Incidental Mutation 'R8253:Lyrm7'
ID640143
Institutional Source Beutler Lab
Gene Symbol Lyrm7
Ensembl Gene ENSMUSG00000020268
Gene NameLYR motif containing 7
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #R8253 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location54826866-54860916 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54850401 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 36 (I36V)
Ref Sequence ENSEMBL: ENSMUSP00000120778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141703] [ENSMUST00000144164] [ENSMUST00000148070]
Predicted Effect probably damaging
Transcript: ENSMUST00000141703
AA Change: I36V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121259
Gene: ENSMUSG00000020268
AA Change: I36V

DomainStartEndE-ValueType
Pfam:Complex1_LYR 5 58 3.5e-13 PFAM
Pfam:Complex1_LYR_1 5 58 8.9e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000144164
AA Change: I36V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120778
Gene: ENSMUSG00000020268
AA Change: I36V

DomainStartEndE-ValueType
Pfam:Complex1_LYR 5 62 1.1e-12 PFAM
Pfam:Complex1_LYR_1 5 69 1.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148070
AA Change: I36V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118373
Gene: ENSMUSG00000020268
AA Change: I36V

DomainStartEndE-ValueType
Pfam:Complex1_LYR 5 62 8.4e-14 PFAM
Pfam:Complex1_LYR_1 5 82 2.9e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,741,631 E493G probably benign Het
Akr1a1 A T 4: 116,636,643 D313E probably damaging Het
Ap1m1 T A 8: 72,252,886 V242E probably damaging Het
Atad2b T A 12: 4,974,159 S670T possibly damaging Het
Atad2b C T 12: 4,974,160 S670L probably benign Het
Avpr1b A T 1: 131,609,416 T313S probably benign Het
Cblc A G 7: 19,786,232 I362T probably damaging Het
Ccdc171 T A 4: 83,742,970 S1106T probably damaging Het
Csde1 C A 3: 103,038,721 N10K probably damaging Het
Csnk2a2 T C 8: 95,488,377 Y24C Het
Cyb5r4 G T 9: 87,059,055 L420F probably damaging Het
Cyth4 A G 15: 78,602,737 I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,760,867 probably null Het
Dner C T 1: 84,534,877 G323E probably damaging Het
Elf1 T C 14: 79,536,352 M1T probably null Het
Fam13c T C 10: 70,553,203 S520P probably damaging Het
Fam160a2 T A 7: 105,379,087 H885L possibly damaging Het
Gabra2 A G 5: 71,092,070 I30T probably benign Het
Gm6793 T A 8: 112,015,008 M1L probably benign Het
Inpp5a T C 7: 139,481,640 L76P probably damaging Het
Itih5 T C 2: 10,238,595 I381T probably benign Het
Magi2 A G 5: 20,609,307 I906V probably benign Het
Mup5 C T 4: 61,834,574 A71T probably benign Het
Ndufaf6 G A 4: 11,059,086 R248W probably damaging Het
Olfr469 A G 7: 107,822,569 I300T probably damaging Het
Olfr619 A T 7: 103,604,331 I226L possibly damaging Het
Palm A T 10: 79,807,677 K80* probably null Het
Pcyox1 C T 6: 86,389,062 R390K probably benign Het
Pdx1 T C 5: 147,270,649 probably null Het
Pifo T C 3: 105,998,367 M193V probably benign Het
Pkp2 T A 16: 16,268,542 V689D probably damaging Het
Prkar2a G T 9: 108,740,439 R232L probably damaging Het
Rasgrp4 C T 7: 29,138,862 T87M possibly damaging Het
Ryr2 T A 13: 11,827,553 Q486L possibly damaging Het
Shd T C 17: 55,976,295 V309A Het
Skint7 C T 4: 111,977,478 Q20* probably null Het
Slc35g1 C A 19: 38,402,789 T173K probably damaging Het
Slit2 T C 5: 48,275,671 F1073L probably benign Het
Snx18 T A 13: 113,594,781 D559V probably damaging Het
Tbr1 G T 2: 61,805,241 Q178H probably benign Het
Tmem145 T G 7: 25,307,514 Y114D probably damaging Het
Ttc22 T C 4: 106,638,520 L357P probably damaging Het
Uba2 T C 7: 34,150,898 M377V probably damaging Het
Vps13c T A 9: 67,943,488 Y2242* probably null Het
Xdh T G 17: 73,918,382 Q475P possibly damaging Het
Xrcc6bp1 C T 10: 126,868,674 G197S probably benign Het
Zbtb42 T G 12: 112,680,312 L307R probably damaging Het
Other mutations in Lyrm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03114:Lyrm7 APN 11 54850372 missense possibly damaging 0.69
R0006:Lyrm7 UTSW 11 54848597 missense probably benign 0.04
R1467:Lyrm7 UTSW 11 54850389 missense probably damaging 1.00
R1467:Lyrm7 UTSW 11 54850389 missense probably damaging 1.00
R1519:Lyrm7 UTSW 11 54848599 missense possibly damaging 0.65
R4655:Lyrm7 UTSW 11 54848608 missense probably damaging 1.00
R4877:Lyrm7 UTSW 11 54841110 utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- GCTGGCACCACAAAGTGATAG -3'
(R):5'- ACCGAGAAACGTGGTTACTAGTAC -3'

Sequencing Primer
(F):5'- CTGGCACCACAAAGTGATAGTTTTC -3'
(R):5'- TAGCTGGCCTCAAACTTGAAGTC -3'
Posted On2020-07-28