Incidental Mutation 'IGL03218:Letmd1'
ID 413536
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
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL03218
Quality Score
Status
Chromosome 15
Chromosomal Location 100366904-100377045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100367709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 89 (F89S)
Ref Sequence ENSEMBL: ENSMUSP00000155243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037001] [ENSMUST00000229012] [ENSMUST00000229648] [ENSMUST00000230294]
AlphaFold Q924L1
Predicted Effect probably damaging
Transcript: ENSMUST00000037001
AA Change: F89S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037546
Gene: ENSMUSG00000037353
AA Change: F89S

DomainStartEndE-ValueType
Pfam:LETM1 78 346 1.5e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180953
Predicted Effect probably damaging
Transcript: ENSMUST00000229012
AA Change: F89S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,561,727 (GRCm39) probably null Het
Acot9 T A X: 154,078,207 (GRCm39) V251E possibly damaging Het
Agtpbp1 A G 13: 59,648,021 (GRCm39) S600P possibly damaging Het
Amfr A T 8: 94,726,964 (GRCm39) M157K probably damaging Het
Arvcf T C 16: 18,222,875 (GRCm39) probably benign Het
Ascc3 T C 10: 50,699,949 (GRCm39) V1924A possibly damaging Het
Atp10a T A 7: 58,438,196 (GRCm39) probably null Het
Atp1a2 T A 1: 172,116,870 (GRCm39) E249V probably null Het
C1qc A G 4: 136,617,598 (GRCm39) L166P probably damaging Het
Col4a3 C A 1: 82,620,927 (GRCm39) probably benign Het
Def8 A G 8: 124,183,175 (GRCm39) D258G probably damaging Het
Dll1 T C 17: 15,593,830 (GRCm39) D179G probably benign Het
Dnah14 C A 1: 181,582,834 (GRCm39) H3124Q probably benign Het
Fabp5 T A 3: 10,080,023 (GRCm39) probably benign Het
Fam133b C T 5: 3,604,684 (GRCm39) Q24* probably null Het
Fam13c A C 10: 70,284,599 (GRCm39) D25A possibly damaging Het
Flna A G X: 73,278,208 (GRCm39) probably null Het
Frem1 T A 4: 82,832,883 (GRCm39) T1917S probably benign Het
Frmd4b T C 6: 97,285,075 (GRCm39) T337A probably benign Het
Fxyd7 C T 7: 30,743,995 (GRCm39) probably null Het
Galnt5 T G 2: 57,889,401 (GRCm39) S334A possibly damaging Het
Gm10220 T C 5: 26,323,696 (GRCm39) K117R probably damaging Het
Gpd2 T A 2: 57,197,066 (GRCm39) L207H probably damaging Het
H2-M10.3 T A 17: 36,678,279 (GRCm39) Y182F probably damaging Het
Itga8 T C 2: 12,115,836 (GRCm39) I1018V possibly damaging Het
Mcm3ap A G 10: 76,318,567 (GRCm39) Y696C probably damaging Het
Mcpt9 A G 14: 56,264,908 (GRCm39) Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 (GRCm39) V29A probably benign Het
Myom1 A G 17: 71,391,311 (GRCm39) D940G possibly damaging Het
Myzap A G 9: 71,462,871 (GRCm39) M225T probably benign Het
Naa25 A G 5: 121,564,133 (GRCm39) Y516C probably damaging Het
Nsdhl T A X: 72,000,052 (GRCm39) probably benign Het
Olfml1 A G 7: 107,170,476 (GRCm39) E121G possibly damaging Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Or4a72 A G 2: 89,405,935 (GRCm39) V45A probably benign Het
Or8k38 A G 2: 86,488,703 (GRCm39) I33T probably benign Het
Phex C T X: 155,961,783 (GRCm39) G636E probably damaging Het
Pkd2l2 A T 18: 34,563,373 (GRCm39) I475F probably damaging Het
Polr2b T A 5: 77,463,764 (GRCm39) S54T probably benign Het
Prkx A T X: 76,829,806 (GRCm39) L85Q probably damaging Het
Smc1b A T 15: 84,973,914 (GRCm39) I914N probably benign Het
Susd2 A G 10: 75,478,459 (GRCm39) L39P probably benign Het
Teddm2 C T 1: 153,726,770 (GRCm39) V35I probably benign Het
Tspo T A 15: 83,455,631 (GRCm39) V6E possibly damaging Het
Vps41 G T 13: 19,013,440 (GRCm39) V353F possibly damaging Het
Wfdc18 T A 11: 83,600,033 (GRCm39) probably null Het
Wsb1 C T 11: 79,139,324 (GRCm39) S124N probably damaging Het
Zfp445 T C 9: 122,686,594 (GRCm39) E177G probably benign Het
Zfp759 G T 13: 67,287,480 (GRCm39) V344L probably benign Het
Other mutations in Letmd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Letmd1 APN 15 100,369,640 (GRCm39) missense probably damaging 1.00
IGL02210:Letmd1 APN 15 100,367,128 (GRCm39) critical splice donor site probably null
IGL02486:Letmd1 APN 15 100,372,992 (GRCm39) missense probably damaging 1.00
IGL02606:Letmd1 APN 15 100,372,972 (GRCm39) missense probably damaging 1.00
lass UTSW 15 100,370,423 (GRCm39) splice site probably null
P0031:Letmd1 UTSW 15 100,370,490 (GRCm39) missense probably damaging 1.00
PIT4515001:Letmd1 UTSW 15 100,374,683 (GRCm39) missense probably damaging 1.00
R0737:Letmd1 UTSW 15 100,367,702 (GRCm39) missense probably damaging 1.00
R1466:Letmd1 UTSW 15 100,370,423 (GRCm39) splice site probably null
R1466:Letmd1 UTSW 15 100,370,423 (GRCm39) splice site probably null
R1584:Letmd1 UTSW 15 100,370,423 (GRCm39) splice site probably null
R4457:Letmd1 UTSW 15 100,373,011 (GRCm39) missense possibly damaging 0.54
R4641:Letmd1 UTSW 15 100,375,708 (GRCm39) missense probably damaging 1.00
R4724:Letmd1 UTSW 15 100,367,619 (GRCm39) missense probably damaging 1.00
R5463:Letmd1 UTSW 15 100,367,009 (GRCm39) missense probably damaging 1.00
R7407:Letmd1 UTSW 15 100,367,119 (GRCm39) missense probably benign 0.08
R8852:Letmd1 UTSW 15 100,373,247 (GRCm39) missense probably benign 0.01
Y5407:Letmd1 UTSW 15 100,373,290 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02