Incidental Mutation 'IGL01945:Cavin1'
ID181214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cavin1
Ensembl Gene ENSMUSG00000004044
Gene Namecaveolae associated 1
SynonymsPtrf, 2310075E07Rik, cavin-1, Cavin
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01945
Quality Score
Status
Chromosome11
Chromosomal Location100956733-100970887 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100970420 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 16 (F16Y)
Ref Sequence ENSEMBL: ENSMUSP00000058321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060792]
Predicted Effect probably benign
Transcript: ENSMUST00000060792
AA Change: F16Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058321
Gene: ENSMUSG00000004044
AA Change: F16Y

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 110,083,304 probably benign Het
Acta2 A G 19: 34,251,854 V45A probably benign Het
Adam11 G A 11: 102,772,910 V305M probably damaging Het
Adcy1 A G 11: 7,161,891 K919E probably damaging Het
Afap1l1 T C 18: 61,756,863 T101A probably benign Het
Apbb2 T A 5: 66,400,251 D289V probably damaging Het
Appl1 A G 14: 26,928,655 V520A possibly damaging Het
Atp5g3 G A 2: 73,910,969 R9C probably benign Het
Atp8a2 A G 14: 60,026,160 L375P probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc185 C A 1: 182,748,876 V83L probably benign Het
Ccdc80 T A 16: 45,118,245 S772T probably damaging Het
Cntn4 T A 6: 106,437,904 V132E probably damaging Het
Coa5 A T 1: 37,429,898 C24S probably damaging Het
Col6a5 A T 9: 105,928,290 V1139D unknown Het
Ddx46 C A 13: 55,655,072 S469* probably null Het
Ep300 A G 15: 81,616,109 probably benign Het
Fcna A T 2: 25,627,835 M1K probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gstm3 T C 3: 107,967,657 E93G probably damaging Het
Gtse1 A G 15: 85,871,547 T471A probably benign Het
Hepacam2 T A 6: 3,487,117 Y4F probably benign Het
Hipk1 T C 3: 103,744,004 I1148V possibly damaging Het
Il1r2 A G 1: 40,102,453 T9A possibly damaging Het
Kl A T 5: 150,988,937 D717V probably damaging Het
Krt75 G A 15: 101,570,164 T345M possibly damaging Het
Myo5a T A 9: 75,140,671 H260Q probably damaging Het
Nckap1l G A 15: 103,461,642 G156D probably damaging Het
Nlrp1b T G 11: 71,181,407 T537P probably damaging Het
Nudt17 A G 3: 96,707,039 I201T probably damaging Het
Olfr195 T C 16: 59,149,464 S205P probably benign Het
Olfr767 A T 10: 129,079,303 I220N probably damaging Het
Olfr845 A T 9: 19,339,332 S291C probably damaging Het
Padi6 T C 4: 140,741,924 D35G probably benign Het
Plcb1 A T 2: 135,220,791 Y107F probably benign Het
Plek2 T A 12: 78,892,148 H279L probably damaging Het
Plk2 A G 13: 110,399,054 D470G possibly damaging Het
Ranbp17 T C 11: 33,328,520 T116A possibly damaging Het
Rbck1 G A 2: 152,318,316 P481L probably damaging Het
Reps1 A G 10: 18,093,836 N229S probably benign Het
Rngtt T C 4: 33,339,073 W293R probably damaging Het
Robo1 A T 16: 72,962,226 I376F probably damaging Het
Ryr2 T A 13: 11,790,363 I872F probably damaging Het
Sgip1 T C 4: 102,966,242 Y707H probably damaging Het
Slc17a5 G T 9: 78,587,932 D12E probably benign Het
Slco1a5 T A 6: 142,243,989 probably null Het
Strap A G 6: 137,741,335 I146V probably benign Het
Tcim A T 8: 24,438,876 H7Q probably benign Het
Tgfbr3 A G 5: 107,121,358 probably null Het
Thada G T 17: 84,222,766 T1725N probably benign Het
Trhr T C 15: 44,197,144 V20A probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wnt5a A G 14: 28,518,562 N223S probably damaging Het
Other mutations in Cavin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Cavin1 APN 11 100970474 start gained probably benign
R1879:Cavin1 UTSW 11 100970210 missense probably damaging 0.99
R4668:Cavin1 UTSW 11 100958796 missense probably damaging 1.00
R7226:Cavin1 UTSW 11 100970458 missense probably benign 0.07
R7410:Cavin1 UTSW 11 100958844 missense probably damaging 1.00
Z1088:Cavin1 UTSW 11 100958658 missense probably damaging 1.00
Posted On2014-05-07