Incidental Mutation 'R7109:Cenpk'
ID 551413
Institutional Source Beutler Lab
Gene Symbol Cenpk
Ensembl Gene ENSMUSG00000021714
Gene Name centromere protein K
Synonyms B130045K24Rik, Solt, C530004N04Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R7109 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 104228611-104252392 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104230748 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 31 (K31E)
Ref Sequence ENSEMBL: ENSMUSP00000022227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022226] [ENSMUST00000022227] [ENSMUST00000070761] [ENSMUST00000224500] [ENSMUST00000224857] [ENSMUST00000225557]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022226
SMART Domains Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713

DomainStartEndE-ValueType
WD40 80 117 2.96e-2 SMART
WD40 122 161 8.49e-3 SMART
Blast:WD40 164 207 9e-6 BLAST
WD40 211 251 2.76e0 SMART
WD40 269 308 1.4e-3 SMART
Blast:WD40 343 382 2e-6 BLAST
Blast:WD40 433 460 3e-7 BLAST
Pfam:Pro_isomerase 493 645 1.9e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022227
AA Change: K31E

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: K31E

DomainStartEndE-ValueType
Pfam:CENP-K 47 306 1.5e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070761
SMART Domains Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714

DomainStartEndE-ValueType
Pfam:CENP-K 1 231 1.1e-99 PFAM
low complexity region 237 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224500
Predicted Effect probably benign
Transcript: ENSMUST00000224857
Predicted Effect probably benign
Transcript: ENSMUST00000225557
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T G 2: 151,473,753 K2Q probably damaging Het
Abtb2 T C 2: 103,715,515 Y903H probably benign Het
Adamtsl3 C T 7: 82,611,861 P29S Het
Alcam T A 16: 52,276,829 T355S probably damaging Het
Anapc1 A G 2: 128,674,602 V404A probably benign Het
Bst2 A G 8: 71,537,282 F49S possibly damaging Het
C1qtnf9 G C 14: 60,779,570 W183S probably benign Het
Camsap3 A G 8: 3,598,087 I132V possibly damaging Het
Cchcr1 T A 17: 35,517,941 probably null Het
Cfap221 T C 1: 119,925,571 K798E possibly damaging Het
Copb2 T A 9: 98,581,280 probably null Het
Dennd1a T A 2: 38,048,792 Y102F probably damaging Het
Eif2ak4 C T 2: 118,405,051 P88S probably damaging Het
Epha6 C A 16: 59,682,668 V959F probably damaging Het
Fam193a C A 5: 34,465,821 T1251K possibly damaging Het
Herc1 A T 9: 66,481,889 Q3896L probably benign Het
Ikbip C A 10: 91,083,228 D34E probably benign Het
Insr A G 8: 3,258,481 V185A probably benign Het
Jakmip1 C T 5: 37,174,765 Q930* probably null Het
Klc1 A G 12: 111,776,865 I209V probably benign Het
Lrrk2 T A 15: 91,764,782 L1660M probably damaging Het
Mbd3l1 G T 9: 18,484,914 D112Y possibly damaging Het
Mrps2 T A 2: 28,468,246 V16E probably benign Het
Ncoa1 G A 12: 4,322,978 T141I possibly damaging Het
Ndst2 G T 14: 20,729,843 R110S probably damaging Het
Nlrp2 A G 7: 5,328,617 V260A probably damaging Het
Olfr1425 A G 19: 12,074,212 I140T probably benign Het
Olfr491 A G 7: 108,317,752 N286S probably damaging Het
Olfr575 A T 7: 102,955,253 V116E probably damaging Het
Olfr828 A T 9: 18,815,608 S229T probably benign Het
Pah T C 10: 87,570,286 V262A probably damaging Het
Pcnt T G 10: 76,369,904 E2538A probably damaging Het
Pdxk T A 10: 78,446,976 I162F probably damaging Het
Plod2 T C 9: 92,573,597 F110L probably damaging Het
Pm20d2 A T 4: 33,187,186 L154Q probably damaging Het
Podxl2 C T 6: 88,843,584 V445I possibly damaging Het
Ppp1r3a A T 6: 14,719,236 W560R probably benign Het
Rasal3 A G 17: 32,392,709 S815P probably damaging Het
Rdm1 A G 11: 101,633,828 K196E probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,579,908 probably benign Het
Scn1a T C 2: 66,350,942 D79G possibly damaging Het
Slc22a21 A G 11: 53,979,503 Y119H possibly damaging Het
Stip1 C T 19: 7,021,810 G467S possibly damaging Het
Synrg C A 11: 84,039,672 A1280E possibly damaging Het
Szt2 A G 4: 118,375,479 C2396R unknown Het
Trappc3 A G 4: 126,273,933 N95S probably benign Het
Tulp4 C T 17: 6,231,780 H695Y probably damaging Het
Ush2a T A 1: 188,381,484 D633E probably benign Het
Wasl G A 6: 24,633,187 P151S probably benign Het
Wwp2 A G 8: 107,483,356 N122S probably benign Het
Zfp51 A G 17: 21,463,569 R149G possibly damaging Het
Zfp764 A G 7: 127,404,715 S415P possibly damaging Het
Other mutations in Cenpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Cenpk APN 13 104236234 unclassified probably benign
IGL02885:Cenpk APN 13 104249395 missense probably damaging 0.97
IGL03107:Cenpk APN 13 104242772 missense probably damaging 0.99
IGL03122:Cenpk APN 13 104242377 missense probably damaging 1.00
R0421:Cenpk UTSW 13 104242403 missense probably benign 0.36
R0423:Cenpk UTSW 13 104234225 missense probably benign 0.00
R1261:Cenpk UTSW 13 104230785 missense possibly damaging 0.90
R1262:Cenpk UTSW 13 104230785 missense possibly damaging 0.90
R2069:Cenpk UTSW 13 104236176 unclassified probably benign
R2105:Cenpk UTSW 13 104229597 nonsense probably null
R2183:Cenpk UTSW 13 104234163 missense probably damaging 0.99
R2509:Cenpk UTSW 13 104234167 splice site probably null
R4625:Cenpk UTSW 13 104249393 missense possibly damaging 0.86
R4755:Cenpk UTSW 13 104230871 missense probably benign 0.02
R4755:Cenpk UTSW 13 104249512 missense probably benign 0.06
R5217:Cenpk UTSW 13 104249409 missense probably damaging 1.00
R5865:Cenpk UTSW 13 104236194 makesense probably null
R6928:Cenpk UTSW 13 104228992 start gained probably benign
R7444:Cenpk UTSW 13 104249517 makesense probably null
R8870:Cenpk UTSW 13 104230857 missense probably damaging 1.00
R9071:Cenpk UTSW 13 104242362 nonsense probably null
R9514:Cenpk UTSW 13 104234174 missense probably benign 0.12
R9769:Cenpk UTSW 13 104245302 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCTATTTCTCTGAACCCTGAC -3'
(R):5'- ACGGTTTCTTTCCTAAGTCAATTATGT -3'

Sequencing Primer
(F):5'- ACTGACTCTCCTGTTACAATGGAAC -3'
(R):5'- GAAACTTACATCTTCCATGTCT -3'
Posted On 2019-05-15