Incidental Mutation 'IGL02210:Letmd1'
ID 284690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Letmd1
Ensembl Gene ENSMUSG00000037353
Gene Name LETM1 domain containing 1
Synonyms HCCR1, 1110019O13Rik, HCCR-2
Accession Numbers

Ncbi RefSeq: NM_134093.2; MGI:1915864

Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02210
Quality Score
Status
Chromosome 15
Chromosomal Location 100469023-100479164 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 100469247 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037001] [ENSMUST00000229012] [ENSMUST00000229648] [ENSMUST00000230294]
AlphaFold Q924L1
Predicted Effect probably null
Transcript: ENSMUST00000037001
SMART Domains Protein: ENSMUSP00000037546
Gene: ENSMUSG00000037353

DomainStartEndE-ValueType
Pfam:LETM1 78 346 1.5e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180953
Predicted Effect probably benign
Transcript: ENSMUST00000229012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229596
Predicted Effect probably benign
Transcript: ENSMUST00000229648
Predicted Effect probably benign
Transcript: ENSMUST00000230294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231001
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 mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI

All alleles(7) : Targeted(2) Gene trapped(5)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,687,371 F215S probably damaging Het
Acvr2a A T 2: 48,898,526 H422L probably damaging Het
Adcy6 T C 15: 98,594,971 Y908C possibly damaging Het
Alyref A C 11: 120,597,673 S110A possibly damaging Het
Ankrd1 T C 19: 36,118,314 D86G probably damaging Het
Anpep T A 7: 79,826,904 Y29F probably benign Het
Appl1 T C 14: 26,925,952 probably benign Het
Arrdc5 T C 17: 56,300,026 D73G probably damaging Het
Atp12a T A 14: 56,371,744 Y142* probably null Het
Clec4a3 T A 6: 122,954,108 I52N probably damaging Het
Cmya5 G A 13: 93,092,734 P1949S probably benign Het
Crybb2 T A 5: 113,058,387 Q194L probably damaging Het
Dmxl2 A C 9: 54,404,049 L1796R probably damaging Het
Ecm1 A G 3: 95,735,977 F337S probably damaging Het
F5 T C 1: 164,190,141 S596P probably benign Het
Fat4 A G 3: 38,891,853 T1632A probably benign Het
Gm5070 T G 3: 95,410,625 noncoding transcript Het
Hps5 T C 7: 46,786,570 Y184C probably benign Het
Lipo5 A T 19: 33,467,877 N97K unknown Het
Mis18bp1 A T 12: 65,136,831 Y922* probably null Het
Mob3c C A 4: 115,833,755 H181N probably damaging Het
Muc4 A T 16: 32,752,254 T711S probably benign Het
Nav3 T C 10: 109,766,990 T1233A probably benign Het
Olfr1120 T A 2: 87,358,003 D186E probably damaging Het
Olfr361 G T 2: 37,085,619 T43N possibly damaging Het
Pcnt T C 10: 76,389,219 E1817G possibly damaging Het
Pdzd3 T G 9: 44,248,317 T461P probably benign Het
Phc3 A G 3: 30,936,709 V420A probably damaging Het
Plekhn1 A T 4: 156,223,649 C316S probably damaging Het
Ppp1cb T A 5: 32,483,474 probably benign Het
Slc29a4 T C 5: 142,718,779 Y359H probably damaging Het
Sspo T C 6: 48,500,492 I4982T probably damaging Het
Sstr4 T A 2: 148,396,309 L280Q probably damaging Het
Stap1 G A 5: 86,078,061 probably null Het
Szt2 A G 4: 118,389,823 V865A possibly damaging Het
Tmem246 A G 4: 49,586,686 Y161H probably benign Het
Tnr T A 1: 159,852,101 V215D probably benign Het
Trpm1 T C 7: 64,210,865 L288P probably damaging Het
Ttll5 T A 12: 85,912,545 probably benign Het
Usp8 T C 2: 126,718,056 probably benign Het
Uxs1 T C 1: 43,750,286 Y403C possibly damaging Het
Wnk2 T C 13: 49,090,869 E497G probably damaging Het
Xdh T C 17: 73,943,895 K21E probably benign Het
Other mutations in Letmd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Letmd1 APN 15 100471759 missense probably damaging 1.00
IGL02486:Letmd1 APN 15 100475111 missense probably damaging 1.00
IGL02606:Letmd1 APN 15 100475091 missense probably damaging 1.00
IGL03218:Letmd1 APN 15 100469828 missense probably damaging 1.00
lass UTSW 15 100472542 splice site probably null
P0031:Letmd1 UTSW 15 100472609 missense probably damaging 1.00
PIT4515001:Letmd1 UTSW 15 100476802 missense probably damaging 1.00
R0737:Letmd1 UTSW 15 100469821 missense probably damaging 1.00
R1466:Letmd1 UTSW 15 100472542 splice site probably null
R1466:Letmd1 UTSW 15 100472542 splice site probably null
R1584:Letmd1 UTSW 15 100472542 splice site probably null
R4457:Letmd1 UTSW 15 100475130 missense possibly damaging 0.54
R4641:Letmd1 UTSW 15 100477827 missense probably damaging 1.00
R4724:Letmd1 UTSW 15 100469738 missense probably damaging 1.00
R5463:Letmd1 UTSW 15 100469128 missense probably damaging 1.00
R7407:Letmd1 UTSW 15 100469238 missense probably benign 0.08
R8852:Letmd1 UTSW 15 100475366 missense probably benign 0.01
Y5407:Letmd1 UTSW 15 100475409 critical splice donor site probably null
Posted On 2015-04-16