Incidental Mutation 'IGL03107:Cenpk'
ID 419006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpk
Ensembl Gene ENSMUSG00000021714
Gene Name centromere protein K
Synonyms B130045K24Rik, C530004N04Rik, Solt
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL03107
Quality Score
Status
Chromosome 13
Chromosomal Location 104365474-104386130 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104379280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 203 (I203N)
Ref Sequence ENSEMBL: ENSMUSP00000022227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022227] [ENSMUST00000070761] [ENSMUST00000224500] [ENSMUST00000224857]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022227
AA Change: I203N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: I203N

DomainStartEndE-ValueType
Pfam:CENP-K 47 306 1.5e-124 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000070761
AA Change: I168N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714
AA Change: I168N

DomainStartEndE-ValueType
Pfam:CENP-K 1 231 1.1e-99 PFAM
low complexity region 237 251 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224098
Predicted Effect probably benign
Transcript: ENSMUST00000224500
Predicted Effect probably benign
Transcript: ENSMUST00000224857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225939
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Cenpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Cenpk APN 13 104,372,742 (GRCm39) unclassified probably benign
IGL02885:Cenpk APN 13 104,385,903 (GRCm39) missense probably damaging 0.97
IGL03122:Cenpk APN 13 104,378,885 (GRCm39) missense probably damaging 1.00
R0421:Cenpk UTSW 13 104,378,911 (GRCm39) missense probably benign 0.36
R0423:Cenpk UTSW 13 104,370,733 (GRCm39) missense probably benign 0.00
R1261:Cenpk UTSW 13 104,367,293 (GRCm39) missense possibly damaging 0.90
R1262:Cenpk UTSW 13 104,367,293 (GRCm39) missense possibly damaging 0.90
R2069:Cenpk UTSW 13 104,372,684 (GRCm39) unclassified probably benign
R2105:Cenpk UTSW 13 104,366,105 (GRCm39) nonsense probably null
R2183:Cenpk UTSW 13 104,370,671 (GRCm39) missense probably damaging 0.99
R2509:Cenpk UTSW 13 104,370,675 (GRCm39) splice site probably null
R4625:Cenpk UTSW 13 104,385,901 (GRCm39) missense possibly damaging 0.86
R4755:Cenpk UTSW 13 104,386,020 (GRCm39) missense probably benign 0.06
R4755:Cenpk UTSW 13 104,367,379 (GRCm39) missense probably benign 0.02
R5217:Cenpk UTSW 13 104,385,917 (GRCm39) missense probably damaging 1.00
R5865:Cenpk UTSW 13 104,372,702 (GRCm39) makesense probably null
R6928:Cenpk UTSW 13 104,365,500 (GRCm39) start gained probably benign
R7109:Cenpk UTSW 13 104,367,256 (GRCm39) missense probably benign 0.44
R7444:Cenpk UTSW 13 104,386,025 (GRCm39) makesense probably null
R8870:Cenpk UTSW 13 104,367,365 (GRCm39) missense probably damaging 1.00
R9071:Cenpk UTSW 13 104,378,870 (GRCm39) nonsense probably null
R9514:Cenpk UTSW 13 104,370,682 (GRCm39) missense probably benign 0.12
R9769:Cenpk UTSW 13 104,381,810 (GRCm39) nonsense probably null
Posted On 2016-08-02