Incidental Mutation 'IGL01110:Cavin1'
ID 52319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cavin1
Ensembl Gene ENSMUSG00000004044
Gene Name caveolae associated 1
Synonyms 2310075E07Rik, Cavin, cavin-1, Ptrf
Accession Numbers
Essential gene? Not available question?
Stock # IGL01110
Quality Score
Status
Chromosome 11
Chromosomal Location 100847562-100861443 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 100861300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060792]
AlphaFold O54724
Predicted Effect probably benign
Transcript: ENSMUST00000060792
SMART Domains Protein: ENSMUSP00000058321
Gene: ENSMUSG00000004044

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 50 322 3.7e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132934
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs1 G A 19: 4,942,953 (GRCm39) S479L possibly damaging Het
Capn6 G T X: 142,590,246 (GRCm39) P385H probably damaging Het
Cdh9 A G 15: 16,856,012 (GRCm39) D684G possibly damaging Het
Dlgap5 A G 14: 47,631,783 (GRCm39) probably benign Het
Doc2g A G 19: 4,056,577 (GRCm39) E321G probably damaging Het
Eef1akmt1 A C 14: 57,787,247 (GRCm39) F210V probably damaging Het
Eya1 A G 1: 14,353,354 (GRCm39) S65P probably damaging Het
Gpx8 C T 13: 113,182,218 (GRCm39) V72I probably benign Het
Gria1 A G 11: 57,180,207 (GRCm39) E650G probably damaging Het
Hic1 A T 11: 75,056,345 (GRCm39) L848Q possibly damaging Het
Mmp1b C T 9: 7,384,921 (GRCm39) D243N probably benign Het
Mov10l1 G T 15: 88,905,460 (GRCm39) V872L probably benign Het
Or8g50 T C 9: 39,648,693 (GRCm39) V194A probably benign Het
Or8h9 C T 2: 86,789,265 (GRCm39) C179Y possibly damaging Het
Otof A G 5: 30,619,069 (GRCm39) F25S probably damaging Het
Patj A C 4: 98,301,261 (GRCm39) N182T probably damaging Het
Pik3r6 G A 11: 68,419,652 (GRCm39) probably null Het
Ppil6 G A 10: 41,374,406 (GRCm39) V96I probably benign Het
Sardh T A 2: 27,105,125 (GRCm39) Q666L probably benign Het
Tasp1 A G 2: 139,819,538 (GRCm39) S222P probably damaging Het
Tln2 G T 9: 67,157,864 (GRCm39) C1158* probably null Het
Zfp707 T A 15: 75,847,044 (GRCm39) C292S probably damaging Het
Zfp956 A G 6: 47,940,346 (GRCm39) E235G probably benign Het
Other mutations in Cavin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01945:Cavin1 APN 11 100,861,246 (GRCm39) missense probably benign
R1879:Cavin1 UTSW 11 100,861,036 (GRCm39) missense probably damaging 0.99
R4668:Cavin1 UTSW 11 100,849,622 (GRCm39) missense probably damaging 1.00
R7226:Cavin1 UTSW 11 100,861,284 (GRCm39) missense probably benign 0.07
R7410:Cavin1 UTSW 11 100,849,670 (GRCm39) missense probably damaging 1.00
R7986:Cavin1 UTSW 11 100,861,102 (GRCm39) missense probably damaging 1.00
R8945:Cavin1 UTSW 11 100,849,659 (GRCm39) missense probably damaging 1.00
Z1088:Cavin1 UTSW 11 100,849,484 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21