Incidental Mutation 'IGL03062:Lyrm1'
ID 409530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lyrm1
Ensembl Gene ENSMUSG00000030922
Gene Name LYR motif containing 1
Synonyms 2310004B22Rik, 1110065L10Rik, 4930404J24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # IGL03062
Quality Score
Status
Chromosome 7
Chromosomal Location 119495038-119515979 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 119515354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054440] [ENSMUST00000106516] [ENSMUST00000106517] [ENSMUST00000106518] [ENSMUST00000207270] [ENSMUST00000208202] [ENSMUST00000208424]
AlphaFold Q9CQB7
Predicted Effect probably benign
Transcript: ENSMUST00000054440
SMART Domains Protein: ENSMUSP00000051616
Gene: ENSMUSG00000030922

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106516
SMART Domains Protein: ENSMUSP00000102126
Gene: ENSMUSG00000030922

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106517
SMART Domains Protein: ENSMUSP00000102127
Gene: ENSMUSG00000030922

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106518
SMART Domains Protein: ENSMUSP00000102128
Gene: ENSMUSG00000030922

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207270
Predicted Effect probably benign
Transcript: ENSMUST00000208202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208411
Predicted Effect probably benign
Transcript: ENSMUST00000208424
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the mitochondrial leucine/tyrosine/arginine motif family of proteins. Proteins of this family are short polypeptides that contain a leucine/tyrosine/arginine motif near the N-terminus. This gene is widely expressed with high levels in omental adipose tissue of obese individuals. In adipose tissue, the protein is localized to the nucleus where it promotes preadipocyte proliferation and lowers the rate of apoptosis to regulate adipose tissue homeostasis. Overexpression of this gene in adipocytes causes abnormal mitochondrial morphology and mitochondrial dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Efhd1 T C 1: 87,192,406 (GRCm39) F79L possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Med28 G A 5: 45,679,811 (GRCm39) V65I probably damaging Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sars2 T A 7: 28,446,206 (GRCm39) I145N possibly damaging Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Socs6 A T 18: 88,887,970 (GRCm39) M315K probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y probably damaging Het
Other mutations in Lyrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Lyrm1 APN 7 119,513,403 (GRCm39) missense probably damaging 1.00
IGL03338:Lyrm1 APN 7 119,513,469 (GRCm39) missense probably benign 0.18
R5394:Lyrm1 UTSW 7 119,513,471 (GRCm39) missense possibly damaging 0.93
R7976:Lyrm1 UTSW 7 119,515,449 (GRCm39) missense probably benign 0.00
R9505:Lyrm1 UTSW 7 119,509,090 (GRCm39) missense possibly damaging 0.47
Posted On 2016-08-02