Incidental Mutation 'IGL03130:Lyrm1'
ID410267
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 #IGL03130
Quality Score
Status
Chromosome7
Chromosomal Location119895861-119956963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119914180 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000146841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054440] [ENSMUST00000106516] [ENSMUST00000106517] [ENSMUST00000106518] [ENSMUST00000207270] [ENSMUST00000208202] [ENSMUST00000208424]
Predicted Effect probably damaging
Transcript: ENSMUST00000054440
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051616
Gene: ENSMUSG00000030922
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106516
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102126
Gene: ENSMUSG00000030922
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106517
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102127
Gene: ENSMUSG00000030922
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106518
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102128
Gene: ENSMUSG00000030922
AA Change: D56G

DomainStartEndE-ValueType
Pfam:Complex1_LYR 7 73 4.5e-19 PFAM
Pfam:Complex1_LYR_1 7 74 2.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207270
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208202
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208411
Predicted Effect probably damaging
Transcript: ENSMUST00000208424
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr1314 A T 2: 112,091,821 D293E probably benign Het
Olfr371 A T 8: 85,230,629 I45F possibly damaging Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rela T C 19: 5,639,881 C120R probably damaging Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Sult1c2 A T 17: 53,830,071 N274K probably benign Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Tsn C T 1: 118,305,269 A102T possibly damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Vti1a T C 19: 55,391,847 Y143H probably damaging Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Lyrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03062:Lyrm1 APN 7 119916131 splice site probably benign
IGL03338:Lyrm1 APN 7 119914246 missense probably benign 0.18
R5394:Lyrm1 UTSW 7 119914248 missense possibly damaging 0.93
R7976:Lyrm1 UTSW 7 119916226 missense probably benign 0.00
Posted On2016-08-02