Incidental Mutation 'R8883:Ccnb1ip1'
ID 677125
Institutional Source Beutler Lab
Gene Symbol Ccnb1ip1
Ensembl Gene ENSMUSG00000071470
Gene Name cyclin B1 interacting protein 1
Synonyms mei4, Hei10, LOC239083
MMRRC Submission 068689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8883 (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 C at 51027359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 248 (P248A)
Ref Sequence ENSEMBL: ENSMUSP00000093622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006451] [ENSMUST00000095932] [ENSMUST00000226768] [ENSMUST00000227614] [ENSMUST00000228440]
AlphaFold D3Z3K2
Predicted Effect probably benign
Transcript: ENSMUST00000006451
SMART Domains Protein: ENSMUSP00000006451
Gene: ENSMUSG00000006288

DomainStartEndE-ValueType
Pfam:TPR_2 103 136 1.6e-5 PFAM
Blast:TPR 224 257 2e-8 BLAST
low complexity region 261 280 N/A INTRINSIC
Pfam:TTC5_OB 318 432 3.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095932
AA Change: P248A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093622
Gene: ENSMUSG00000071470
AA Change: P248A

DomainStartEndE-ValueType
Pfam:zf-RING_5 9 53 2.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226768
Predicted Effect probably benign
Transcript: ENSMUST00000227614
Predicted Effect probably benign
Transcript: ENSMUST00000228440
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,283,168 (GRCm39) S3197P probably benign Het
Arih2 A G 9: 108,486,992 (GRCm39) S315P probably damaging Het
Atp1b3 A T 9: 96,246,122 (GRCm39) L29Q probably damaging Het
Bsn G A 9: 107,990,227 (GRCm39) P1842S probably damaging Het
Cep76 T C 18: 67,766,540 (GRCm39) Q262R probably benign Het
Cox10 T C 11: 63,884,775 (GRCm39) E210G probably damaging Het
Dcaf1 T G 9: 106,724,839 (GRCm39) probably benign Het
Dgki A T 6: 36,993,608 (GRCm39) D584E probably damaging Het
Evpl T C 11: 116,121,243 (GRCm39) E428G probably damaging Het
Fbh1 A G 2: 11,753,922 (GRCm39) F807L probably benign Het
Fbxo11 A G 17: 88,305,044 (GRCm39) V533A Het
Fermt3 G T 19: 6,980,600 (GRCm39) D322E probably damaging Het
Fsip2 G T 2: 82,809,524 (GRCm39) V1948L possibly damaging Het
Gata4 T C 14: 63,442,204 (GRCm39) D206G probably benign Het
Gjd3 A G 11: 102,691,769 (GRCm39) V78A probably damaging Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Hmces G A 6: 87,910,396 (GRCm39) A269T probably benign Het
Kalrn A T 16: 33,814,025 (GRCm39) N2434K probably damaging Het
Kif1b A T 4: 149,361,342 (GRCm39) S49T probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lap3 C A 5: 45,669,272 (GRCm39) H474N probably benign Het
Ldlrad1 A G 4: 107,073,412 (GRCm39) Y149C probably damaging Het
Lsm8 T C 6: 18,851,747 (GRCm39) V62A probably benign Het
Map3k14 T G 11: 103,130,278 (GRCm39) Q213P probably benign Het
Mboat2 T G 12: 25,009,033 (GRCm39) H478Q Het
Mepce C A 5: 137,784,779 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,636 (GRCm39) R233H Het
Muc2 A G 7: 141,287,469 (GRCm39) H216R probably damaging Het
Ntmt1 G A 2: 30,712,466 (GRCm39) A170T probably benign Het
Or2ag15 A G 7: 106,340,274 (GRCm39) I289T possibly damaging Het
Or2d3 A C 7: 106,490,536 (GRCm39) M260R probably damaging Het
Or5w17 T A 2: 87,583,838 (GRCm39) L166F probably damaging Het
Or8g19 A G 9: 39,056,083 (GRCm39) H229R probably benign Het
Pebp4 G T 14: 70,085,098 (GRCm39) C52F probably damaging Het
Pigm T A 1: 172,205,085 (GRCm39) Y274N probably damaging Het
Pik3r6 T C 11: 68,424,468 (GRCm39) S358P probably benign Het
Plekhd1 T C 12: 80,767,368 (GRCm39) I252T probably benign Het
Prss3b G T 6: 41,009,305 (GRCm39) Y176* probably null Het
Racgap1 A G 15: 99,526,540 (GRCm39) V341A probably benign Het
Rprd1a T C 18: 24,640,260 (GRCm39) D172G possibly damaging Het
Spg11 T C 2: 121,943,561 (GRCm39) D197G probably damaging Het
Spmap2 T C 10: 79,412,474 (GRCm39) D339G probably benign Het
Spta1 A T 1: 174,021,145 (GRCm39) K574N possibly damaging Het
Srrd A T 5: 112,487,790 (GRCm39) F130L possibly damaging Het
Stim1 A T 7: 102,080,257 (GRCm39) H547L unknown Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tap1 T C 17: 34,406,867 (GRCm39) V5A unknown Het
Tent5c C A 3: 100,379,707 (GRCm39) A350S probably benign Het
Usp45 G A 4: 21,825,006 (GRCm39) G586D probably damaging Het
Vps13c G T 9: 67,855,479 (GRCm39) A2515S probably benign Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfyve28 T C 5: 34,375,211 (GRCm39) probably null 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
R6601:Ccnb1ip1 UTSW 14 51,031,121 (GRCm39) missense possibly damaging 0.95
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
Z1176:Ccnb1ip1 UTSW 14 51,029,561 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAAATGCCCATGCCCTAAGC -3'
(R):5'- GCCCTTTGGTCTAGGAGATG -3'

Sequencing Primer
(F):5'- GCCCATGCCCTAAGCTAACAATC -3'
(R):5'- CCTTTGGTCTAGGAGATGAGTTTAAG -3'
Posted On 2021-08-02