Incidental Mutation 'IGL02392:Cenph'
ID 294254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenph
Ensembl Gene ENSMUSG00000045273
Gene Name centromere protein H
Synonyms 2610042E16Rik, CENP-H, 2410018A12Rik, ENP, 2810046K12Rik, 1700021I11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02392
Quality Score
Status
Chromosome 13
Chromosomal Location 100896182-100912407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100909269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 46 (Q46L)
Ref Sequence ENSEMBL: ENSMUSP00000074988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075550]
AlphaFold Q9QYM8
Predicted Effect probably benign
Transcript: ENSMUST00000075550
AA Change: Q46L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074988
Gene: ENSMUSG00000045273
AA Change: Q46L

DomainStartEndE-ValueType
coiled coil region 63 101 N/A INTRINSIC
Pfam:CENP-H 133 233 1.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136694
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
C2cd6 T C 1: 59,133,997 (GRCm39) N8S probably benign Het
Cdh8 G A 8: 99,757,387 (GRCm39) T737M probably damaging Het
Celsr3 T C 9: 108,711,920 (GRCm39) probably benign Het
Dlg5 A G 14: 24,200,277 (GRCm39) C1395R probably damaging Het
Dnah8 C T 17: 31,037,025 (GRCm39) probably benign Het
Dolk T C 2: 30,175,740 (GRCm39) N102D probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Farp2 G A 1: 93,505,372 (GRCm39) R368Q probably damaging Het
Fermt3 A T 19: 6,996,183 (GRCm39) M4K probably benign Het
Fndc8 A C 11: 82,789,429 (GRCm39) T196P probably damaging Het
Galc G A 12: 98,173,672 (GRCm39) T630I probably damaging Het
Gm21970 T G 16: 91,211,545 (GRCm39) S128A possibly damaging Het
Gpr146 T C 5: 139,378,533 (GRCm39) S112P probably damaging Het
Grip2 A G 6: 91,764,276 (GRCm39) S51P probably damaging Het
Htra2 G T 6: 83,031,280 (GRCm39) T43N possibly damaging Het
Lnpep T C 17: 17,799,445 (GRCm39) Y70C possibly damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mtdh A T 15: 34,099,723 (GRCm39) N158Y probably damaging Het
Neo1 A T 9: 58,833,094 (GRCm39) H550Q possibly damaging Het
Or2h1b C T 17: 37,461,979 (GRCm39) V295I probably benign Het
Or5p57 A C 7: 107,665,710 (GRCm39) F68L probably benign Het
Pex1 C T 5: 3,655,952 (GRCm39) Q260* probably null Het
Pex6 T C 17: 47,034,425 (GRCm39) V758A probably damaging Het
Qsox1 T C 1: 155,688,346 (GRCm39) E67G probably damaging Het
Rimbp2 C T 5: 128,848,861 (GRCm39) S895N probably benign Het
Rnls A G 19: 33,180,012 (GRCm39) V28A possibly damaging Het
Spidr T C 16: 15,707,494 (GRCm39) *934W probably null Het
Spta1 A T 1: 174,046,380 (GRCm39) M1654L probably damaging Het
Srbd1 C A 17: 86,295,801 (GRCm39) V870F probably benign Het
Suco A T 1: 161,662,136 (GRCm39) M765K probably benign Het
Taok1 A G 11: 77,440,178 (GRCm39) Y610H probably benign Het
Thbs1 A G 2: 117,945,141 (GRCm39) N238S probably benign Het
Them7 T A 2: 105,209,220 (GRCm39) L180* probably null Het
Trim45 A G 3: 100,832,621 (GRCm39) I285V probably benign Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Ttn A G 2: 76,601,887 (GRCm39) S10265P probably damaging Het
Vgll3 A T 16: 65,612,556 (GRCm39) Y13F probably damaging Het
Ylpm1 T A 12: 85,061,731 (GRCm39) M544K unknown Het
Ypel1 T C 16: 16,906,702 (GRCm39) T500A probably benign Het
Zmym1 T A 4: 126,942,256 (GRCm39) S711C probably damaging Het
Other mutations in Cenph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02202:Cenph APN 13 100,898,381 (GRCm39) missense probably benign 0.08
R0544:Cenph UTSW 13 100,909,249 (GRCm39) missense probably damaging 0.99
R2507:Cenph UTSW 13 100,907,744 (GRCm39) missense probably benign 0.00
R3974:Cenph UTSW 13 100,900,075 (GRCm39) missense probably damaging 0.97
R5251:Cenph UTSW 13 100,898,348 (GRCm39) missense possibly damaging 0.79
R5333:Cenph UTSW 13 100,898,280 (GRCm39) missense probably benign 0.02
R6692:Cenph UTSW 13 100,909,243 (GRCm39) missense probably benign 0.01
R7143:Cenph UTSW 13 100,898,285 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16