Incidental Mutation 'S24628:Letm1'
ID 385651
Institutional Source Beutler Lab
Gene Symbol Letm1
Ensembl Gene ENSMUSG00000005299
Gene Name leucine zipper-EF-hand containing transmembrane protein 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # S24628 () of strain waterfowl
Quality Score 201
Status Not validated
Chromosome 5
Chromosomal Location 33897017-33940061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33904788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 513 (P513S)
Ref Sequence ENSEMBL: ENSMUSP00000005431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005431]
AlphaFold Q9Z2I0
Predicted Effect probably benign
Transcript: ENSMUST00000005431
AA Change: P513S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
AA Change: P513S

DomainStartEndE-ValueType
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
  • 1x: 98.1%
  • 3x: 97.0%
  • 10x: 94.3%
  • 20x: 88.0%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 G A 17: 56,159,288 (GRCm39) V658I probably benign Het
Ccdc40 T C 11: 119,122,944 (GRCm39) Y249H possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Homo
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gpr183 C A 14: 122,191,888 (GRCm39) C211F probably damaging Homo
Lcp1 A T 14: 75,464,446 (GRCm39) I556F possibly damaging Het
Msh3 A G 13: 92,483,294 (GRCm39) V283A possibly damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Npr3 C A 15: 11,848,649 (GRCm39) M439I probably benign Het
Or5m10 A T 2: 85,717,782 (GRCm39) I213F possibly damaging Het
Or5m9 A T 2: 85,877,399 (GRCm39) H191L probably benign Het
Pax5 G A 4: 44,691,886 (GRCm39) A120V probably damaging Het
Plcb1 A G 2: 135,179,419 (GRCm39) Y609C probably damaging Het
Plxna1 G A 6: 89,334,318 (GRCm39) H104Y probably benign Homo
Rnf213 A T 11: 119,305,295 (GRCm39) I509F probably damaging Het
Ryr2 T C 13: 11,884,042 (GRCm39) S213G probably damaging Homo
Spint1 A G 2: 119,076,096 (GRCm39) T231A probably damaging Het
Tbcel C A 9: 42,355,796 (GRCm39) C139F probably benign Het
Thbs2 A C 17: 14,900,235 (GRCm39) S573A probably benign Het
Tmem43 C A 6: 91,459,300 (GRCm39) P257Q probably benign Homo
Tmprss13 A G 9: 45,248,430 (GRCm39) probably null Het
Tnc C T 4: 63,936,249 (GRCm39) G229D probably damaging Homo
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn1r196 T A 13: 22,478,006 (GRCm39) V215D probably damaging Homo
Vmn1r22 G T 6: 57,877,317 (GRCm39) T220K probably benign Homo
Vmn2r116 G A 17: 23,606,253 (GRCm39) M388I possibly damaging Het
Zap70 A G 1: 36,809,892 (GRCm39) M1V probably null Homo
Zfp282 A G 6: 47,874,815 (GRCm39) D340G probably damaging Homo
Zfp282 T A 6: 47,881,987 (GRCm39) I558N possibly damaging Homo
Other mutations in Letm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Letm1 APN 5 33,919,934 (GRCm39) missense possibly damaging 0.82
IGL01073:Letm1 APN 5 33,906,144 (GRCm39) missense possibly damaging 0.89
IGL01882:Letm1 APN 5 33,927,009 (GRCm39) missense probably benign 0.00
IGL02186:Letm1 APN 5 33,902,391 (GRCm39) missense probably benign 0.00
IGL02699:Letm1 APN 5 33,902,492 (GRCm39) missense possibly damaging 0.93
IGL03089:Letm1 APN 5 33,918,202 (GRCm39) missense probably damaging 1.00
R0466:Letm1 UTSW 5 33,919,074 (GRCm39) splice site probably benign
R0639:Letm1 UTSW 5 33,926,770 (GRCm39) missense possibly damaging 0.88
R1370:Letm1 UTSW 5 33,936,026 (GRCm39) splice site probably null
R1415:Letm1 UTSW 5 33,926,906 (GRCm39) missense probably benign 0.06
R1511:Letm1 UTSW 5 33,909,899 (GRCm39) missense probably damaging 1.00
R1714:Letm1 UTSW 5 33,918,228 (GRCm39) missense possibly damaging 0.51
R1771:Letm1 UTSW 5 33,926,811 (GRCm39) missense probably damaging 1.00
R1990:Letm1 UTSW 5 33,926,859 (GRCm39) frame shift probably null
R1991:Letm1 UTSW 5 33,926,859 (GRCm39) frame shift probably null
R2143:Letm1 UTSW 5 33,926,859 (GRCm39) frame shift probably null
R2145:Letm1 UTSW 5 33,926,859 (GRCm39) frame shift probably null
R2202:Letm1 UTSW 5 33,926,830 (GRCm39) missense possibly damaging 0.64
R2290:Letm1 UTSW 5 33,926,859 (GRCm39) frame shift probably null
R2292:Letm1 UTSW 5 33,926,859 (GRCm39) frame shift probably null
R5574:Letm1 UTSW 5 33,926,730 (GRCm39) missense possibly damaging 0.46
R6954:Letm1 UTSW 5 33,939,851 (GRCm39) missense probably benign 0.35
R7265:Letm1 UTSW 5 33,935,992 (GRCm39) missense possibly damaging 0.62
R8713:Letm1 UTSW 5 33,919,849 (GRCm39) missense probably damaging 1.00
R9028:Letm1 UTSW 5 33,909,847 (GRCm39) missense probably damaging 1.00
R9061:Letm1 UTSW 5 33,918,213 (GRCm39) missense probably damaging 1.00
R9420:Letm1 UTSW 5 33,926,802 (GRCm39) missense probably damaging 1.00
S24628:Letm1 UTSW 5 33,904,790 (GRCm39) missense probably benign
X0066:Letm1 UTSW 5 33,919,915 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCAACCCTGGATGAAGG -3'
(R):5'- TCACTGCAGAGTATTCCAAGTG -3'

Sequencing Primer
(F):5'- TCACTGTGTAAACCAGGCTG -3'
(R):5'- CTGCAGAGTATTCCAAGTGTGACC -3'
Posted On 2016-05-10