Incidental Mutation 'R6601:Ccnb1ip1'
ID 525295
Institutional Source Beutler Lab
Gene Symbol Ccnb1ip1
Ensembl Gene ENSMUSG00000071470
Gene Name cyclin B1 interacting protein 1
Synonyms mei4, Hei10, LOC239083
MMRRC Submission 044725-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6601 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51026706-51033185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 51031121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 64 (T64K)
Ref Sequence ENSEMBL: ENSMUSP00000093622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095932] [ENSMUST00000227614]
AlphaFold D3Z3K2
Predicted Effect possibly damaging
Transcript: ENSMUST00000095932
AA Change: T64K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093622
Gene: ENSMUSG00000071470
AA Change: T64K

DomainStartEndE-ValueType
Pfam:zf-RING_5 9 53 2.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227614
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for an ENU-induced mutation have abnormal testicular and ovarian morphology and exhibit sterility in both sexes owing to meiotic defects. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(3) Gene trapped(3) Chemically induced(1)
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T G 1: 58,102,665 (GRCm39) L527R probably damaging Het
Ccdc172 T A 19: 58,525,723 (GRCm39) C194S possibly damaging Het
Ces1b T C 8: 93,806,109 (GRCm39) E44G probably benign Het
Coro2a A T 4: 46,543,421 (GRCm39) Y317* probably null Het
Csnk1a1 T C 18: 61,711,829 (GRCm39) F281S probably damaging Het
Ddx28 A T 8: 106,737,248 (GRCm39) probably null Het
Dtnbp1 A G 13: 45,084,721 (GRCm39) probably null Het
Eif2s1 T C 12: 78,930,126 (GRCm39) I258T possibly damaging Het
Elp3 T C 14: 65,784,488 (GRCm39) *554W probably null Het
Golga1 T C 2: 38,910,118 (GRCm39) M610V probably damaging Het
Hc T A 2: 34,935,906 (GRCm39) K156N probably benign Het
Hcls1 G A 16: 36,782,748 (GRCm39) G428D probably benign Het
Il16 T C 7: 83,371,677 (GRCm39) D43G probably damaging Het
Klhl3 C A 13: 58,242,930 (GRCm39) K91N probably damaging Het
L3mbtl1 C T 2: 162,790,095 (GRCm39) probably benign Het
Lamc3 T C 2: 31,810,544 (GRCm39) F805L possibly damaging Het
Lipg T C 18: 75,081,275 (GRCm39) M269V probably benign Het
Ly75 G A 2: 60,148,720 (GRCm39) T1203I probably benign Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Muc16 A T 9: 18,548,866 (GRCm39) L5809Q probably benign Het
Naip6 G A 13: 100,420,266 (GRCm39) R1335C probably benign Het
Ndufaf3 T C 9: 108,443,416 (GRCm39) H128R probably benign Het
Nphp4 A T 4: 152,587,464 (GRCm39) probably null Het
Or8u8 T A 2: 86,012,309 (GRCm39) I49F probably damaging Het
Otop3 T C 11: 115,230,673 (GRCm39) V148A probably damaging Het
Ovgp1 T C 3: 105,893,747 (GRCm39) probably benign Het
Pcsk5 T G 19: 17,488,744 (GRCm39) R1025S probably benign Het
Pkd1l2 T C 8: 117,767,405 (GRCm39) D1295G probably benign Het
Polr1d T A 5: 147,015,359 (GRCm39) L14* probably null Het
Rab26 T A 17: 24,748,595 (GRCm39) K270* probably null Het
Rasgef1c T A 11: 49,862,246 (GRCm39) N378K probably damaging Het
Rpl7a T C 2: 26,801,536 (GRCm39) V76A probably benign Het
Samd9l T A 6: 3,377,229 (GRCm39) I11F possibly damaging Het
Smarca2 C A 19: 26,631,777 (GRCm39) Q531K probably benign Het
Styxl1 C G 5: 135,784,350 (GRCm39) G211A probably benign Het
Taar9 T C 10: 23,984,945 (GRCm39) Y163C probably damaging Het
Tmem198 T A 1: 75,457,017 (GRCm39) F48I possibly damaging Het
Ttn T A 2: 76,595,073 (GRCm39) N12032I probably damaging Het
Ubr7 T A 12: 102,727,723 (GRCm39) C82S probably damaging Het
Wwtr1 T C 3: 57,483,159 (GRCm39) E48G possibly damaging Het
Zfp108 T C 7: 23,960,819 (GRCm39) V470A probably damaging Het
Zfp612 C A 8: 110,816,181 (GRCm39) Q424K possibly damaging Het
Zscan4-ps1 T C 7: 10,802,761 (GRCm39) T13A probably benign Het
Other mutations in Ccnb1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Ccnb1ip1 APN 14 51,029,556 (GRCm39) missense probably damaging 1.00
R0069:Ccnb1ip1 UTSW 14 81,519,382 (GRCm38) nonsense probably null
R1164:Ccnb1ip1 UTSW 14 51,029,594 (GRCm39) missense possibly damaging 0.65
R1328:Ccnb1ip1 UTSW 14 51,027,382 (GRCm39) missense probably benign 0.06
R1769:Ccnb1ip1 UTSW 14 51,029,568 (GRCm39) missense probably benign 0.10
R4614:Ccnb1ip1 UTSW 14 51,029,652 (GRCm39) missense probably benign 0.04
R4671:Ccnb1ip1 UTSW 14 51,029,734 (GRCm39) nonsense probably null
R4752:Ccnb1ip1 UTSW 14 51,031,122 (GRCm39) missense possibly damaging 0.64
R4913:Ccnb1ip1 UTSW 14 51,029,601 (GRCm39) nonsense probably null
R5974:Ccnb1ip1 UTSW 14 51,029,662 (GRCm39) missense probably benign 0.00
R7078:Ccnb1ip1 UTSW 14 51,029,724 (GRCm39) nonsense probably null
R7284:Ccnb1ip1 UTSW 14 51,029,736 (GRCm39) missense probably damaging 1.00
R7881:Ccnb1ip1 UTSW 14 51,031,277 (GRCm39) missense possibly damaging 0.83
R8200:Ccnb1ip1 UTSW 14 51,029,750 (GRCm39) missense probably benign 0.01
R8509:Ccnb1ip1 UTSW 14 51,029,714 (GRCm39) missense probably benign
R8870:Ccnb1ip1 UTSW 14 51,029,450 (GRCm39) missense probably benign 0.15
R8883:Ccnb1ip1 UTSW 14 51,027,359 (GRCm39) missense probably benign 0.02
Z1176:Ccnb1ip1 UTSW 14 51,029,561 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGTGGCCTATCAGGTATCTTCG -3'
(R):5'- ACATGCTGCTTTGCAATTATCGG -3'

Sequencing Primer
(F):5'- ATCAGGTATCTTCGCATGAGAGCC -3'
(R):5'- GAAGTGTCGGATCAAGCTCTC -3'
Posted On 2018-06-22