Incidental Mutation 'R4528:Cenpu'
ID 332999
Institutional Source Beutler Lab
Gene Symbol Cenpu
Ensembl Gene ENSMUSG00000031629
Gene Name centromere protein U
Synonyms 1700029A22Rik, Mlf1ip
MMRRC Submission 041769-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4528 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 47015457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 34 (G34*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000210368]
AlphaFold Q8C4M7
Predicted Effect probably damaging
Transcript: ENSMUST00000034045
AA Change: R124M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: R124M

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 null
Transcript: ENSMUST00000122838
AA Change: G34*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129371
Predicted Effect probably benign
Transcript: ENSMUST00000135432
Predicted Effect probably benign
Transcript: ENSMUST00000210368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211217
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A T 9: 53,412,059 (GRCm39) I999K probably benign Het
Camsap3 A G 8: 3,656,515 (GRCm39) E535G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Col7a1 C A 9: 108,788,601 (GRCm39) A739D unknown Het
Coro1b T C 19: 4,199,980 (GRCm39) V107A probably benign Het
Cpeb3 T C 19: 37,116,488 (GRCm39) D381G possibly damaging Het
Cyp2a22 T C 7: 26,634,194 (GRCm39) D320G possibly damaging Het
Dcaf1 A T 9: 106,721,403 (GRCm39) K398N probably damaging Het
Etfa A G 9: 55,407,334 (GRCm39) S52P probably damaging Het
Fat4 T A 3: 38,945,443 (GRCm39) H1445Q probably benign Het
Foxred2 T A 15: 77,827,449 (GRCm39) M637L probably benign Het
Gbe1 A T 16: 70,275,225 (GRCm39) I342L probably benign Het
Gm14410 A T 2: 176,885,736 (GRCm39) I176K probably benign Het
Gm14410 G T 2: 176,885,734 (GRCm39) H177N probably damaging Het
Gm1527 T A 3: 28,968,542 (GRCm39) M198K probably damaging Het
Hr T C 14: 70,803,823 (GRCm39) L838P probably damaging Het
Kmt2e T C 5: 23,678,556 (GRCm39) S212P possibly damaging Het
Lims1 T C 10: 58,245,882 (GRCm39) C180R probably damaging Het
Mki67 A T 7: 135,297,088 (GRCm39) S2649T probably damaging Het
Or10x1 T A 1: 174,196,822 (GRCm39) L113H probably damaging Het
Or4f57 T C 2: 111,791,293 (GRCm39) N42D probably damaging Het
Or51t4 A G 7: 102,598,013 (GRCm39) M104V probably damaging Het
Pde4dip C T 3: 97,624,338 (GRCm39) E1399K probably damaging Het
Pex1 T C 5: 3,681,712 (GRCm39) Y1053H probably damaging Het
Plscr2 G A 9: 92,171,746 (GRCm39) E113K possibly damaging Het
Pus1 T C 5: 110,922,596 (GRCm39) Y309C probably damaging Het
Scube3 T A 17: 28,381,973 (GRCm39) V333D possibly damaging Het
Serpina11 A T 12: 103,952,592 (GRCm39) N66K probably benign Het
Thtpa T A 14: 55,333,039 (GRCm39) D41E probably damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Tlr12 A C 4: 128,511,818 (GRCm39) L144R probably damaging Het
Uba7 A G 9: 107,861,102 (GRCm39) E964G possibly damaging Het
Ugt1a6b T A 1: 88,035,301 (GRCm39) I213N probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Zbtb43 A G 2: 33,352,337 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,347 (GRCm39) I72F possibly damaging Het
Zfpm1 G A 8: 123,062,381 (GRCm39) R480H probably benign 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
PIT4403001:Cenpu UTSW 8 47,015,564 (GRCm39) missense possibly damaging 0.81
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
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'- TACCCAGTCAGTTTCTGTAGTGTC -3'
(R):5'- TGCTGGTGTCTCGTCTACAG -3'

Sequencing Primer
(F):5'- CAGTCAGTTTCTGTAGTGTCTGTTAG -3'
(R):5'- TCTCGTCTACAGGAGAGAGCTG -3'
Posted On 2015-08-18