Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02885:Cenpk'

362970

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 #

IGL02885

Quality Score

Status

Chromosome

Chromosomal Location

104365474-104386130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104385903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

Ref Sequence

ENSEMBL: ENSMUSP00000022227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022227] [ENSMUST00000070761] [ENSMUST00000224500]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022227
AA Change: D266G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: D266G

Domain	Start	End	E-Value	Type
Pfam:CENP-K	47	306	1.5e-124	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070761

SMART Domains

Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714

Domain	Start	End	E-Value	Type
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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,152 (GRCm39)	N683S	probably benign	Het
Ahi1	T	A	10: 20,931,012 (GRCm39)	F46I	possibly damaging	Het
Als2	C	T	1: 59,206,650 (GRCm39)	V1598I	probably benign	Het
Arid1b	A	T	17: 5,392,428 (GRCm39)	D1986V	probably damaging	Het
Bhlhe41	T	A	6: 145,810,989 (GRCm39)	D2V	probably damaging	Het
Borcs6	A	G	11: 68,951,072 (GRCm39)	D150G	possibly damaging	Het
Ccdc88a	G	T	11: 29,398,050 (GRCm39)	R261L	probably damaging	Het
Ccne2	T	A	4: 11,198,723 (GRCm39)		probably benign	Het
Ces2b	T	C	8: 105,561,563 (GRCm39)	V219A	probably damaging	Het
Cpa1	A	G	6: 30,645,169 (GRCm39)	R382G	probably damaging	Het
Cplx4	G	T	18: 66,089,984 (GRCm39)	T145N	probably damaging	Het
Cyp19a1	T	C	9: 54,079,102 (GRCm39)	I269V	probably benign	Het
Dennd3	A	G	15: 73,440,545 (GRCm39)	Y1192C	probably benign	Het
Dpp6	T	C	5: 27,923,471 (GRCm39)	Y694H	probably damaging	Het
Eea1	C	A	10: 95,877,346 (GRCm39)	N1353K	probably benign	Het
Fam111a	T	A	19: 12,561,488 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,442,204 (GRCm39)	S1169P	probably benign	Het
Frk	G	T	10: 34,360,067 (GRCm39)	A23S	probably benign	Het
Fyb2	T	C	4: 104,861,118 (GRCm39)	V594A	probably damaging	Het
Gtpbp3	C	A	8: 71,942,064 (GRCm39)		probably benign	Het
Hoxa5	G	T	6: 52,179,688 (GRCm39)	A229D	probably damaging	Het
Ift25	G	A	4: 107,130,866 (GRCm39)	C52Y	possibly damaging	Het
Igf2r	A	T	17: 12,913,007 (GRCm39)	F1780L	possibly damaging	Het
Jade2	A	T	11: 51,722,123 (GRCm39)	D143E	probably damaging	Het
Kdm1a	T	C	4: 136,279,846 (GRCm39)	I719V	probably benign	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lmx1b	G	T	2: 33,457,216 (GRCm39)	Q206K	probably benign	Het
Lrrtm4	G	A	6: 79,998,786 (GRCm39)	G66D	probably damaging	Het
Myg1	G	T	15: 102,240,594 (GRCm39)	G90C	probably damaging	Het
Nbea	C	T	3: 55,539,407 (GRCm39)	V2785I	probably benign	Het
Ncr1	C	A	7: 4,341,225 (GRCm39)	P35Q	probably damaging	Het
Nos1	T	A	5: 118,033,855 (GRCm39)	C326S	probably damaging	Het
Or12j2	T	C	7: 139,916,072 (GRCm39)	F99S	possibly damaging	Het
Or3a1	G	T	11: 74,225,519 (GRCm39)	H179Q	possibly damaging	Het
Or52r1	A	T	7: 102,537,243 (GRCm39)	V39E	possibly damaging	Het
Pde4d	A	G	13: 110,084,795 (GRCm39)	Y520C	probably damaging	Het
Ppm1d	A	G	11: 85,217,770 (GRCm39)	M178V	possibly damaging	Het
Samd3	G	A	10: 26,147,762 (GRCm39)	R479K	probably benign	Het
Semp2l2b	T	A	10: 21,943,057 (GRCm39)	I308F	possibly damaging	Het
Serpinb6a	A	G	13: 34,102,782 (GRCm39)	V226A	probably benign	Het
Slc26a4	T	C	12: 31,575,475 (GRCm39)	E737G	probably benign	Het
Slc34a3	A	G	2: 25,121,069 (GRCm39)	C340R	probably damaging	Het
Spata31d1b	C	A	13: 59,866,941 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,013 (GRCm39)	V173A	probably benign	Het
Vmn2r66	A	T	7: 84,644,723 (GRCm39)	D562E	probably benign	Het
Zfp395	C	T	14: 65,633,344 (GRCm39)	P451L	probably benign	Het

Other mutations in Cenpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Cenpk	APN	13	104,372,742 (GRCm39)	unclassified	probably benign
IGL03107:Cenpk	APN	13	104,379,280 (GRCm39)	missense	probably damaging	0.99
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

2015-12-18