Mutagenetix > Incidental Mutation

Incidental Mutation 'R6928:Cenpk'

539861

Institutional Source

Beutler Lab

Gene Symbol

Cenpk

Ensembl Gene

ENSMUSG00000021714

Gene Name

centromere protein K

Synonyms

B130045K24Rik, C530004N04Rik, Solt

MMRRC Submission

045045-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104365474-104386130 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 104365500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153237 (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

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714

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

probably benign
Transcript: ENSMUST00000224500

Predicted Effect

probably benign
Transcript: ENSMUST00000224857

Predicted Effect

probably benign
Transcript: ENSMUST00000225557

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,456,257 (GRCm39)	D215G	possibly damaging	Het
Asb3	A	T	11: 30,948,326 (GRCm39)	M40L	probably damaging	Het
Aspg	G	A	12: 112,093,123 (GRCm39)	V547M	possibly damaging	Het
Aspm	T	A	1: 139,407,944 (GRCm39)	L2277*	probably null	Het
Atp7b	A	G	8: 22,484,828 (GRCm39)	S1295P	probably benign	Het
Cdca2	A	G	14: 67,943,193 (GRCm39)	S199P	probably damaging	Het
Cdh1	A	G	8: 107,387,642 (GRCm39)	E514G	possibly damaging	Het
Col6a5	C	A	9: 105,817,118 (GRCm39)	V398L	unknown	Het
Colec10	A	T	15: 54,326,002 (GRCm39)	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Cspg4	T	A	9: 56,805,164 (GRCm39)	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,641,683 (GRCm39)	R333L	probably benign	Het
Espl1	C	T	15: 102,207,342 (GRCm39)	R269C	probably benign	Het
Esr2	C	T	12: 76,212,252 (GRCm39)	C188Y	probably damaging	Het
Focad	A	G	4: 88,267,112 (GRCm39)	D1041G	unknown	Het
Frem3	T	C	8: 81,337,911 (GRCm39)	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,139,634 (GRCm39)	V212A	probably damaging	Het
Gzmb	T	C	14: 56,497,734 (GRCm39)	K169E	probably benign	Het
Hexd	T	A	11: 121,102,880 (GRCm39)	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,718,269 (GRCm39)	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372 (GRCm39)	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,253,190 (GRCm39)	S177P	probably benign	Het
Lrriq1	A	T	10: 103,050,800 (GRCm39)	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,340,593 (GRCm39)		probably null	Het
Mib1	T	G	18: 10,802,282 (GRCm39)	S870A	probably benign	Het
Moap1	T	A	12: 102,708,871 (GRCm39)	N226I	probably damaging	Het
Moxd1	T	A	10: 24,176,186 (GRCm39)	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,781,042 (GRCm39)	V16A	probably benign	Het
Nme1	T	C	11: 93,850,229 (GRCm39)	Y151C	probably damaging	Het
Nwd1	T	C	8: 73,408,653 (GRCm39)	F879L	probably benign	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or52ac1	A	T	7: 104,245,796 (GRCm39)	Y197*	probably null	Het
Or5ac25	C	A	16: 59,181,826 (GRCm39)	G252C	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b99	A	G	19: 12,977,202 (GRCm39)	N284S	probably damaging	Het
Or8d23	T	C	9: 38,841,862 (GRCm39)	Y132H	probably damaging	Het
Or8g21	T	C	9: 38,905,928 (GRCm39)	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,647,474 (GRCm39)	E201G	probably damaging	Het
Plscr1	T	C	9: 92,152,004 (GRCm39)	V301A	possibly damaging	Het
Psg28	A	T	7: 18,157,003 (GRCm39)	S411T	possibly damaging	Het
Rif1	T	C	2: 51,985,973 (GRCm39)	W653R	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rtn4	A	G	11: 29,656,791 (GRCm39)	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,763,344 (GRCm39)	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,160,382 (GRCm39)	I524T	probably damaging	Het
Speer4a2	A	G	5: 26,290,586 (GRCm39)		probably null	Het
Spg11	C	T	2: 121,900,385 (GRCm39)	V1556I	probably benign	Het
Spopfm1	T	A	3: 94,173,855 (GRCm39)	C288S	probably benign	Het
Srebf2	C	T	15: 82,087,924 (GRCm39)	R215*	probably null	Het
Tdpoz8	G	A	3: 92,981,267 (GRCm39)	C95Y	probably damaging	Het
Tmem19	T	C	10: 115,183,179 (GRCm39)	N147S	possibly damaging	Het
Tpr	T	C	1: 150,284,536 (GRCm39)	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,310,618 (GRCm39)	T53I	probably damaging	Het
Trf	T	A	9: 103,099,307 (GRCm39)	R168W	possibly damaging	Het
Trim11	A	G	11: 58,879,669 (GRCm39)	K273R	probably damaging	Het
Tsacc	T	A	3: 88,190,247 (GRCm39)	M68L	probably benign	Het
Ttn	T	A	2: 76,584,869 (GRCm39)	M22110L	probably benign	Het
Zfp160	G	T	17: 21,261,724 (GRCm39)	G104V	probably benign	Het
Zfp582	T	C	7: 6,357,266 (GRCm39)	Y360H	probably damaging	Het
Zranb1	G	A	7: 132,568,323 (GRCm39)	R301H	possibly damaging	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
IGL02885:Cenpk	APN	13	104,385,903 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- TTAGAAGAGACGCGACGACC -3'
(R):5'- TGGGAGGCCACCTTATAAATTAC -3'

Sequencing Primer
(F):5'- CGAGTGAACTAGGTTTCCCC -3'
(R):5'- CAGGTAGGTTCTAGAACAGCATTG -3'

Posted On

2018-11-06