Incidental Mutation 'RF042:Opa3'
ID604872
Institutional Source Beutler Lab
Gene Symbol Opa3
Ensembl Gene ENSMUSG00000052214
Gene Nameoptic atrophy 3
SynonymsLOC243868, D630048P19Rik, LOC384570
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #RF042 (G1)
Quality Score106.585
Status Not validated
Chromosome7
Chromosomal Location19228334-19256543 bp(+) (GRCm38)
Type of Mutationsmall insertion (12 aa in frame mutation)
DNA Base Change (assembly) GCGGGC to GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC at 19255669 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032561] [ENSMUST00000161711]
Predicted Effect probably benign
Transcript: ENSMUST00000032561
SMART Domains Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403

DomainStartEndE-ValueType
WH1 1 110 1.14e-46 SMART
low complexity region 155 183 N/A INTRINSIC
low complexity region 185 229 N/A INTRINSIC
Pfam:VASP_tetra 336 372 6.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161711
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AAAGGAAAAGGTGGCCAG AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG 6: 131,552,886 probably benign Het
A030005L19Rik GCTGCTG GCTGCTGTGACTGCTG 1: 82,913,584 probably benign Het
AI837181 GGC GGCTGC 19: 5,425,217 probably benign Het
AI837181 CG CGGTG 19: 5,425,237 probably benign Het
Anapc2 GCGGCGGCGGCGAC GC 2: 25,272,561 probably benign Het
Cgnl1 AGCG AGCGGCG 9: 71,724,715 probably benign Het
Cntnap1 TTT TTTTGTT 11: 101,180,305 probably benign Het
Cul9 TTCTC TTC 17: 46,540,615 probably null Het
Dnmt1 GGGGCGGAGCACAGTTCCTACCTCGTT GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT 9: 20,910,119 probably null Het
Frem3 GATC GATCATC 8: 80,615,238 probably benign Het
Gab3 TCT TCTACT X: 75,000,005 probably benign Het
Gab3 TTC TTCGTC X: 75,000,022 probably benign Het
Gabre GGCTCC GGCTCCTGCTCC X: 72,270,047 probably benign Het
Gm8369 TGTG TGTGAGTG 19: 11,511,773 probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,511,778 probably benign Het
Gykl1 G A 18: 52,694,416 R232Q probably benign Het
Igkv12-89 G GCAACGCCAT 6: 68,835,286 probably benign Het
Iqcf4 TCCTTTTCCTTTTCCTTTT TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT 9: 106,570,605 probably benign Het
Kmt2e TTT TTTTCTT 5: 23,478,509 probably benign Het
Krtap28-10 CCACAG CCACAGACACAG 1: 83,042,125 probably benign Het
Las1l CTTCCT CTTCCTTTTCCT X: 95,940,620 probably benign Het
Lca5l GCCCTGGCCCTGGCCCC GCCC 16: 96,159,297 probably null Het
Lce1m CACTGCTGCTGC CACTGCTGCTGCAACTGCTGCTGC 3: 93,018,139 probably benign Het
Lypd8 CA CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA 11: 58,390,243 probably benign Het
Mamld1 GCAACA GCAACAACA X: 71,118,812 probably benign Het
Mamld1 A AGCC X: 71,118,853 probably benign Het
Map1a T TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC 2: 121,306,287 probably benign Het
Med12l GCAACA GCAACAACA 3: 59,275,956 probably benign Het
Med12l AGC AGCGGC 3: 59,275,967 probably benign Het
Med12l CAG CAGAAG 3: 59,275,981 probably benign Het
Med12l GC GCATC 3: 59,275,995 probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,076,111 probably null Het
Nusap1 GAGA GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA 2: 119,627,607 probably null Het
Pdia4 CTCTTCCTCCT C 6: 47,808,306 probably null Het
Reep1 CGCCA CGCCAGCCA 6: 71,707,966 probably null Het
Sbp AAGA AAGACGCTGACAACAGAGA 17: 23,945,384 probably benign Het
Sfswap CTCGGCCCA CTCGGCCCAGTCGGCCCA 5: 129,569,743 probably benign Het
Slc39a4 TC TCATCATGATCACCATGGTCACCATGATCACTGTGGCC 15: 76,614,871 probably benign Het
Srpk2 ATCCT AT 5: 23,525,575 probably benign Het
Tfeb GCA GCACCA 17: 47,786,097 probably benign Het
Tgoln1 T TCACCTCCCGTGGGCTTGCCAGAAG 6: 72,616,074 probably benign Het
Tob1 CACA CACAACA 11: 94,214,451 probably benign Het
Trappc9 A AGCTGCTGCTGCTGCT 15: 72,801,283 probably benign Het
Tsen2 GGA GGATGA 6: 115,560,067 probably benign Het
Zfhx3 GC GCCACAGCAAC 8: 108,956,088 probably benign Het
Zfhx3 CAGCAGCA CAGCAGCAAAAGCAGCA 8: 108,956,098 probably benign Het
Other mutations in Opa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Opa3 APN 7 19228582 missense probably damaging 1.00
R0781:Opa3 UTSW 7 19228599 splice site probably benign
R1777:Opa3 UTSW 7 19244912 missense probably damaging 1.00
R2068:Opa3 UTSW 7 19244814 missense possibly damaging 0.72
R4373:Opa3 UTSW 7 19244774 missense probably damaging 1.00
R5236:Opa3 UTSW 7 19244757 missense probably damaging 1.00
R7051:Opa3 UTSW 7 19245036 missense possibly damaging 0.91
R7650:Opa3 UTSW 7 19244971 missense probably benign 0.00
R8068:Opa3 UTSW 7 19244985 missense probably damaging 1.00
R8314:Opa3 UTSW 7 19245015 missense possibly damaging 0.62
Z1177:Opa3 UTSW 7 19244816 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAAGCCATCATCTTTGCTG -3'
(R):5'- GTCATGTGACAAGCCCAGAC -3'

Sequencing Primer
(F):5'- CATCATCTTTGCTGCTGCGGG -3'
(R):5'- ACGTCCAAGGCCAGAGTC -3'
Posted On2019-12-04