Incidental Mutation 'R6196:Cenpu'
ID 502919
Institutional Source Beutler Lab
Gene Symbol Cenpu
Ensembl Gene ENSMUSG00000031629
Gene Name centromere protein U
Synonyms 1700029A22Rik, Mlf1ip
MMRRC Submission 044336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6196 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47015615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 177 (R177G)
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: R177G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: R177G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (55/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,436,554 (GRCm39) H241L possibly damaging Het
Acap1 T C 11: 69,777,893 (GRCm39) D115G probably damaging Het
Acvr2b T C 9: 119,262,469 (GRCm39) V510A possibly damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Agr2 A T 12: 36,045,591 (GRCm39) K26* probably null Het
Aox4 T A 1: 58,256,685 (GRCm39) I69N probably damaging Het
Asb4 G A 6: 5,390,699 (GRCm39) G31R probably benign Het
Atp6v1c2 C A 12: 17,351,187 (GRCm39) E105* probably null Het
Bend6 A G 1: 33,917,509 (GRCm39) Y44H probably damaging Het
Bltp3b T G 10: 89,641,195 (GRCm39) S789A probably benign Het
Btn2a2 C T 13: 23,672,015 (GRCm39) V25M possibly damaging Het
Cab39l T A 14: 59,737,039 (GRCm39) L53Q probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Cdc14b C T 13: 64,353,338 (GRCm39) probably benign Het
Chit1 C A 1: 134,074,381 (GRCm39) Y229* probably null Het
Crybg2 C A 4: 133,808,450 (GRCm39) S1350R probably damaging Het
Ctdspl2 A G 2: 121,809,373 (GRCm39) probably null Het
Ctsr A T 13: 61,308,345 (GRCm39) H266Q probably benign Het
Dynlt5 A G 4: 102,849,766 (GRCm39) E63G possibly damaging Het
Efcab3 T G 11: 104,746,386 (GRCm39) I2279S probably benign Het
Extl3 T A 14: 65,313,584 (GRCm39) M533L probably benign Het
Fam162b C A 10: 51,463,506 (GRCm39) probably null Het
Fbxo28 T C 1: 182,157,454 (GRCm39) K121R probably damaging Het
Fsip2 A C 2: 82,820,227 (GRCm39) E5320A possibly damaging Het
Galc A T 12: 98,225,421 (GRCm39) D56E probably damaging Het
Gm5468 A G 15: 25,414,481 (GRCm39) probably benign Het
Hk1 T A 10: 62,135,038 (GRCm39) H24L probably damaging Het
Igkv5-43 A G 6: 69,752,965 (GRCm39) V39A possibly damaging Het
Lemd2 G A 17: 27,411,976 (GRCm39) Q439* probably null Het
Lgi1 A G 19: 38,294,257 (GRCm39) N295S probably benign Het
Macc1 T G 12: 119,409,785 (GRCm39) S184R probably damaging Het
Msmo1 A G 8: 65,180,918 (GRCm39) probably benign Het
Muc5b C A 7: 141,405,333 (GRCm39) R914S unknown Het
Or10d1 G A 9: 39,483,776 (GRCm39) P260S possibly damaging Het
Or1e16 G A 11: 73,286,299 (GRCm39) A183V probably benign Het
Or1e17 G A 11: 73,831,635 (GRCm39) A188T possibly damaging Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Or5b110-ps1 A G 19: 13,260,290 (GRCm39) I44T probably benign Het
Plekha5 T C 6: 140,525,179 (GRCm39) S14P probably benign Het
Pus10 A G 11: 23,622,638 (GRCm39) K86R probably benign Het
Rab37 T C 11: 115,051,132 (GRCm39) V147A probably benign Het
Sin3a T A 9: 57,011,213 (GRCm39) I490N probably damaging Het
Slc27a4 A G 2: 29,695,762 (GRCm39) D99G probably benign Het
Slc43a2 C T 11: 75,459,206 (GRCm39) R413* probably null Het
Syna G T 5: 134,588,466 (GRCm39) T161N probably benign Het
T A G 17: 8,655,996 (GRCm39) D86G possibly damaging Het
Tanc1 G A 2: 59,674,366 (GRCm39) E1817K possibly damaging Het
Tap2 C A 17: 34,433,384 (GRCm39) Q516K possibly damaging Het
Tcaf1 A T 6: 42,653,741 (GRCm39) D717E probably damaging Het
Tcf20 G T 15: 82,736,187 (GRCm39) Q1755K possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trpm7 G A 2: 126,667,559 (GRCm39) P811S possibly damaging Het
Vmn2r59 A G 7: 41,661,679 (GRCm39) V712A probably benign Het
Vwc2l T A 1: 70,768,180 (GRCm39) D34E probably damaging Het
Wdr35 A G 12: 9,077,632 (GRCm39) K1091E 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
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
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'- GACGACTCACAGGATTTGAGC -3'
(R):5'- GGTTCTTCTAGACGAAACACAGC -3'

Sequencing Primer
(F):5'- GAGCTTTCTAAACTAGCATGCTG -3'
(R):5'- CTTCTAGACGAAACACAGCTTTCTG -3'
Posted On 2018-02-27