Incidental Mutation 'R1957:Cenpu'
ID 217921
Institutional Source Beutler Lab
Gene Symbol Cenpu
Ensembl Gene ENSMUSG00000031629
Gene Name centromere protein U
Synonyms 1700029A22Rik, Mlf1ip
MMRRC Submission 039971-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1957 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 47025872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000040468] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000136335] [ENSMUST00000210368] [ENSMUST00000211400]
AlphaFold Q8C4M7
Predicted Effect probably benign
Transcript: ENSMUST00000034045
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629

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 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: ENSMUST00000136335
Predicted Effect probably benign
Transcript: ENSMUST00000210368
Predicted Effect probably benign
Transcript: ENSMUST00000211400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136724
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (117/121)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,068 (GRCm39) probably benign Het
Aadacl4fm5 G A 4: 144,504,389 (GRCm39) T254I possibly damaging Het
Abce1 A G 8: 80,412,578 (GRCm39) I583T probably benign Het
Abtb3 T C 10: 85,469,563 (GRCm39) L828P probably damaging Het
Adcy1 A T 11: 7,111,945 (GRCm39) T937S probably benign Het
Adgra2 A G 8: 27,601,196 (GRCm39) I279V possibly damaging Het
Adgrl4 A T 3: 151,216,416 (GRCm39) N533I possibly damaging Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Amelx A T X: 167,965,153 (GRCm39) probably null Het
Anks1b A T 10: 89,885,792 (GRCm39) T163S probably damaging Het
Apc A G 18: 34,450,388 (GRCm39) E2394G probably damaging Het
Arhgef39 C T 4: 43,499,309 (GRCm39) G56E probably damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Arsj A G 3: 126,232,670 (GRCm39) N472S probably benign Het
Atg2b T C 12: 105,635,677 (GRCm39) Y197C probably damaging Het
B3gat1 A T 9: 26,667,248 (GRCm39) D160V possibly damaging Het
Bmp7 T C 2: 172,781,714 (GRCm39) E50G probably damaging Het
Bms1 T C 6: 118,369,939 (GRCm39) E869G probably damaging Het
Brd4 G A 17: 32,440,340 (GRCm39) P332L possibly damaging Het
C130074G19Rik T C 1: 184,615,095 (GRCm39) T32A probably benign Het
C1rl A T 6: 124,486,021 (GRCm39) Y464F probably damaging Het
Ccdc150 T A 1: 54,303,068 (GRCm39) M193K probably benign Het
Ccdc7a A G 8: 129,706,616 (GRCm39) S338P probably damaging Het
Cep170 A C 1: 176,597,013 (GRCm39) V448G probably benign Het
Col27a1 G T 4: 63,196,031 (GRCm39) A879S probably benign Het
Crtac1 C T 19: 42,276,383 (GRCm39) S515N possibly damaging Het
Cstad G A 2: 30,498,293 (GRCm39) V43M unknown Het
Daam1 T C 12: 72,029,529 (GRCm39) probably null Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dsg3 A G 18: 20,655,162 (GRCm39) N153S probably damaging Het
Dzip3 C A 16: 48,747,956 (GRCm39) L1151F probably damaging Het
Eml5 A T 12: 98,826,220 (GRCm39) H644Q probably damaging Het
Emsy A G 7: 98,297,027 (GRCm39) L52P probably damaging Het
Eno1 T A 4: 150,331,232 (GRCm39) probably null Het
Epha3 T A 16: 63,593,315 (GRCm39) T258S probably benign Het
Ern1 T C 11: 106,317,723 (GRCm39) T134A probably damaging Het
Fam151b G T 13: 92,614,410 (GRCm39) T26K probably damaging Het
Fam151b T A 13: 92,614,411 (GRCm39) T26S probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Fbn1 T C 2: 125,209,574 (GRCm39) N930S possibly damaging Het
Fgr A G 4: 132,725,673 (GRCm39) M361V probably benign Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Fndc7 G A 3: 108,790,825 (GRCm39) T67I probably damaging Het
Fxr2 A G 11: 69,534,766 (GRCm39) T216A probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm42669 A T 5: 107,656,738 (GRCm39) E355D possibly damaging Het
Gm5174 A T 10: 86,492,617 (GRCm39) noncoding transcript Het
Gm5431 A T 11: 48,779,224 (GRCm39) L844* probably null Het
Gm6489 T C 1: 31,326,452 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,678 (GRCm39) V344A probably damaging Het
Gtpbp3 A G 8: 71,943,099 (GRCm39) E170G probably damaging Het
H2az1 A C 3: 137,571,275 (GRCm39) probably benign Het
Heatr1 A G 13: 12,411,419 (GRCm39) N87D probably damaging Het
Iars2 T C 1: 185,027,868 (GRCm39) K687E possibly damaging Het
Ica1 T C 6: 8,749,736 (GRCm39) D71G possibly damaging Het
Ifnlr1 T C 4: 135,413,881 (GRCm39) L10P probably damaging Het
Il1r1 T A 1: 40,352,300 (GRCm39) L490* probably null Het
Ip6k3 A T 17: 27,370,142 (GRCm39) L92Q probably benign Het
Itgbl1 T A 14: 124,204,090 (GRCm39) F394I probably damaging Het
Kat6b T C 14: 21,678,947 (GRCm39) Y437H probably damaging Het
Kcnh5 G C 12: 74,944,358 (GRCm39) Q964E probably benign Het
Krt27 A T 11: 99,237,309 (GRCm39) probably null Het
Mki67 A T 7: 135,300,128 (GRCm39) D1635E probably benign Het
Mmp23 G T 4: 155,736,509 (GRCm39) H177Q possibly damaging Het
Myef2l G T 3: 10,154,346 (GRCm39) V372F probably benign Het
Mylk2 C A 2: 152,759,527 (GRCm39) Q406K possibly damaging Het
Myo1g A G 11: 6,462,159 (GRCm39) probably null Het
Myrf T C 19: 10,197,160 (GRCm39) T261A probably benign Het
Nmt2 C T 2: 3,326,419 (GRCm39) P486L possibly damaging Het
Oard1 T A 17: 48,722,304 (GRCm39) L100* probably null Het
Oca2 T C 7: 55,971,246 (GRCm39) I391T possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5k17 T A 16: 58,746,530 (GRCm39) M135L probably benign Het
Or5p64 A C 7: 107,854,403 (GRCm39) L314* probably null Het
Or6c68 A T 10: 129,157,740 (GRCm39) I83F possibly damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Or9k2b C A 10: 130,015,847 (GRCm39) A301S possibly damaging Het
Pabpc4 T A 4: 123,180,658 (GRCm39) S127T probably damaging Het
Pcdhb1 A G 18: 37,398,760 (GRCm39) D237G probably damaging Het
Pdcd6ip T C 9: 113,537,090 (GRCm39) Y29C probably damaging Het
Phf3 C A 1: 30,870,601 (GRCm39) R95L probably damaging Het
Pkd1l2 A T 8: 117,757,421 (GRCm39) V1539D probably damaging Het
Plxna1 A T 6: 89,308,273 (GRCm39) D1271E probably damaging Het
Ppp3r2 A G 4: 49,681,726 (GRCm39) F75L probably damaging Het
Pth2r C A 1: 65,411,514 (GRCm39) D350E probably damaging Het
Rabgap1 T C 2: 37,373,774 (GRCm39) F262S possibly damaging Het
Rbbp6 T C 7: 122,589,511 (GRCm39) S438P probably benign Het
Rexo1 G A 10: 80,379,200 (GRCm39) R1038C probably damaging Het
Rnf10 A G 5: 115,398,381 (GRCm39) probably benign Het
Scyl1 C A 19: 5,810,132 (GRCm39) A565S probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Sh3yl1 A G 12: 30,992,787 (GRCm39) probably null Het
Slc1a7 G T 4: 107,825,782 (GRCm39) D14Y probably benign Het
Slc32a1 T C 2: 158,455,963 (GRCm39) V206A probably damaging Het
Smyd5 G A 6: 85,415,121 (GRCm39) R43Q probably benign Het
Snrnp200 G A 2: 127,058,095 (GRCm39) A286T possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Srebf2 T A 15: 82,079,155 (GRCm39) H794Q probably benign Het
Ssbp2 T C 13: 91,812,303 (GRCm39) probably benign Het
Sspo G A 6: 48,455,207 (GRCm39) G3023D probably damaging Het
St6galnac5 T A 3: 152,552,120 (GRCm39) Q149L probably benign Het
Stab2 A G 10: 86,697,334 (GRCm39) Y1985H probably benign Het
Suz12 A G 11: 79,889,926 (GRCm39) M146V probably benign Het
Tac2 A G 10: 127,564,349 (GRCm39) probably null Het
Thbd T C 2: 148,248,899 (GRCm39) E323G probably damaging Het
Tnfrsf26 T A 7: 143,171,660 (GRCm39) T98S probably damaging Het
Trim15 T C 17: 37,173,215 (GRCm39) probably benign Het
Trpt1 T C 19: 6,975,561 (GRCm39) V105A possibly damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r175 A G 7: 23,507,808 (GRCm39) V273A probably benign Het
Vmn2r109 A G 17: 20,784,969 (GRCm39) V17A probably benign Het
Vmn2r84 G A 10: 130,226,677 (GRCm39) A387V probably benign Het
Wdfy4 A T 14: 32,693,641 (GRCm39) L2728Q probably damaging Het
Zfp934 T A 13: 62,666,108 (GRCm39) T178S 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
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
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'- ATTGCAGCCCACCTTGTGTG -3'
(R):5'- AGCTGTTCTACAACCACAGGATC -3'

Sequencing Primer
(F):5'- CACCTTGTGTGCACGAGTG -3'
(R):5'- TGTTCTACAACCACAGGATCATGTC -3'
Posted On 2014-08-01