Incidental Mutation 'R1769:Ccnb1ip1'
ID 194730
Institutional Source Beutler Lab
Gene Symbol Ccnb1ip1
Ensembl Gene ENSMUSG00000071470
Gene Name cyclin B1 interacting protein 1
Synonyms mei4, Hei10, LOC239083
MMRRC Submission 039800-MU
Accession Numbers

Ncbi RefSeq: NM_001111119.1; MGI:2685134

Essential gene? Non essential (E-score: 0.000) question?
Stock # R1769 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 50789248-50807732 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50792111 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 165 (M165V)
Ref Sequence ENSEMBL: ENSMUSP00000093622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095932] [ENSMUST00000227614]
AlphaFold D3Z3K2
Predicted Effect probably benign
Transcript: ENSMUST00000095932
AA Change: M165V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093622
Gene: ENSMUSG00000071470
AA Change: M165V

Pfam:zf-RING_5 9 53 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226991
Predicted Effect probably benign
Transcript: ENSMUST00000227614
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (91/91)
MGI Phenotype Strain: 3050548
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A G 6: 50,591,821 (GRCm38) probably benign Het
A430033K04Rik A G 5: 138,646,257 (GRCm38) I135V probably benign Het
Abca1 T A 4: 53,074,325 (GRCm38) K1119N probably damaging Het
Abcb10 C T 8: 123,962,052 (GRCm38) G495D probably damaging Het
Abcc9 T C 6: 142,627,468 (GRCm38) probably benign Het
Akap3 A G 6: 126,865,846 (GRCm38) E476G possibly damaging Het
Aldh3b1 A G 19: 3,918,740 (GRCm38) F271S probably damaging Het
Alkbh2 C T 5: 114,124,226 (GRCm38) E148K probably damaging Het
Ascc3 T C 10: 50,700,490 (GRCm38) V847A probably damaging Het
Best3 A G 10: 117,023,978 (GRCm38) N381S probably benign Het
Blm A T 7: 80,513,370 (GRCm38) S78T probably benign Het
Bmpr2 T A 1: 59,868,361 (GRCm38) L871Q probably damaging Het
Car13 T A 3: 14,650,735 (GRCm38) H104Q probably benign Het
Ccdc39 T C 3: 33,826,480 (GRCm38) K446R probably damaging Het
Cd4 A T 6: 124,866,655 (GRCm38) M431K possibly damaging Het
Cdh7 C T 1: 110,052,876 (GRCm38) T178I probably damaging Het
Ceacam3 C T 7: 17,158,376 (GRCm38) T348I probably damaging Het
Cfap54 C T 10: 92,904,263 (GRCm38) probably null Het
Clcn6 A T 4: 148,014,301 (GRCm38) probably null Het
Csf3 A G 11: 98,702,420 (GRCm38) Y121C probably damaging Het
Csmd3 C T 15: 47,704,109 (GRCm38) probably benign Het
Cyp2c69 A G 19: 39,876,371 (GRCm38) I221T probably benign Het
Dgcr2 T C 16: 17,857,251 (GRCm38) probably benign Het
Dhcr7 T C 7: 143,847,513 (GRCm38) F474S probably damaging Het
Dnah1 T C 14: 31,310,882 (GRCm38) I399V probably null Het
Efcab14 T A 4: 115,752,991 (GRCm38) L183Q probably damaging Het
Elmsan1 G A 12: 84,158,350 (GRCm38) probably benign Het
Evx2 A G 2: 74,659,157 (GRCm38) V88A probably benign Het
Exph5 A G 9: 53,373,809 (GRCm38) N730S probably benign Het
Farsb T A 1: 78,466,983 (GRCm38) K196I probably benign Het
Fbln7 C T 2: 128,893,762 (GRCm38) probably benign Het
Fhdc1 A G 3: 84,448,778 (GRCm38) F453S probably damaging Het
Gast T A 11: 100,336,858 (GRCm38) W89R probably damaging Het
Gata2 A G 6: 88,205,255 (GRCm38) S402G probably benign Het
Gin1 T A 1: 97,792,437 (GRCm38) S386T probably benign Het
Golgb1 A G 16: 36,916,001 (GRCm38) E1870G probably damaging Het
Hivep3 T A 4: 120,097,571 (GRCm38) V1028E possibly damaging Het
Ifi203 G A 1: 173,928,760 (GRCm38) R486* probably null Het
Ifi209 G A 1: 173,641,162 (GRCm38) S186N probably benign Het
Ifih1 C T 2: 62,606,394 (GRCm38) A562T probably damaging Het
Itch T C 2: 155,172,561 (GRCm38) L106S probably damaging Het
Itga4 T A 2: 79,315,706 (GRCm38) probably null Het
Kdm4c A G 4: 74,280,997 (GRCm38) S141G possibly damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Klra3 T C 6: 130,330,263 (GRCm38) probably null Het
Lama2 G C 10: 27,208,407 (GRCm38) F922L probably benign Het
Lama2 A T 10: 27,208,406 (GRCm38) S923T probably damaging Het
Llgl1 G A 11: 60,707,047 (GRCm38) V331M probably damaging Het
Lrrc30 T C 17: 67,631,681 (GRCm38) *301W probably null Het
Map1lc3b C T 8: 121,593,487 (GRCm38) probably benign Het
Mbd2 A G 18: 70,616,619 (GRCm38) I302V probably benign Het
Med27 A G 2: 29,500,295 (GRCm38) Y78C probably damaging Het
Mei1 C T 15: 82,112,570 (GRCm38) probably null Het
Miga1 T C 3: 152,287,554 (GRCm38) E346G probably damaging Het
Myef2 A G 2: 125,115,443 (GRCm38) S131P probably damaging Het
Myocd T C 11: 65,178,701 (GRCm38) H899R probably benign Het
Ncam1 A G 9: 49,545,256 (GRCm38) probably benign Het
Ngf T A 3: 102,520,197 (GRCm38) N87K possibly damaging Het
Nol10 T A 12: 17,416,708 (GRCm38) probably benign Het
Nrip2 A G 6: 128,408,268 (GRCm38) I221V probably benign Het
Nup205 G A 6: 35,205,431 (GRCm38) G777D probably damaging Het
Olfr1446 A G 19: 12,889,683 (GRCm38) V298A probably damaging Het
Olfr199 A G 16: 59,215,981 (GRCm38) F211L probably benign Het
Olfr802 T A 10: 129,682,212 (GRCm38) T176S probably benign Het
Olfr855 A T 9: 19,585,386 (GRCm38) Q283L probably damaging Het
Olfr974 G T 9: 39,942,955 (GRCm38) D232Y probably benign Het
Oxt A T 2: 130,576,300 (GRCm38) R31W probably damaging Het
Pde4dip A G 3: 97,695,930 (GRCm38) S2248P probably benign Het
Pias1 A G 9: 62,952,178 (GRCm38) V16A probably damaging Het
Pkp2 T C 16: 16,262,697 (GRCm38) S616P probably damaging Het
Plch2 T C 4: 155,000,083 (GRCm38) Y379C probably damaging Het
Pnpt1 A G 11: 29,154,159 (GRCm38) N540D probably benign Het
Ptpn23 G A 9: 110,391,678 (GRCm38) H255Y possibly damaging Het
Rad21 T C 15: 51,972,307 (GRCm38) N237D probably benign Het
Ryr3 A C 2: 112,751,768 (GRCm38) probably null Het
Sgk1 C A 10: 21,997,108 (GRCm38) probably benign Het
Slc1a5 G T 7: 16,797,539 (GRCm38) A490S probably damaging Het
Slc5a8 T A 10: 88,919,466 (GRCm38) Y478* probably null Het
Slc5a8 T C 10: 88,919,464 (GRCm38) Y478H probably benign Het
Slc9a3 A T 13: 74,163,071 (GRCm38) M562L probably benign Het
Thsd7a G A 6: 12,555,715 (GRCm38) R57* probably null Het
Tiam1 T C 16: 89,860,279 (GRCm38) R690G probably damaging Het
Tmem150b A G 7: 4,724,366 (GRCm38) S47P probably damaging Het
Trim39 C T 17: 36,263,940 (GRCm38) R190Q probably damaging Het
Ttc32 A T 12: 9,035,073 (GRCm38) I98L possibly damaging Het
Vps13c A G 9: 67,965,721 (GRCm38) T3304A probably benign Het
Wdr35 A C 12: 9,012,728 (GRCm38) D638A probably damaging Het
Wwc1 G T 11: 35,861,844 (GRCm38) P797T probably benign Het
Zan T A 5: 137,464,518 (GRCm38) T800S unknown Het
Zbbx A G 3: 75,083,619 (GRCm38) probably benign Het
Zufsp T C 10: 33,935,176 (GRCm38) M291V probably damaging Het
Other mutations in Ccnb1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Ccnb1ip1 APN 14 50,792,099 (GRCm38) missense probably damaging 1.00
R0069:Ccnb1ip1 UTSW 14 81,519,382 (GRCm38) nonsense probably null
R1164:Ccnb1ip1 UTSW 14 50,792,137 (GRCm38) missense possibly damaging 0.65
R1328:Ccnb1ip1 UTSW 14 50,789,925 (GRCm38) missense probably benign 0.06
R4614:Ccnb1ip1 UTSW 14 50,792,195 (GRCm38) missense probably benign 0.04
R4671:Ccnb1ip1 UTSW 14 50,792,277 (GRCm38) nonsense probably null
R4752:Ccnb1ip1 UTSW 14 50,793,665 (GRCm38) missense possibly damaging 0.64
R4913:Ccnb1ip1 UTSW 14 50,792,144 (GRCm38) nonsense probably null
R5974:Ccnb1ip1 UTSW 14 50,792,205 (GRCm38) missense probably benign 0.00
R6601:Ccnb1ip1 UTSW 14 50,793,664 (GRCm38) missense possibly damaging 0.95
R7078:Ccnb1ip1 UTSW 14 50,792,267 (GRCm38) nonsense probably null
R7284:Ccnb1ip1 UTSW 14 50,792,279 (GRCm38) missense probably damaging 1.00
R7881:Ccnb1ip1 UTSW 14 50,793,820 (GRCm38) missense possibly damaging 0.83
R8200:Ccnb1ip1 UTSW 14 50,792,293 (GRCm38) missense probably benign 0.01
R8509:Ccnb1ip1 UTSW 14 50,792,257 (GRCm38) missense probably benign
R8870:Ccnb1ip1 UTSW 14 50,791,993 (GRCm38) missense probably benign 0.15
R8883:Ccnb1ip1 UTSW 14 50,789,902 (GRCm38) missense probably benign 0.02
Z1176:Ccnb1ip1 UTSW 14 50,792,104 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23