Incidental Mutation 'IGL03114:Lyrm7'
ID 419302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lyrm7
Ensembl Gene ENSMUSG00000020268
Gene Name LYR motif containing 7
Synonyms 1700024C24Rik, 9330147L21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL03114
Quality Score
Status
Chromosome 11
Chromosomal Location 54717692-54751738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54741198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 45 (N45K)
Ref Sequence ENSEMBL: ENSMUSP00000118373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141703] [ENSMUST00000144164] [ENSMUST00000148070]
AlphaFold Q9DA03
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135853
Predicted Effect possibly damaging
Transcript: ENSMUST00000141703
AA Change: N45K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121259
Gene: ENSMUSG00000020268
AA Change: N45K

DomainStartEndE-ValueType
Pfam:Complex1_LYR 5 58 3.5e-13 PFAM
Pfam:Complex1_LYR_1 5 58 8.9e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144164
AA Change: N45K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120778
Gene: ENSMUSG00000020268
AA Change: N45K

DomainStartEndE-ValueType
Pfam:Complex1_LYR 5 62 1.1e-12 PFAM
Pfam:Complex1_LYR_1 5 69 1.6e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148070
AA Change: N45K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118373
Gene: ENSMUSG00000020268
AA Change: N45K

DomainStartEndE-ValueType
Pfam:Complex1_LYR 5 62 8.4e-14 PFAM
Pfam:Complex1_LYR_1 5 82 2.9e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,651,144 (GRCm39) I89F possibly damaging Het
Abca13 T A 11: 9,478,999 (GRCm39) H4282Q probably benign Het
Acta2 A G 19: 34,222,310 (GRCm39) probably null Het
Arl10 A G 13: 54,723,579 (GRCm39) probably benign Het
Avpr1a A G 10: 122,285,623 (GRCm39) Y305C probably damaging Het
Bmpr2 T A 1: 59,906,603 (GRCm39) N565K probably damaging Het
Boc A T 16: 44,307,115 (GRCm39) S1035R probably benign Het
Brd10 A T 19: 29,694,532 (GRCm39) S1654T probably benign Het
Ccdc7a T C 8: 129,753,170 (GRCm39) N187S possibly damaging Het
Cntn5 C T 9: 9,748,457 (GRCm39) E680K probably damaging Het
Copa T A 1: 171,946,835 (GRCm39) Y1014* probably null Het
Csmd3 A G 15: 47,683,847 (GRCm39) S1662P probably damaging Het
Cyp2e1 T C 7: 140,353,042 (GRCm39) F360L possibly damaging Het
Efnb3 A T 11: 69,447,628 (GRCm39) probably benign Het
Egf A T 3: 129,530,529 (GRCm39) L211Q probably damaging Het
Eno1 G A 4: 150,325,583 (GRCm39) R56H probably benign Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Git2 G A 5: 114,871,918 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,245,752 (GRCm39) probably null Het
Hyal4 A T 6: 24,755,964 (GRCm39) I61L probably benign Het
Kat14 T C 2: 144,217,885 (GRCm39) probably null Het
Kif13b T C 14: 65,025,897 (GRCm39) V1418A probably benign Het
Lcn12 T C 2: 25,383,274 (GRCm39) K35E probably benign Het
Mical2 G T 7: 111,996,764 (GRCm39) G559V probably damaging Het
Mtrr A T 13: 68,712,441 (GRCm39) C648* probably null Het
Muc5b C A 7: 141,412,556 (GRCm39) S1834* probably null Het
Mup16 G A 4: 61,436,250 (GRCm39) T101M probably benign Het
Myof A T 19: 37,892,309 (GRCm39) L1148Q probably damaging Het
Nags A T 11: 102,039,814 (GRCm39) I501F probably damaging Het
Nbeal1 A T 1: 60,317,886 (GRCm39) Y672F probably damaging Het
Ncapg2 A G 12: 116,415,993 (GRCm39) probably benign Het
Obscn A G 11: 58,891,365 (GRCm39) S7056P unknown Het
Or52s1 T C 7: 102,861,928 (GRCm39) I287T probably damaging Het
Pde2a C A 7: 101,157,890 (GRCm39) probably benign Het
Piezo2 T C 18: 63,163,343 (GRCm39) probably null Het
Pkhd1 C A 1: 20,268,395 (GRCm39) D3328Y probably damaging Het
Plxdc2 T C 2: 16,654,935 (GRCm39) V178A probably damaging Het
Prdx3 T C 19: 60,861,556 (GRCm39) probably benign Het
Prkce T A 17: 86,961,983 (GRCm39) D694E probably damaging Het
Prss1l T A 6: 41,374,012 (GRCm39) C205S probably damaging Het
Ptdss1 T A 13: 67,142,058 (GRCm39) Y405* probably null Het
Rad54l A T 4: 115,955,729 (GRCm39) W608R probably damaging Het
Rassf6 G T 5: 90,756,649 (GRCm39) probably benign Het
Sema5a A T 15: 32,673,573 (GRCm39) I804F probably damaging Het
Slc15a2 A T 16: 36,572,267 (GRCm39) I668N probably damaging Het
Thsd7b A G 1: 130,116,288 (GRCm39) E1347G probably benign Het
Tmco3 T C 8: 13,348,205 (GRCm39) probably benign Het
Ttn T C 2: 76,551,996 (GRCm39) M31214V probably null Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Ugt2b5 T C 5: 87,276,209 (GRCm39) Y355C probably damaging Het
Usp48 C A 4: 137,383,436 (GRCm39) T1031K probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn1r202 T A 13: 22,685,500 (GRCm39) probably benign Het
Vmn2r90 T C 17: 17,953,771 (GRCm39) I645T probably damaging Het
Vps18 T C 2: 119,124,132 (GRCm39) V353A possibly damaging Het
Vwf C T 6: 125,576,326 (GRCm39) Q469* probably null Het
Other mutations in Lyrm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0006:Lyrm7 UTSW 11 54,739,423 (GRCm39) missense probably benign 0.04
R1467:Lyrm7 UTSW 11 54,741,215 (GRCm39) missense probably damaging 1.00
R1467:Lyrm7 UTSW 11 54,741,215 (GRCm39) missense probably damaging 1.00
R1519:Lyrm7 UTSW 11 54,739,425 (GRCm39) missense possibly damaging 0.65
R4655:Lyrm7 UTSW 11 54,739,434 (GRCm39) missense probably damaging 1.00
R4877:Lyrm7 UTSW 11 54,731,936 (GRCm39) utr 3 prime probably benign
R8253:Lyrm7 UTSW 11 54,741,227 (GRCm39) missense probably null 1.00
Posted On 2016-08-02