Incidental Mutation 'IGL01073:Letm1'
ID 51049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Letm1
Ensembl Gene ENSMUSG00000005299
Gene Name leucine zipper-EF-hand containing transmembrane protein 1
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01073
Quality Score
Chromosome 5
Chromosomal Location 33739673-33782817 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33748800 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 424 (D424G)
Ref Sequence ENSEMBL: ENSMUSP00000005431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005431]
AlphaFold Q9Z2I0
Predicted Effect possibly damaging
Transcript: ENSMUST00000005431
AA Change: D424G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
AA Change: D424G

low complexity region 10 30 N/A INTRINSIC
low complexity region 120 135 N/A INTRINSIC
Pfam:LETM1 152 417 1.2e-111 PFAM
coiled coil region 445 493 N/A INTRINSIC
low complexity region 503 513 N/A INTRINSIC
coiled coil region 537 598 N/A INTRINSIC
SCOP:d1c7va_ 647 691 4e-3 SMART
coiled coil region 708 738 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149886
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality prior to E6.5 while ~50% of heterozygotes die before E13.5. Surviving heterozygous mice show altered glucose metabolism, impaired control of brain ATP levels, and increased susceptibility to kainic acid-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,639,322 (GRCm38) D110G possibly damaging Het
Ccnd3 A G 17: 47,594,845 (GRCm38) T104A probably benign Het
Cntnap5b A T 1: 100,076,030 (GRCm38) D245V probably benign Het
Cryab A G 9: 50,754,555 (GRCm38) K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 (GRCm38) probably benign Het
Eif2b5 A T 16: 20,500,296 (GRCm38) K99* probably null Het
Fam222b A G 11: 78,154,488 (GRCm38) I292V probably damaging Het
Itpr1 A C 6: 108,413,820 (GRCm38) N1560T probably benign Het
Lca5 T A 9: 83,395,475 (GRCm38) K605N probably damaging Het
Mtif3 C A 5: 146,958,980 (GRCm38) R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 (GRCm38) M430V probably benign Het
Olfr1226 A T 2: 89,193,137 (GRCm38) L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 (GRCm38) probably benign Het
Phf11c A T 14: 59,389,348 (GRCm38) S129T probably benign Het
Ptpro A G 6: 137,377,088 (GRCm38) N154S probably damaging Het
Rfng C T 11: 120,783,921 (GRCm38) R81H probably benign Het
Rnf38 A G 4: 44,137,645 (GRCm38) M280T probably benign Het
Rrp7a G A 15: 83,118,081 (GRCm38) A185V probably benign Het
Slc22a2 C A 17: 12,584,349 (GRCm38) F23L probably benign Het
Slc35f1 A G 10: 53,021,960 (GRCm38) T156A probably benign Het
Slfn1 A T 11: 83,121,337 (GRCm38) Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 (GRCm38) probably benign Het
Sos1 A G 17: 80,422,747 (GRCm38) F701S probably damaging Het
Tmem203 A C 2: 25,255,724 (GRCm38) I19L probably benign Het
Usp8 A T 2: 126,718,114 (GRCm38) K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 (GRCm38) R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 (GRCm38) T212P possibly damaging Het
Other mutations in Letm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Letm1 APN 5 33,762,590 (GRCm38) missense possibly damaging 0.82
IGL01882:Letm1 APN 5 33,769,665 (GRCm38) missense probably benign 0.00
IGL02186:Letm1 APN 5 33,745,047 (GRCm38) missense probably benign 0.00
IGL02699:Letm1 APN 5 33,745,148 (GRCm38) missense possibly damaging 0.93
IGL03089:Letm1 APN 5 33,760,858 (GRCm38) missense probably damaging 1.00
R0466:Letm1 UTSW 5 33,761,730 (GRCm38) splice site probably benign
R0639:Letm1 UTSW 5 33,769,426 (GRCm38) missense possibly damaging 0.88
R1370:Letm1 UTSW 5 33,778,682 (GRCm38) splice site probably null
R1415:Letm1 UTSW 5 33,769,562 (GRCm38) missense probably benign 0.06
R1511:Letm1 UTSW 5 33,752,555 (GRCm38) missense probably damaging 1.00
R1714:Letm1 UTSW 5 33,760,884 (GRCm38) missense possibly damaging 0.51
R1771:Letm1 UTSW 5 33,769,467 (GRCm38) missense probably damaging 1.00
R1990:Letm1 UTSW 5 33,769,515 (GRCm38) frame shift probably null
R1991:Letm1 UTSW 5 33,769,515 (GRCm38) frame shift probably null
R2143:Letm1 UTSW 5 33,769,515 (GRCm38) frame shift probably null
R2145:Letm1 UTSW 5 33,769,515 (GRCm38) frame shift probably null
R2202:Letm1 UTSW 5 33,769,486 (GRCm38) missense possibly damaging 0.64
R2290:Letm1 UTSW 5 33,769,515 (GRCm38) frame shift probably null
R2292:Letm1 UTSW 5 33,769,515 (GRCm38) frame shift probably null
R5574:Letm1 UTSW 5 33,769,386 (GRCm38) missense possibly damaging 0.46
R6954:Letm1 UTSW 5 33,782,507 (GRCm38) missense probably benign 0.35
R7265:Letm1 UTSW 5 33,778,648 (GRCm38) missense possibly damaging 0.62
R8713:Letm1 UTSW 5 33,762,505 (GRCm38) missense probably damaging 1.00
R9028:Letm1 UTSW 5 33,752,503 (GRCm38) missense probably damaging 1.00
R9061:Letm1 UTSW 5 33,760,869 (GRCm38) missense probably damaging 1.00
R9420:Letm1 UTSW 5 33,769,458 (GRCm38) missense probably damaging 1.00
S24628:Letm1 UTSW 5 33,747,446 (GRCm38) missense probably benign
S24628:Letm1 UTSW 5 33,747,444 (GRCm38) missense probably benign 0.00
X0066:Letm1 UTSW 5 33,762,571 (GRCm38) missense probably damaging 1.00
Posted On 2013-06-21