Incidental Mutation 'IGL03137:Ucp3'
ID 410601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ucp3
Ensembl Gene ENSMUSG00000032942
Gene Name uncoupling protein 3 (mitochondrial, proton carrier)
Synonyms Slc25a9, UCP-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03137
Quality Score
Status
Chromosome 7
Chromosomal Location 100122198-100135639 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 100131969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032958] [ENSMUST00000107059]
AlphaFold P56501
Predicted Effect probably benign
Transcript: ENSMUST00000032958
SMART Domains Protein: ENSMUSP00000032958
Gene: ENSMUSG00000032942

DomainStartEndE-ValueType
Pfam:Mito_carr 10 107 3.1e-20 PFAM
Pfam:Mito_carr 109 207 9.6e-26 PFAM
Pfam:Mito_carr 210 301 2.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107059
SMART Domains Protein: ENSMUSP00000102674
Gene: ENSMUSG00000032942

DomainStartEndE-ValueType
Pfam:Mito_carr 9 107 5.9e-22 PFAM
Pfam:Mito_carr 109 207 1.7e-27 PFAM
Pfam:Mito_carr 209 301 9.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133850
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous null mutants exhibit a lack of superoxide-induced uncoupling in skeletal muscle mitochondria, accompanied by increased reactive oxygen species formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankub1 T C 3: 57,597,778 (GRCm39) D64G probably damaging Het
Apobec2 C T 17: 48,730,303 (GRCm39) W121* probably null Het
Arid2 A G 15: 96,269,199 (GRCm39) N1104S probably benign Het
Bltp1 T A 3: 37,088,751 (GRCm39) M569K probably damaging Het
Brap T C 5: 121,803,156 (GRCm39) probably benign Het
Cilp A C 9: 65,185,450 (GRCm39) N515T probably benign Het
Cpeb2 T A 5: 43,419,067 (GRCm39) probably benign Het
Creb1 C T 1: 64,615,374 (GRCm39) T242I possibly damaging Het
Ddx60 T C 8: 62,441,117 (GRCm39) V1062A possibly damaging Het
Dock8 A G 19: 25,133,312 (GRCm39) E1153G probably benign Het
Gk5 A G 9: 96,058,345 (GRCm39) probably benign Het
Gm5478 G T 15: 101,552,817 (GRCm39) N60K probably benign Het
Hmcn2 T A 2: 31,252,242 (GRCm39) V904D probably damaging Het
Hnmt T A 2: 23,938,751 (GRCm39) H29L probably damaging Het
Hsf1 A G 15: 76,380,649 (GRCm39) probably benign Het
Igkv1-122 C A 6: 67,994,400 (GRCm39) T96K probably damaging Het
Iyd T C 10: 3,501,987 (GRCm39) I211T probably damaging Het
Kcnn1 G T 8: 71,303,381 (GRCm39) H34N probably damaging Het
Krtap5-3 G T 7: 141,755,946 (GRCm39) probably benign Het
Map3k19 C T 1: 127,752,052 (GRCm39) R433K probably benign Het
Mss51 A C 14: 20,537,200 (GRCm39) C89W probably damaging Het
Myh9 A T 15: 77,675,289 (GRCm39) I276N probably damaging Het
Myof T C 19: 37,963,337 (GRCm39) E420G probably damaging Het
Nfatc2ip C A 7: 125,989,740 (GRCm39) V215L possibly damaging Het
Or10ag52 A T 2: 87,043,500 (GRCm39) Y88F probably benign Het
Or51m1 T C 7: 103,578,801 (GRCm39) M257T probably benign Het
Or5d18 G A 2: 87,864,754 (GRCm39) A243V probably benign Het
Pcdhb4 T C 18: 37,441,569 (GRCm39) I293T probably damaging Het
Pdcd6ip A G 9: 113,486,213 (GRCm39) S729P possibly damaging Het
Pick1 C A 15: 79,129,501 (GRCm39) H169N possibly damaging Het
Ppp4r4 A C 12: 103,547,643 (GRCm39) K212T probably damaging Het
Racgap1 A G 15: 99,526,622 (GRCm39) S314P probably damaging Het
Rasef C A 4: 73,652,720 (GRCm39) E594* probably null Het
Ryr3 T G 2: 112,740,742 (GRCm39) K522Q probably benign Het
Shoc1 G T 4: 59,094,162 (GRCm39) F187L probably benign Het
Six5 T C 7: 18,831,072 (GRCm39) probably benign Het
Slc26a9 G T 1: 131,691,615 (GRCm39) E619D probably benign Het
Sqor A G 2: 122,649,991 (GRCm39) I412V probably benign Het
Srrt T A 5: 137,294,379 (GRCm39) probably benign Het
Sult1e1 C T 5: 87,726,475 (GRCm39) R213K probably benign Het
Tmc2 T A 2: 130,082,050 (GRCm39) L411H probably damaging Het
Tmem63b T A 17: 45,975,921 (GRCm39) N511Y probably damaging Het
Vmn1r201 A T 13: 22,658,974 (GRCm39) I63F probably benign Het
Vps13c G T 9: 67,797,662 (GRCm39) L522F probably damaging Het
Wwp1 T A 4: 19,678,408 (GRCm39) T3S probably damaging Het
Zc3hav1 A G 6: 38,309,329 (GRCm39) S498P probably benign Het
Other mutations in Ucp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Ucp3 APN 7 100,129,766 (GRCm39) missense probably damaging 1.00
IGL02883:Ucp3 APN 7 100,129,849 (GRCm39) missense probably benign 0.00
PIT4576001:Ucp3 UTSW 7 100,129,458 (GRCm39) missense probably benign 0.04
R0023:Ucp3 UTSW 7 100,134,250 (GRCm39) missense probably benign 0.00
R0023:Ucp3 UTSW 7 100,134,250 (GRCm39) missense probably benign 0.00
R0532:Ucp3 UTSW 7 100,131,186 (GRCm39) splice site probably benign
R0616:Ucp3 UTSW 7 100,129,368 (GRCm39) missense probably benign 0.00
R0833:Ucp3 UTSW 7 100,128,748 (GRCm39) nonsense probably null
R1739:Ucp3 UTSW 7 100,131,927 (GRCm39) missense probably benign 0.01
R1939:Ucp3 UTSW 7 100,129,871 (GRCm39) missense probably benign 0.00
R3861:Ucp3 UTSW 7 100,129,458 (GRCm39) missense probably benign 0.04
R3958:Ucp3 UTSW 7 100,131,946 (GRCm39) missense probably benign 0.00
R3959:Ucp3 UTSW 7 100,131,946 (GRCm39) missense probably benign 0.00
R4059:Ucp3 UTSW 7 100,131,871 (GRCm39) missense probably damaging 0.99
R5535:Ucp3 UTSW 7 100,129,873 (GRCm39) missense probably benign 0.45
R6463:Ucp3 UTSW 7 100,129,476 (GRCm39) missense probably benign 0.00
R6596:Ucp3 UTSW 7 100,131,140 (GRCm39) missense probably benign 0.01
R7517:Ucp3 UTSW 7 100,131,089 (GRCm39) missense probably damaging 1.00
R7693:Ucp3 UTSW 7 100,131,799 (GRCm39) missense probably benign 0.00
R9487:Ucp3 UTSW 7 100,131,123 (GRCm39) missense probably damaging 1.00
R9493:Ucp3 UTSW 7 100,131,911 (GRCm39) missense probably benign 0.00
Z1177:Ucp3 UTSW 7 100,129,799 (GRCm39) missense possibly damaging 0.55
Posted On 2016-08-02