igkv6-29 T A 6: 70,115,497 (GRCm39) Q99L probably damaging Het
Lmo1 A C 7: 108,742,783 (GRCm39) L39R probably damaging Het
Mcc T A 18: 44,794,878 (GRCm39) probably benign Het
Mindy3 T C 2: 12,386,940 (GRCm39) T74A probably damaging Het
Obi1 A T 14: 104,716,501 (GRCm39) L624H probably damaging Het
Or11a4 G T 17: 37,536,159 (GRCm39) A48S probably benign Het
Or13j1 A G 4: 43,706,334 (GRCm39) V78A probably benign Het
Or4e5 T C 14: 52,728,077 (GRCm39) I115V probably damaging Het
Ormdl1 T C 1: 53,348,116 (GRCm39) Y153H probably benign Het
Pdzrn3 A T 6: 101,127,475 (GRCm39) *1064K probably null Het
Pias1 A G 9: 62,859,142 (GRCm39) L113P probably damaging Het
Piezo2 A T 18: 63,239,342 (GRCm39) I514N probably damaging Het
Prkd1 T C 12: 50,472,278 (GRCm39) T212A probably benign Het
Rsph10b A G 5: 143,900,691 (GRCm39) Y151C probably damaging Het
Samhd1 G A 2: 156,956,217 (GRCm39) T325M possibly damaging Het
Seh1l A G 18: 67,922,519 (GRCm39) T291A probably damaging Het
Smim24 A G 10: 81,229,695 (GRCm39) M1V probably null Het
Sp140 TTTTTTTTTTTT TTTTTTTTTTTTTTTTT 1: 85,572,291 (GRCm39) probably benign Het
Spata31f1e A G 4: 42,791,750 (GRCm39) I794T probably benign Het
Speer3 T G 5: 13,845,462 (GRCm39) I165S possibly damaging Het
Timm23 A G 14: 31,923,594 (GRCm39) probably null Het
Tmem17 A T 11: 22,467,427 (GRCm39) Y75F possibly damaging Het
Tmem86b A T 7: 4,632,608 (GRCm39) C85* probably null Het
Try5 A G 6: 41,291,613 (GRCm39) F6S probably benign Het
Vmn2r71 G T 7: 85,270,436 (GRCm39) C534F probably damaging Het
Vmn2r85 A T 10: 130,265,281 (GRCm39) D67E probably benign Het
Wars2 A T 3: 99,124,116 (GRCm39) M326L probably benign Het
Wdr70 A T 15: 8,108,821 (GRCm39) S108R unknown Het
Zfp677 A G 17: 21,618,392 (GRCm39) H483R probably damaging Het
Other mutations in Lipt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Lipt1 APN 1 37,914,264 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAAACCCTGCAGATGAGACG -3'
(R):5'- AACTGCCAGTGTAGACAAAGTTG -3'

Sequencing Primer
(F):5'- ACCCTGCAGATGAGACGATGTTC -3'
(R):5'- AAGTTGTTAGGGTCACATTATCCCC -3'
Posted On 2018-06-06