Incidental Mutation 'PIT4403001:Cenpu'
ID 555474
Institutional Source Beutler Lab
Gene Symbol Cenpu
Ensembl Gene ENSMUSG00000031629
Gene Name centromere protein U
Synonyms 1700029A22Rik, Mlf1ip
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4403001 (G1)
Quality Score 110.008
Status Not validated
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47015564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 160 (P160S)
Ref Sequence ENSEMBL: ENSMUSP00000034045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000210368]
AlphaFold Q8C4M7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034045
AA Change: P160S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: P160S

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:CENP-U 138 312 6.5e-74 PFAM
low complexity region 340 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093518
SMART Domains Protein: ENSMUSP00000091239
Gene: ENSMUSG00000031629

DomainStartEndE-ValueType
Pfam:CENP-U 39 162 4.6e-61 PFAM
low complexity region 190 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122838
Predicted Effect probably benign
Transcript: ENSMUST00000135432
Predicted Effect probably benign
Transcript: ENSMUST00000210368
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.9%
  • 20x: 73.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E9.5, small embryo size and thickened visceral endoderm. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, other(2) Gene trapped(8)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 T C 3: 138,129,939 (GRCm39) V255A probably damaging Het
Ahnak T C 19: 8,983,540 (GRCm39) I1608T possibly damaging Het
Atm A T 9: 53,412,282 (GRCm39) D955E probably benign Het
Cacybp A G 1: 160,033,764 (GRCm39) S113P probably damaging Het
Clstn3 C T 6: 124,434,982 (GRCm39) G348D probably damaging Het
Cmtr1 T G 17: 29,917,047 (GRCm39) probably null Het
Dlgap2 T C 8: 14,881,528 (GRCm39) S867P probably damaging Het
Fbn1 A T 2: 125,184,831 (GRCm39) C1654S probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Garnl3 A T 2: 32,880,770 (GRCm39) L874Q probably damaging Het
Gcm2 A G 13: 41,256,315 (GRCm39) V478A probably benign Het
Gm1527 T C 3: 28,972,134 (GRCm39) I417T possibly damaging Het
Grip1 A G 10: 119,765,833 (GRCm39) E55G probably damaging Het
Ighv1-4 A G 12: 114,450,824 (GRCm39) S95P probably damaging Het
Jak3 C T 8: 72,136,993 (GRCm39) T723I probably benign Het
Jup A G 11: 100,268,913 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,611 (GRCm39) L285S probably damaging Het
Kmt2b G A 7: 30,285,114 (GRCm39) P593S probably damaging Het
Matcap1 T C 8: 106,011,376 (GRCm39) N253D probably benign Het
Mstn T C 1: 53,100,944 (GRCm39) M7T probably benign Het
Myh2 A T 11: 67,077,533 (GRCm39) K889N probably benign Het
Myo5a A G 9: 75,124,805 (GRCm39) T1787A probably damaging Het
Nlrp14 A T 7: 106,784,099 (GRCm39) Q607L possibly damaging Het
Ntf3 C T 6: 126,078,789 (GRCm39) R239Q probably damaging Het
Nup85 G T 11: 115,472,646 (GRCm39) R492L probably damaging Het
Ogfod3 A C 11: 121,087,561 (GRCm39) probably null Het
Or1j18 T A 2: 36,624,930 (GRCm39) I199K probably damaging Het
Or4c115 T A 2: 88,927,420 (GRCm39) M284L probably benign Het
Or4k40 A T 2: 111,251,165 (GRCm39) F44I probably benign Het
Or52h2 A G 7: 103,838,667 (GRCm39) V249A probably benign Het
Or8d1 T C 9: 38,766,676 (GRCm39) I106T probably benign Het
Oxct2a A T 4: 123,216,237 (GRCm39) D381E probably damaging Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pdgfc C T 3: 81,082,268 (GRCm39) P154S probably damaging Het
Phkg1 T C 5: 129,894,772 (GRCm39) T260A probably benign Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Plekhj1 C T 10: 80,632,293 (GRCm39) D150N unknown Het
Plppr1 T G 4: 49,337,648 (GRCm39) N316K probably benign Het
Pola2 A C 19: 6,009,074 (GRCm39) S95A possibly damaging Het
Polq G A 16: 36,880,949 (GRCm39) D1038N probably benign Het
Prim1 A T 10: 127,858,745 (GRCm39) I218L probably benign Het
Prkcz A G 4: 155,377,613 (GRCm39) probably null Het
Ptgr1 T C 4: 58,968,794 (GRCm39) K282E probably benign Het
Rbm5 A G 9: 107,637,535 (GRCm39) M132T probably damaging Het
Scn2a C T 2: 65,542,252 (GRCm39) T785M probably damaging Het
Setx A G 2: 29,023,967 (GRCm39) E141G probably damaging Het
Slc24a2 A G 4: 86,950,523 (GRCm39) F425L probably benign Het
Smarcc2 A T 10: 128,298,893 (GRCm39) H92L probably damaging Het
Tatdn1 C G 15: 58,777,596 (GRCm39) E220Q probably damaging Het
Tmc7 C A 7: 118,146,623 (GRCm39) Q488H probably benign Het
Tmc7 T G 7: 118,146,624 (GRCm39) Q488P possibly damaging Het
Tmem45b C T 9: 31,338,188 (GRCm39) D264N probably benign Het
Tmtc4 A C 14: 123,210,641 (GRCm39) S72R probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Ubac1 A T 2: 25,896,609 (GRCm39) M302K probably benign Het
Ubox5 A G 2: 130,442,597 (GRCm39) I30T probably damaging Het
Vwce A G 19: 10,615,461 (GRCm39) N114S possibly damaging Het
Xpo5 T A 17: 46,550,495 (GRCm39) D992E probably benign Het
Zfhx2 G A 14: 55,312,437 (GRCm39) P86S probably benign Het
Zfp335 T C 2: 164,735,636 (GRCm39) H1106R possibly damaging Het
Zfp653 T A 9: 21,977,053 (GRCm39) Q166L probably damaging Het
Zp3r T A 1: 130,510,609 (GRCm39) N436I possibly damaging Het
Other mutations in Cenpu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Cenpu APN 8 47,031,354 (GRCm39) missense probably damaging 1.00
IGL02968:Cenpu APN 8 47,009,230 (GRCm39) critical splice donor site probably null
3-1:Cenpu UTSW 8 47,026,523 (GRCm39) unclassified probably benign
R0278:Cenpu UTSW 8 47,031,344 (GRCm39) missense probably damaging 0.99
R1882:Cenpu UTSW 8 47,009,225 (GRCm39) missense probably damaging 1.00
R1957:Cenpu UTSW 8 47,025,872 (GRCm39) unclassified probably benign
R2894:Cenpu UTSW 8 47,029,384 (GRCm39) missense probably damaging 1.00
R4528:Cenpu UTSW 8 47,015,457 (GRCm39) nonsense probably null
R5279:Cenpu UTSW 8 47,031,945 (GRCm39) splice site probably null
R5384:Cenpu UTSW 8 47,015,534 (GRCm39) missense probably benign
R6196:Cenpu UTSW 8 47,015,615 (GRCm39) missense probably benign 0.28
R6562:Cenpu UTSW 8 47,025,858 (GRCm39) missense possibly damaging 0.93
R6669:Cenpu UTSW 8 47,029,319 (GRCm39) missense probably damaging 1.00
R7723:Cenpu UTSW 8 47,029,349 (GRCm39) missense probably damaging 1.00
R7792:Cenpu UTSW 8 47,015,502 (GRCm39) missense possibly damaging 0.92
R7895:Cenpu UTSW 8 47,015,499 (GRCm39) missense probably benign
R8395:Cenpu UTSW 8 47,007,084 (GRCm39) missense probably benign
R8829:Cenpu UTSW 8 47,026,496 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACTTCAGACGACTCACAGG -3'
(R):5'- CTTTCTGTGATCAAAGCTCTAAACC -3'

Sequencing Primer
(F):5'- CTTCAGACGACTCACAGGATTTGAG -3'
(R):5'- ACATAAGAAGACCTCTTTATTCCTCC -3'
Posted On 2019-06-07