Incidental Mutation 'IGL02540:Cenpu'
ID 297671
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 # IGL02540
Quality Score
Status
Chromosome 8
Chromosomal Location 47005063-47033042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47031354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 245 (H245R)
Ref Sequence ENSEMBL: ENSMUSP00000091239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034045] [ENSMUST00000040468] [ENSMUST00000093518] [ENSMUST00000135432] [ENSMUST00000136335] [ENSMUST00000211400] [ENSMUST00000209787]
AlphaFold Q8C4M7
Predicted Effect probably damaging
Transcript: ENSMUST00000034045
AA Change: H395R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: H395R

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: H245R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091239
Gene: ENSMUSG00000031629
AA Change: H245R

DomainStartEndE-ValueType
Pfam:CENP-U 39 162 4.6e-61 PFAM
low complexity region 190 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135432
Predicted Effect probably benign
Transcript: ENSMUST00000136335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136724
Predicted Effect probably benign
Transcript: ENSMUST00000211400
Predicted Effect probably benign
Transcript: ENSMUST00000209787
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 C A 6: 119,336,456 (GRCm39) R169L probably benign Het
Arhgap1 C T 2: 91,500,584 (GRCm39) T371I probably damaging Het
Brpf3 C T 17: 29,047,328 (GRCm39) P1031S probably damaging Het
Dhx36 A G 3: 62,414,309 (GRCm39) S18P probably benign Het
Dst A G 1: 34,174,285 (GRCm39) T217A probably damaging Het
Ecpas A T 4: 58,805,534 (GRCm39) probably benign Het
Entpd8 A G 2: 24,974,731 (GRCm39) probably null Het
Fez1 A G 9: 36,761,695 (GRCm39) R122G probably damaging Het
Heatr5b A T 17: 79,081,001 (GRCm39) M1417K probably damaging Het
Higd1c T C 15: 100,263,247 (GRCm39) probably benign Het
Icosl G A 10: 77,905,370 (GRCm39) probably null Het
Il24 T C 1: 130,815,040 (GRCm39) probably benign Het
Kank3 T A 17: 34,038,161 (GRCm39) probably benign Het
Lrriq1 A G 10: 103,050,880 (GRCm39) L624P probably benign Het
Mov10l1 C A 15: 88,902,414 (GRCm39) T768K probably benign Het
Or14a258 T A 7: 86,035,386 (GRCm39) T161S possibly damaging Het
Or5ak25 A G 2: 85,269,259 (GRCm39) M81T probably benign Het
Or5aq7 A T 2: 86,938,386 (GRCm39) L115Q probably damaging Het
Pkn2 A T 3: 142,515,465 (GRCm39) F649I probably benign Het
Pld1 A G 3: 28,083,309 (GRCm39) probably benign Het
Prrc2c G A 1: 162,550,706 (GRCm39) S86L probably damaging Het
Rai1 G A 11: 60,077,750 (GRCm39) A605T probably benign Het
Reln T A 5: 22,239,750 (GRCm39) Q839L probably damaging Het
Rrp9 T C 9: 106,360,746 (GRCm39) probably benign Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tmtc2 A T 10: 105,249,200 (GRCm39) C178S probably benign Het
Vmn1r172 T A 7: 23,359,350 (GRCm39) F78L probably benign Het
Zfpm1 A G 8: 123,058,859 (GRCm39) S160G possibly damaging Het
Other mutations in Cenpu
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8829:Cenpu UTSW 8 47,026,496 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16