Incidental Mutation 'IGL02968:Cenpu'
ID 365713
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02968
Quality Score
Status
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 47009230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000153908] [ENSMUST00000210368]
AlphaFold Q8C4M7
Predicted Effect probably null
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: 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 noncoding transcript
Transcript: ENSMUST00000129371
Predicted Effect probably benign
Transcript: ENSMUST00000135432
Predicted Effect probably benign
Transcript: ENSMUST00000153908
Predicted Effect probably null
Transcript: ENSMUST00000210368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211217
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,900,454 (GRCm39) D441V probably damaging Het
Abcd1 T C X: 72,760,664 (GRCm39) S10P possibly damaging Het
Acad12 T C 5: 121,748,101 (GRCm39) S106G probably benign Het
C1s1 T C 6: 124,517,310 (GRCm39) T127A probably damaging Het
Cela3a A G 4: 137,131,132 (GRCm39) V202A probably damaging Het
Dusp9 T C X: 72,685,039 (GRCm39) S222P probably benign Het
Exoc5 A G 14: 49,270,726 (GRCm39) probably null Het
Foxp1 G T 6: 99,052,822 (GRCm39) A90D probably damaging Het
Krt12 G T 11: 99,308,843 (GRCm39) A398E probably damaging Het
Mtss1 G T 15: 58,828,364 (GRCm39) T183K possibly damaging Het
Napa T C 7: 15,847,266 (GRCm39) probably benign Het
Nlrp2 T C 7: 5,304,024 (GRCm39) E167G possibly damaging Het
Nos2 T C 11: 78,828,463 (GRCm39) Y148H probably damaging Het
Or2t43 T C 11: 58,458,021 (GRCm39) D50G possibly damaging Het
Or51aa5 C T 7: 103,167,466 (GRCm39) V42M probably damaging Het
Or52e18 A T 7: 104,609,451 (GRCm39) F163I possibly damaging Het
Pde7a G A 3: 19,297,285 (GRCm39) R122* probably null Het
Pkdrej A T 15: 85,700,382 (GRCm39) Y1851* probably null Het
Rbl1 C T 2: 157,019,194 (GRCm39) R517H probably damaging Het
Rnf10 A T 5: 115,383,947 (GRCm39) S661T probably benign Het
Ryr1 T C 7: 28,743,318 (GRCm39) D3886G probably damaging Het
Samd9l A G 6: 3,376,026 (GRCm39) Y412H probably damaging Het
Scarf1 T C 11: 75,414,915 (GRCm39) S530P probably damaging Het
Spam1 A G 6: 24,796,442 (GRCm39) E131G possibly damaging Het
Tmem185b C A 1: 119,454,851 (GRCm39) A204E possibly damaging Het
Tshz3 A G 7: 36,469,249 (GRCm39) K413E probably damaging Het
Vps13d A G 4: 144,849,068 (GRCm39) S2448P probably benign Het
Xkr5 T C 8: 18,983,641 (GRCm39) S634G probably benign Het
Zic1 G A 9: 91,244,543 (GRCm39) T372M probably damaging Het
Other mutations in Cenpu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Cenpu APN 8 47,031,354 (GRCm39) missense probably damaging 1.00
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
R8829:Cenpu UTSW 8 47,026,496 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18