Incidental Mutation 'IGL01140:Cenpk'
ID52610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpk
Ensembl Gene ENSMUSG00000021714
Gene Namecentromere protein K
SynonymsB130045K24Rik, Solt, C530004N04Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.816) question?
Stock #IGL01140
Quality Score
Status
Chromosome13
Chromosomal Location104228611-104252392 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 104236234 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022227] [ENSMUST00000070761] [ENSMUST00000224500] [ENSMUST00000224857] [ENSMUST00000225557]
Predicted Effect probably benign
Transcript: ENSMUST00000022227
SMART Domains Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714

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 noncoding transcript
Transcript: ENSMUST00000224098
Predicted Effect probably benign
Transcript: ENSMUST00000224500
Predicted Effect probably benign
Transcript: ENSMUST00000224857
Predicted Effect probably benign
Transcript: ENSMUST00000225557
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,524,867 E187G probably damaging Het
Asap2 T C 12: 21,206,316 V205A probably damaging Het
Atg16l1 A G 1: 87,774,853 I279V probably benign Het
Atp2b2 C T 6: 113,789,971 V436I possibly damaging Het
Cald1 T A 6: 34,762,261 S640T possibly damaging Het
Cdc23 A G 18: 34,636,332 Y460H probably benign Het
Ctss A G 3: 95,538,725 E52G probably damaging Het
Cuzd1 A T 7: 131,311,794 C365S probably damaging Het
Cyp2c55 T C 19: 39,018,649 L163P probably benign Het
Cyp4f37 T C 17: 32,629,053 S182P probably benign Het
Flt4 G T 11: 49,634,943 E740* probably null Het
Galntl6 T A 8: 57,958,322 R291S probably damaging Het
Hydin G A 8: 110,398,062 V568I probably benign Het
Kcnab3 A G 11: 69,329,879 K145R probably benign Het
Lama1 T C 17: 67,802,933 V2183A probably benign Het
Lrmda C T 14: 22,596,517 A75V possibly damaging Het
Mbtd1 A G 11: 93,924,432 E282G probably damaging Het
Muc19 A T 15: 91,899,399 noncoding transcript Het
Mug1 A G 6: 121,882,734 T1231A probably benign Het
Nkpd1 A G 7: 19,523,462 T389A possibly damaging Het
Nudt19 A G 7: 35,547,911 *358Q probably null Het
Nup160 G T 2: 90,700,565 M522I possibly damaging Het
Obsl1 T A 1: 75,489,756 probably benign Het
Olfr1475 G A 19: 13,479,787 T137I possibly damaging Het
Olfr734 T A 14: 50,320,275 I187F probably damaging Het
Olfr994 T C 2: 85,430,140 T230A probably benign Het
Osbpl10 C T 9: 115,176,002 P341S probably benign Het
Papola C A 12: 105,809,597 C7* probably null Het
Pld1 C A 3: 28,078,237 L525I probably benign Het
Prom2 T C 2: 127,531,205 probably benign Het
Psmb5 G A 14: 54,617,807 T62I possibly damaging Het
Sag A G 1: 87,823,364 E184G probably benign Het
Slc16a10 T C 10: 40,076,925 Y191C probably damaging Het
Slc22a22 T C 15: 57,263,338 T93A probably damaging Het
Ssx2ip A G 3: 146,427,843 Y231C probably benign Het
Trib1 A G 15: 59,651,627 Y170C probably damaging Het
Trmt10a G A 3: 138,156,698 probably benign Het
Troap G T 15: 99,082,146 Q402H probably damaging Het
Ttc30a1 A G 2: 75,979,915 V608A probably benign Het
Vmn2r70 G A 7: 85,565,171 Q258* probably null Het
Zfp128 A G 7: 12,891,022 Y439C probably benign Het
Zmym1 A G 4: 127,049,642 F318L probably damaging Het
Zswim2 A G 2: 83,915,328 S589P probably benign Het
Other mutations in Cenpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7109:Cenpk UTSW 13 104230748 missense probably benign 0.44
R7444:Cenpk UTSW 13 104249517 makesense probably null
Posted On2013-06-21