Incidental Mutation 'R8829:Cenpu'
ID 673681
Institutional Source Beutler Lab
Gene Symbol Cenpu
Ensembl Gene ENSMUSG00000031629
Gene Name centromere protein U
Synonyms 1700029A22Rik, Mlf1ip
MMRRC Submission 068731-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8829 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47026496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 294 (L294P)
Ref Sequence ENSEMBL: ENSMUSP00000034045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000040468] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000136335] [ENSMUST00000210368] [ENSMUST00000211400]
AlphaFold Q8C4M7
Predicted Effect probably damaging
Transcript: ENSMUST00000034045
AA Change: L294P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: L294P

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: ENSMUST00000040468
SMART Domains Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225

DomainStartEndE-ValueType
Pfam:Herpes_UL52 384 448 1.3e-19 PFAM
low complexity region 465 478 N/A INTRINSIC
low complexity region 491 516 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093518
AA Change: L144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091239
Gene: ENSMUSG00000031629
AA Change: L144P

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: ENSMUST00000136335
Predicted Effect probably benign
Transcript: ENSMUST00000210368
Predicted Effect probably benign
Transcript: ENSMUST00000211400
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A T 3: 59,939,240 (GRCm39) I5F probably benign Het
Abca13 A T 11: 9,571,881 (GRCm39) D4814V probably damaging Het
Adgrl1 A G 8: 84,665,458 (GRCm39) N1382D Het
Adh6b T C 3: 138,055,463 (GRCm39) V71A probably benign Het
Aox4 A T 1: 58,294,649 (GRCm39) M953L probably benign Het
B3galt9 T A 2: 34,728,634 (GRCm39) N144K probably benign Het
Bach2 A T 4: 32,562,028 (GRCm39) E165V probably damaging Het
Bltp2 A G 11: 78,158,064 (GRCm39) K409E probably benign Het
Catsperg2 A G 7: 29,397,269 (GRCm39) V1078A probably benign Het
Ccno A G 13: 113,126,239 (GRCm39) N236S probably benign Het
Ccpg1 A T 9: 72,917,633 (GRCm39) D255V probably benign Het
Cdhr2 A T 13: 54,865,930 (GRCm39) Y278F probably damaging Het
Cdk17 C T 10: 93,042,920 (GRCm39) probably benign Het
Celsr3 A G 9: 108,717,582 (GRCm39) D2216G probably benign Het
Chct1 A G 11: 85,062,037 (GRCm39) D12G probably damaging Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Ctnna2 G A 6: 77,582,205 (GRCm39) R352* probably null Het
D630003M21Rik C A 2: 158,058,856 (GRCm39) C348F probably damaging Het
Dcdc2a C T 13: 25,294,051 (GRCm39) Q236* probably null Het
Ddx60 T G 8: 62,393,695 (GRCm39) S44A probably damaging Het
Dennd2c T A 3: 103,059,720 (GRCm39) probably null Het
Drd5 G A 5: 38,477,078 (GRCm39) V24M probably benign Het
Dthd1 T C 5: 62,971,608 (GRCm39) S144P probably benign Het
Fcna C A 2: 25,516,145 (GRCm39) R124L possibly damaging Het
Frem1 T C 4: 82,918,431 (GRCm39) R504G probably damaging Het
Gldc C G 19: 30,078,212 (GRCm39) M928I probably benign Het
Gprc6a A C 10: 51,491,295 (GRCm39) I818R probably damaging Het
Hcfc2 T C 10: 82,574,179 (GRCm39) Y118H probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Htr1d A T 4: 136,170,554 (GRCm39) H261L probably benign Het
Hycc2 A T 1: 58,587,832 (GRCm39) I127N possibly damaging Het
Igf1r T A 7: 67,875,769 (GRCm39) F1244I probably damaging Het
Ighv1-63 A G 12: 115,459,534 (GRCm39) V21A probably benign Het
Kit A G 5: 75,799,791 (GRCm39) N508D probably benign Het
Klk1b22 A T 7: 43,764,277 (GRCm39) E68D probably benign Het
Knstrn C T 2: 118,654,222 (GRCm39) Q211* probably null Het
Krtap2-4 A T 11: 99,505,246 (GRCm39) C122S unknown Het
Map3k1 T G 13: 111,889,015 (GRCm39) H1314P possibly damaging Het
Mgat4c A T 10: 102,214,084 (GRCm39) K22N probably damaging Het
Mpo T A 11: 87,694,250 (GRCm39) F660Y probably damaging Het
Myb A T 10: 21,021,130 (GRCm39) L433H probably damaging Het
Myo1c G A 11: 75,561,072 (GRCm39) V793I probably benign Het
Nckap1l T A 15: 103,387,242 (GRCm39) S706T probably benign Het
Ncoa3 A G 2: 165,892,068 (GRCm39) Y148C probably damaging Het
Nktr T A 9: 121,583,330 (GRCm39) S1432T unknown Het
Odf2l C T 3: 144,833,820 (GRCm39) S160L probably benign Het
Or10j7 C T 1: 173,011,458 (GRCm39) R181H probably benign Het
Or56b34 T C 7: 104,937,435 (GRCm39) L45P possibly damaging Het
Or6x1 T A 9: 40,099,209 (GRCm39) F266Y probably benign Het
Or8d23 G T 9: 38,842,190 (GRCm39) C241F probably damaging Het
Pclo T C 5: 14,838,464 (GRCm39) W1424R Het
Pcx A G 19: 4,651,968 (GRCm39) D72G probably damaging Het
Pebp4 A G 14: 70,285,916 (GRCm39) D193G probably benign Het
Pi4kb C T 3: 94,900,344 (GRCm39) T326M probably damaging Het
Piezo1 A C 8: 123,217,753 (GRCm39) M1265R Het
Pip4k2c A T 10: 127,037,037 (GRCm39) H177Q probably damaging Het
Pramel48 G T 5: 95,630,939 (GRCm39) C272F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptger3 A G 3: 157,273,423 (GRCm39) T257A probably damaging Het
Relt T A 7: 100,499,479 (GRCm39) S147C probably damaging Het
Scap A G 9: 110,209,271 (GRCm39) Y648C probably damaging Het
Scn9a T A 2: 66,313,961 (GRCm39) D1919V probably benign Het
Septin8 G A 11: 53,422,865 (GRCm39) V25I probably damaging Het
Serpinb2 A G 1: 107,443,257 (GRCm39) I19V probably benign Het
Slc16a6 A G 11: 109,345,932 (GRCm39) Y444H probably benign Het
Syne1 T C 10: 5,058,685 (GRCm39) E7276G probably benign Het
Syt1 C A 10: 108,478,193 (GRCm39) C77F probably benign Het
Tcf20 T A 15: 82,739,915 (GRCm39) K512M probably damaging Het
Tomm7 T C 5: 24,049,047 (GRCm39) K9E possibly damaging Het
Trank1 T C 9: 111,176,591 (GRCm39) S288P probably benign Het
Trem3 T C 17: 48,556,865 (GRCm39) V112A probably benign Het
Ttbk1 C A 17: 46,757,821 (GRCm39) G938W probably damaging Het
Vmn1r178 G A 7: 23,593,264 (GRCm39) C104Y probably damaging Het
Zpr1 T A 9: 46,192,344 (GRCm39) Y418* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACACGTGAGAACTCCTCTTACTTC -3'
(R):5'- AGAGATCCCCATTCCTCAGTG -3'

Sequencing Primer
(F):5'- AGACAGGTCTCACTGAACTTG -3'
(R):5'- CAGTGTCCATTAACATTACAAAAGC -3'
Posted On 2021-07-15