Incidental Mutation 'IGL03062:Lyrm1'
ID409530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lyrm1
Ensembl Gene ENSMUSG00000030922
Gene NameLYR motif containing 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.330) question?
Stock #IGL03062
Quality Score
Status
Chromosome7
Chromosomal Location119895861-119956963 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 119916131 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054440] [ENSMUST00000106516] [ENSMUST00000106517] [ENSMUST00000106518] [ENSMUST00000207270] [ENSMUST00000208202] [ENSMUST00000208424]
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
4932438A13Rik T C 3: 37,038,517 probably benign Het
Abcb10 C T 8: 123,954,315 R714Q possibly damaging Het
Abcb5 T A 12: 118,936,087 I282L probably benign Het
Aox1 A T 1: 58,078,465 E835D probably benign Het
Arhgap17 C T 7: 123,321,874 probably null Het
Calcr C T 6: 3,693,718 V359I probably benign Het
Chd9 T A 8: 91,015,267 probably benign Het
Col28a1 T C 6: 8,017,029 probably benign Het
Dnajc11 A G 4: 151,970,861 E171G possibly damaging Het
Efhd1 T C 1: 87,264,684 F79L possibly damaging Het
Fam83a A T 15: 57,993,077 probably null Het
Fam98a A G 17: 75,540,105 probably benign Het
Ficd A G 5: 113,738,253 Y163C probably damaging Het
Filip1l T C 16: 57,506,804 S66P probably damaging Het
Fmo5 A G 3: 97,635,593 Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 R574S possibly damaging Het
Klc3 C A 7: 19,395,062 G461W probably damaging Het
Lmo7 A T 14: 101,912,079 T973S possibly damaging Het
Loxl1 C A 9: 58,311,910 G326V possibly damaging Het
Lrrc24 A G 15: 76,718,304 V127A probably benign Het
Med28 G A 5: 45,522,469 V65I probably damaging Het
Mgat4c T C 10: 102,388,461 Y179H probably damaging Het
Micall1 A C 15: 79,114,681 N58T probably damaging Het
Ncoa4 T A 14: 32,173,420 M72K possibly damaging Het
Nutm1 T C 2: 112,248,933 Q879R probably benign Het
Olfr1428 C T 19: 12,109,148 V133I probably benign Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Olfr965 T A 9: 39,720,035 D269E probably benign Het
Phf11b T C 14: 59,324,924 I177M probably damaging Het
Pin1rt1 T G 2: 104,714,707 I27L probably benign Het
Plxna2 T C 1: 194,762,550 V750A possibly damaging Het
Pou5f1 A T 17: 35,510,039 N126I possibly damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rnf43 G T 11: 87,732,304 G744* probably null Het
Rsbn1 C A 3: 103,953,629 probably benign Het
Sars2 T A 7: 28,746,781 I145N possibly damaging Het
Sh3tc2 A T 18: 62,011,880 E1135V probably damaging Het
Shroom1 A G 11: 53,463,379 D42G probably benign Het
Sidt2 A G 9: 45,942,683 probably null Het
Slc39a8 T C 3: 135,886,797 probably benign Het
Slc9c1 T C 16: 45,599,758 S1059P probably benign Het
Socs6 A T 18: 88,869,846 M315K probably benign Het
Soga3 T A 10: 29,198,949 F911Y probably damaging Het
Speer2 T C 16: 69,857,977 E200G probably damaging Het
Sult2a5 T A 7: 13,624,182 probably null Het
Tmbim1 A T 1: 74,291,699 I168N possibly damaging Het
Trim38 T C 13: 23,782,963 V131A probably damaging Het
Ube2o A G 11: 116,541,642 S833P probably damaging Het
Uggt2 T C 14: 119,075,346 I350M probably damaging Het
Unc80 A G 1: 66,509,489 D640G probably damaging Het
Vmn2r13 A G 5: 109,156,282 F761S probably damaging Het
Vmn2r54 C T 7: 12,632,428 C193Y probably damaging Het
Other mutations in Lyrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Lyrm1 APN 7 119914180 missense probably damaging 1.00
IGL03338:Lyrm1 APN 7 119914246 missense probably benign 0.18
R5394:Lyrm1 UTSW 7 119914248 missense possibly damaging 0.93
Posted On2016-08-02