Incidental Mutation 'R6808:Cacybp'
ID 533643
Institutional Source Beutler Lab
Gene Symbol Cacybp
Ensembl Gene ENSMUSG00000014226
Gene Name calcyclin binding protein
Synonyms
MMRRC Submission 044921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6808 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 160029937-160040445 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 160036169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014370] [ENSMUST00000195654]
AlphaFold Q9CXW3
Predicted Effect probably null
Transcript: ENSMUST00000014370
SMART Domains Protein: ENSMUSP00000014370
Gene: ENSMUSG00000014226

DomainStartEndE-ValueType
Pfam:Siah-Interact_N 3 76 2.1e-30 PFAM
Pfam:CS 77 157 3.7e-19 PFAM
Pfam:SGS 162 222 6.1e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000195654
SMART Domains Protein: ENSMUSP00000142252
Gene: ENSMUSG00000014226

DomainStartEndE-ValueType
Pfam:Siah-Interact_N 1 76 5.6e-24 PFAM
Pfam:CS 74 135 5.4e-9 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced thymus and spleen cellularity, and defects in TCR-rearrangement. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A T 17: 33,652,098 (GRCm39) I53F probably damaging Het
Apol7b T A 15: 77,308,873 (GRCm39) D75V probably damaging Het
Brd8 C T 18: 34,741,528 (GRCm39) A387T probably damaging Het
Calcoco1 T C 15: 102,618,875 (GRCm39) K444E probably damaging Het
Cers2 G A 3: 95,228,320 (GRCm39) R120H probably benign Het
Chd4 T A 6: 125,099,086 (GRCm39) C1587S possibly damaging Het
Col11a1 A T 3: 113,888,593 (GRCm39) K286N possibly damaging Het
Creld2 A G 15: 88,709,413 (GRCm39) N308S probably damaging Het
Cyp2d12 T C 15: 82,440,934 (GRCm39) S151P probably damaging Het
Dlec1 A G 9: 118,955,242 (GRCm39) H642R probably benign Het
Eif6 T C 2: 155,665,206 (GRCm39) Y151C probably damaging Het
Erbb4 A T 1: 68,079,462 (GRCm39) M1206K probably benign Het
Fam178b G A 1: 36,639,216 (GRCm39) T361M probably damaging Het
Fbxo10 A G 4: 45,059,035 (GRCm39) F234S probably benign Het
Gcc2 A T 10: 58,094,064 (GRCm39) E13D probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gtf3c5 T C 2: 28,460,499 (GRCm39) K367E probably damaging Het
Ifi204 T C 1: 173,589,269 (GRCm39) E54G probably benign Het
Kalrn A T 16: 33,848,346 (GRCm39) I492N probably damaging Het
Kifbp T C 10: 62,410,923 (GRCm39) N140S possibly damaging Het
Map2k5 A G 9: 63,229,528 (GRCm39) Y168H probably benign Het
Mbip A C 12: 56,384,383 (GRCm39) probably null Het
Mcmdc2 C T 1: 10,004,242 (GRCm39) T574I probably damaging Het
Or10a3b T C 7: 108,444,747 (GRCm39) T157A probably benign Het
Or52j3 T G 7: 102,836,511 (GRCm39) D234E probably benign Het
Or5w22 A T 2: 87,363,285 (GRCm39) M303L probably benign Het
Or8d2 T A 9: 38,760,085 (GRCm39) I225N probably damaging Het
Or8g33 T C 9: 39,337,836 (GRCm39) Y177C probably damaging Het
Or9s27 A T 1: 92,516,768 (GRCm39) R239W probably damaging Het
Pdzd8 A G 19: 59,287,957 (GRCm39) *1148Q probably null Het
Phactr1 T A 13: 43,286,445 (GRCm39) I582N probably damaging Het
Phf20l1 T G 15: 66,502,762 (GRCm39) L714R probably damaging Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rcor3 T C 1: 191,822,179 (GRCm39) E6G possibly damaging Het
Skic3 T C 13: 76,333,298 (GRCm39) S1516P probably damaging Het
Sptlc2 G A 12: 87,397,069 (GRCm39) T239I possibly damaging Het
Tmc1 A T 19: 20,772,880 (GRCm39) V707D probably damaging Het
Tmem63b T A 17: 45,971,734 (GRCm39) E827V probably benign Het
Triml1 A G 8: 43,594,258 (GRCm39) S58P probably damaging Het
Zdbf2 A G 1: 63,347,687 (GRCm39) H2022R possibly damaging Het
Other mutations in Cacybp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Cacybp APN 1 160,034,206 (GRCm39) missense probably damaging 0.98
PIT4403001:Cacybp UTSW 1 160,033,764 (GRCm39) missense probably damaging 1.00
R2936:Cacybp UTSW 1 160,035,947 (GRCm39) critical splice donor site probably null
R3811:Cacybp UTSW 1 160,031,222 (GRCm39) missense probably benign 0.38
R5420:Cacybp UTSW 1 160,035,914 (GRCm39) intron probably benign
R6495:Cacybp UTSW 1 160,036,093 (GRCm39) missense probably benign 0.35
R7082:Cacybp UTSW 1 160,031,229 (GRCm39) missense probably damaging 1.00
R9368:Cacybp UTSW 1 160,031,208 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GCAGCTGGCTTTTCATTATCAAG -3'
(R):5'- GTAGTGCCTCCAGTCAGATG -3'

Sequencing Primer
(F):5'- AGCTGGCTTTTCATTATCAAGTTCTG -3'
(R):5'- GTAGTGCCTCCAGTCAGATGTATTC -3'
Posted On 2018-09-12