Incidental Mutation 'R5384:Cenpu'
ID 424938
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 # R5384 (G1)
Quality Score 208
Status Not validated
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47015534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 150 (G150R)
Ref Sequence ENSEMBL: ENSMUSP00000034045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000210368]
AlphaFold Q8C4M7
Predicted Effect probably benign
Transcript: ENSMUST00000034045
AA Change: G150R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: G150R

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 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 126 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,496 (GRCm39) V246A probably benign Het
Abcc10 T C 17: 46,615,361 (GRCm39) S1343G possibly damaging Het
Abcd3 C A 3: 121,555,059 (GRCm39) probably null Het
Actl6a T A 3: 32,774,642 (GRCm39) M335K probably damaging Het
Adamts9 A C 6: 92,774,999 (GRCm39) C1090W probably damaging Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Ankhd1 A G 18: 36,724,548 (GRCm39) E402G probably damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Apeh A T 9: 107,963,662 (GRCm39) L551H probably damaging Het
Avpr1a T A 10: 122,285,274 (GRCm39) F189I probably damaging Het
BC034090 T A 1: 155,117,773 (GRCm39) H115L possibly damaging Het
C4b A T 17: 34,956,635 (GRCm39) D654E possibly damaging Het
Carns1 T A 19: 4,221,900 (GRCm39) probably null Het
Ccdc146 T A 5: 21,513,711 (GRCm39) E469V probably benign Het
Cdc27 A G 11: 104,397,966 (GRCm39) I804T probably benign Het
Cdh23 G A 10: 60,173,541 (GRCm39) T1651I probably damaging Het
Cenpo G A 12: 4,266,646 (GRCm39) P154L probably damaging Het
Chrna10 C A 7: 101,763,560 (GRCm39) L78F probably damaging Het
Chrne A T 11: 70,505,913 (GRCm39) N457K possibly damaging Het
Cidea A T 18: 67,493,236 (GRCm39) D85V probably damaging Het
Cldn18 T C 9: 99,591,911 (GRCm39) S31G possibly damaging Het
Clpb T A 7: 101,428,548 (GRCm39) I436N probably damaging Het
Col11a2 T C 17: 34,278,148 (GRCm39) probably null Het
Cul7 T C 17: 46,965,403 (GRCm39) V527A probably benign Het
Dchs1 A C 7: 105,407,236 (GRCm39) V2119G probably damaging Het
Dchs1 T A 7: 105,421,262 (GRCm39) D386V probably damaging Het
Dcstamp A C 15: 39,622,715 (GRCm39) Q345H probably damaging Het
Dlgap3 A G 4: 127,130,123 (GRCm39) I955V probably damaging Het
Dvl1 A G 4: 155,938,143 (GRCm39) D97G probably damaging Het
Dync2h1 T C 9: 7,016,791 (GRCm39) D3573G probably damaging Het
Efr3b G T 12: 4,033,419 (GRCm39) F129L probably benign Het
Etaa1 G A 11: 17,897,539 (GRCm39) L193F probably damaging Het
Fam13c G A 10: 70,388,899 (GRCm39) S474N probably benign Het
Fam171a2 C A 11: 102,328,693 (GRCm39) V689L possibly damaging Het
Fastkd3 T C 13: 68,732,704 (GRCm39) F342L probably benign Het
Fat4 T C 3: 39,050,095 (GRCm39) S3986P possibly damaging Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Fgr G A 4: 132,713,664 (GRCm39) probably null Het
Gbx2 T C 1: 89,856,635 (GRCm39) T252A probably damaging Het
Gm20671 A G 5: 32,977,286 (GRCm39) S1823P probably damaging Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gsdma A T 11: 98,557,275 (GRCm39) probably null Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Hdac9 A G 12: 34,479,557 (GRCm39) Y223H probably damaging Het
Igsf5 C A 16: 96,192,226 (GRCm39) T275N probably benign Het
Il23r G A 6: 67,463,275 (GRCm39) H73Y probably benign Het
Ipo4 G T 14: 55,863,653 (GRCm39) R1026S probably benign Het
Jade1 T A 3: 41,546,137 (GRCm39) I54N probably damaging Het
Khdrbs1 G T 4: 129,635,729 (GRCm39) D75E possibly damaging Het
Lrwd1 A T 5: 136,152,728 (GRCm39) D511E possibly damaging Het
Ly75 A T 2: 60,164,831 (GRCm39) C782* probably null Het
Mmp3 C T 9: 7,451,759 (GRCm39) R366* probably null Het
Mrgpra6 A G 7: 46,838,629 (GRCm39) C190R probably damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Myh10 T A 11: 68,692,434 (GRCm39) L1369Q probably damaging Het
Myof C T 19: 37,941,435 (GRCm39) A792T probably damaging Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Ncoa7 C A 10: 30,598,813 (GRCm39) A37S probably benign Het
Nfkb1 A G 3: 135,318,303 (GRCm39) V310A possibly damaging Het
Nmur2 T A 11: 55,931,040 (GRCm39) I224F probably damaging Het
Nr1d2 A T 14: 18,211,922 (GRCm38) S394T probably benign Het
Nudt12 A G 17: 59,310,434 (GRCm39) W390R probably damaging Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or2m13 A G 16: 19,226,547 (GRCm39) L73P probably damaging Het
Or4a79 T A 2: 89,551,649 (GRCm39) I269F possibly damaging Het
Or4e1 T A 14: 52,700,714 (GRCm39) T251S probably benign Het
Or52a20 T C 7: 103,366,562 (GRCm39) F254L probably benign Het
Pate2 A G 9: 35,581,837 (GRCm39) M44V probably damaging Het
Pikfyve T C 1: 65,283,568 (GRCm39) L735S probably damaging Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K probably damaging Het
Pld1 C A 3: 28,079,469 (GRCm39) R90S probably damaging Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppm1d A G 11: 85,202,609 (GRCm39) E104G probably damaging Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Ppp1r42 A G 1: 10,069,660 (GRCm39) L134P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Prss36 C A 7: 127,535,871 (GRCm39) R288L probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Psma3 G T 12: 71,021,539 (GRCm39) G7W probably damaging Het
Psmc3ip A T 11: 100,983,430 (GRCm39) probably null Het
Qser1 T C 2: 104,616,987 (GRCm39) E1275G probably damaging Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Rcc2 A T 4: 140,447,877 (GRCm39) K468* probably null Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Sec1 C A 7: 45,328,264 (GRCm39) R261L probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Homo
Sgip1 G A 4: 102,791,763 (GRCm39) V362I possibly damaging Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc12a9 A T 5: 137,329,276 (GRCm39) L126Q probably damaging Het
Slx4 A G 16: 3,808,669 (GRCm39) S424P probably damaging Het
Smg5 T C 3: 88,258,600 (GRCm39) S524P probably damaging Het
Sncaip A G 18: 53,018,113 (GRCm39) D418G probably damaging Het
Spata31d1b C A 13: 59,866,032 (GRCm39) T1060K possibly damaging Het
Spink6 A G 18: 44,215,347 (GRCm39) T66A probably damaging Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stk39 T A 2: 68,240,383 (GRCm39) D116V probably damaging Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Svep1 T C 4: 58,104,545 (GRCm39) K1226R possibly damaging Het
Syne1 C T 10: 4,991,494 (GRCm39) V557I probably benign Het
Tas2r117 G T 6: 132,780,117 (GRCm39) S85I probably benign Het
Tcf20 T A 15: 82,740,400 (GRCm39) Q350H probably damaging Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tfb2m A C 1: 179,373,437 (GRCm39) probably null Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tpd52 A T 3: 8,996,255 (GRCm39) probably null Het
Trappc8 A T 18: 20,966,119 (GRCm39) probably null Het
Trbv30 A G 6: 41,258,854 (GRCm39) T88A probably benign Het
Trim40 T A 17: 37,199,757 (GRCm39) N107I probably damaging Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Ttn A G 2: 76,708,692 (GRCm39) probably benign Het
Vav3 A G 3: 109,434,791 (GRCm39) M441V possibly damaging Het
Vmn1r42 T A 6: 89,822,366 (GRCm39) I68F probably damaging Het
Vmn2r118 C T 17: 55,918,565 (GRCm39) G109D probably benign Het
Vmn2r5 T A 3: 64,416,931 (GRCm39) M76L probably benign Het
Vwa7 G T 17: 35,243,902 (GRCm39) probably null Het
Xndc1 T C 7: 101,731,395 (GRCm39) V378A probably benign Het
Zc3h12d A T 10: 7,729,014 (GRCm39) D126V probably damaging Het
Zc3h13 A G 14: 75,581,059 (GRCm39) N1682S probably benign Het
Zc3h15 T C 2: 83,490,574 (GRCm39) I236T possibly damaging Het
Zfp13 A T 17: 23,800,156 (GRCm39) I34N probably damaging Het
Zfp169 A T 13: 48,643,751 (GRCm39) C459S possibly damaging Het
Zfyve28 A G 5: 34,374,311 (GRCm39) C568R probably 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
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
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'- TGCCATGTTTAGCGATGTTTAC -3'
(R):5'- CCGGGTTCTTCTAGACGAAAC -3'

Sequencing Primer
(F):5'- GCCATGTTTAGCGATGTTTACAAATG -3'
(R):5'- GGGTTCTTCTAGACGAAACACAGC -3'
Posted On 2016-08-04