Incidental Mutation 'R5333:Cenph'
ID 423369
Institutional Source Beutler Lab
Gene Symbol Cenph
Ensembl Gene ENSMUSG00000045273
Gene Name centromere protein H
Synonyms 2610042E16Rik, CENP-H, 2410018A12Rik, ENP, 2810046K12Rik, 1700021I11Rik
MMRRC Submission 042915-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5333 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 100896182-100912407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100898280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 208 (H208N)
Ref Sequence ENSEMBL: ENSMUSP00000074988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075550]
AlphaFold Q9QYM8
Predicted Effect probably benign
Transcript: ENSMUST00000075550
AA Change: H208N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000074988
Gene: ENSMUSG00000045273
AA Change: H208N

DomainStartEndE-ValueType
coiled coil region 63 101 N/A INTRINSIC
Pfam:CENP-H 133 233 1.3e-27 PFAM
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abca14 T A 7: 119,888,769 (GRCm39) Y1238* probably null Het
Abcb5 A T 12: 118,831,677 (GRCm39) V1225D probably damaging Het
Arhgef15 A G 11: 68,838,022 (GRCm39) probably benign Het
As3mt A G 19: 46,696,635 (GRCm39) R58G probably null Het
Asap1 T G 15: 63,999,263 (GRCm39) N525T possibly damaging Het
Bhmt2 A G 13: 93,807,938 (GRCm39) V50A probably benign Het
Bpnt2 A C 4: 4,767,963 (GRCm39) V271G possibly damaging Het
Ccdc180 A T 4: 45,890,935 (GRCm39) I36F possibly damaging Het
Cd209c A G 8: 3,994,976 (GRCm39) S63P probably damaging Het
Cdc37 T C 9: 21,054,457 (GRCm39) E56G possibly damaging Het
Cdkal1 T C 13: 29,510,135 (GRCm39) Y541C probably benign Het
Cfap65 A T 1: 74,942,334 (GRCm39) L1740Q probably benign Het
Cfap74 A G 4: 155,521,197 (GRCm39) D623G probably damaging Het
Ckap4 C A 10: 84,363,474 (GRCm39) V530L probably damaging Het
Cldn13 A T 5: 134,943,869 (GRCm39) N105K probably benign Het
Ddn T C 15: 98,703,237 (GRCm39) D685G possibly damaging Het
Fdxr T C 11: 115,163,084 (GRCm39) I70V probably benign Het
Fn1 A T 1: 71,663,339 (GRCm39) Y1050N probably damaging Het
Iqcf3 A G 9: 106,430,860 (GRCm39) I96T possibly damaging Het
Itgax A G 7: 127,741,455 (GRCm39) Y822C probably damaging Het
Katnb1 A T 8: 95,822,234 (GRCm39) I286L possibly damaging Het
Lrp2 A C 2: 69,355,572 (GRCm39) I424R probably benign Het
Lrpprc C A 17: 85,097,821 (GRCm39) A41S probably benign Het
Mast3 A G 8: 71,236,145 (GRCm39) L761P probably benign Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mpp4 C A 1: 59,196,600 (GRCm39) R44L probably benign Het
Nalf1 T A 8: 9,820,762 (GRCm39) Q86L possibly damaging Het
Nkain3 T A 4: 20,484,889 (GRCm39) M63L probably benign Het
Nup88 A C 11: 70,835,842 (GRCm39) probably benign Het
Obscn A T 11: 58,953,518 (GRCm39) C3837S probably damaging Het
Ogdh T G 11: 6,302,126 (GRCm39) L850V probably damaging Het
Or4f17-ps1 A G 2: 111,358,048 (GRCm39) I148V probably benign Het
Or5w11 A G 2: 87,459,458 (GRCm39) Y217C probably damaging Het
Panx2 T C 15: 88,952,742 (GRCm39) I411T possibly damaging Het
Papss1 T A 3: 131,348,805 (GRCm39) M585K probably damaging Het
Pcbp2 T G 15: 102,394,456 (GRCm39) L180R possibly damaging Het
Pcdha7 A T 18: 37,107,619 (GRCm39) T215S probably benign Het
Pcdhga4 C T 18: 37,818,477 (GRCm39) R9C probably benign Het
Plin4 A G 17: 56,411,970 (GRCm39) V687A probably benign Het
Potefam1 A T 2: 111,024,682 (GRCm39) Y61N possibly damaging Het
Psma6 A G 12: 55,454,213 (GRCm39) probably benign Het
Rcn1 A T 2: 105,219,471 (GRCm39) S241T probably benign Het
Scgb2b18 A T 7: 32,872,700 (GRCm39) L35H probably damaging Het
Slc11a1 A C 1: 74,423,304 (GRCm39) D385A probably damaging Het
Stk31 T A 6: 49,446,086 (GRCm39) C930S probably benign Het
Syt10 T A 15: 89,725,932 (GRCm39) Q14L probably benign Het
Tnxb T G 17: 34,909,205 (GRCm39) W1578G probably damaging Het
Triml1 C T 8: 43,583,327 (GRCm39) A425T possibly damaging Het
Vil1 G A 1: 74,471,549 (GRCm39) V777I probably benign Het
Vmn1r175 T C 7: 23,508,004 (GRCm39) I208V possibly damaging Het
Other mutations in Cenph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02202:Cenph APN 13 100,898,381 (GRCm39) missense probably benign 0.08
IGL02392:Cenph APN 13 100,909,269 (GRCm39) missense probably benign 0.35
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
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
Predicted Primers PCR Primer
(F):5'- ATTGGCGTACAGAAGAGACAC -3'
(R):5'- GGCAGAACTACTTAGATTCTGTCT -3'

Sequencing Primer
(F):5'- ATGCACATAGTCCTGAGCTG -3'
(R):5'- GTAAACATACAAACACACACATACAG -3'
Posted On 2016-08-04