Mutagenetix > Incidental Mutation

Incidental Mutation 'R9071:Cenpk'

689558

Institutional Source

Beutler Lab

Gene Symbol

Cenpk

Ensembl Gene

ENSMUSG00000021714

Gene Name

centromere protein K

Synonyms

B130045K24Rik, C530004N04Rik, Solt

MMRRC Submission

068893-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R9071 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104365474-104386130 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 104378870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 164 (Q164*)

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 null
Transcript: ENSMUST00000022227
AA Change: Q164*

SMART Domains

Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: Q164*

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

Predicted Effect

probably null
Transcript: ENSMUST00000070761
AA Change: Q129*

SMART Domains

Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714
AA Change: Q129*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	T	7: 41,274,783 (GRCm39)	R162L	probably benign	Het
Alpi	A	G	1: 87,026,584 (GRCm39)	V469A	probably damaging	Het
Amotl2	G	T	9: 102,595,892 (GRCm39)		probably benign	Het
Ano3	T	A	2: 110,625,418 (GRCm39)		probably null	Het
Atg16l1	G	T	1: 87,683,907 (GRCm39)		probably benign	Het
Atg2b	C	A	12: 105,625,099 (GRCm39)	E626*	probably null	Het
B3galt9	T	C	2: 34,728,435 (GRCm39)	V78A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc162	G	A	10: 41,457,174 (GRCm39)	Q1588*	probably null	Het
Cd3d	A	T	9: 44,896,340 (GRCm39)	H43L	probably benign	Het
Clybl	C	A	14: 122,608,697 (GRCm39)	D96E	probably benign	Het
Cog1	T	C	11: 113,546,939 (GRCm39)	V511A	probably damaging	Het
Crhr1	T	A	11: 104,064,133 (GRCm39)	I282N	probably damaging	Het
Crybg2	A	G	4: 133,818,542 (GRCm39)	N1433D	probably damaging	Het
Cspp1	A	T	1: 10,159,121 (GRCm39)	I516F	possibly damaging	Het
Cul9	T	C	17: 46,837,379 (GRCm39)	T1030A	probably benign	Het
Cyp2d10	T	C	15: 82,288,361 (GRCm39)	T313A	probably damaging	Het
Ddx11	T	A	17: 66,450,736 (GRCm39)	N549K	probably damaging	Het
Ddx41	A	G	13: 55,680,219 (GRCm39)	V391A	probably damaging	Het
Eif3a	T	C	19: 60,751,634 (GRCm39)	D1227G	unknown	Het
Fam83f	T	C	15: 80,576,206 (GRCm39)	Y286H	probably damaging	Het
Fasn	T	C	11: 120,708,324 (GRCm39)	D647G	probably damaging	Het
Fat4	T	C	3: 39,037,598 (GRCm39)	V3750A	probably benign	Het
Golga2	T	C	2: 32,178,364 (GRCm39)	S14P	probably damaging	Het
Hgsnat	A	G	8: 26,436,302 (GRCm39)	V584A	possibly damaging	Het
Ifi207	A	T	1: 173,557,764 (GRCm39)	F325I	unknown	Het
Igfals	A	T	17: 25,099,670 (GRCm39)	I254F	probably damaging	Het
Matr3	T	C	18: 35,705,803 (GRCm39)	Y243H	possibly damaging	Het
Mki67	G	C	7: 135,301,205 (GRCm39)	D1276E	probably benign	Het
Moap1	T	A	12: 102,709,364 (GRCm39)	K62*	probably null	Het
Msto1	C	A	3: 88,812,414 (GRCm39)		probably benign	Het
Myt1	A	T	2: 181,448,420 (GRCm39)	D697V	possibly damaging	Het
Nampt	T	A	12: 32,892,781 (GRCm39)	V356E	probably damaging	Het
Nell2	T	A	15: 95,244,682 (GRCm39)	K472*	probably null	Het
Nfe2l3	A	C	6: 51,434,243 (GRCm39)	S268R	probably benign	Het
Or8b43	T	C	9: 38,361,032 (GRCm39)	I288T	possibly damaging	Het
Osbpl10	G	T	9: 114,890,908 (GRCm39)	V99L	probably benign	Het
Plod2	A	G	9: 92,485,048 (GRCm39)	I537M	probably benign	Het
Prdm4	A	G	10: 85,729,076 (GRCm39)	L770P	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Scaper	T	C	9: 55,771,803 (GRCm39)	D371G	probably benign	Het
Sema3e	A	G	5: 14,282,154 (GRCm39)	K430R	probably benign	Het
Sez6l	A	T	5: 112,573,603 (GRCm39)		probably benign	Het
Slco1a5	A	T	6: 142,196,052 (GRCm39)	I317N	possibly damaging	Het
Spata4	T	G	8: 55,055,742 (GRCm39)	F211C	probably damaging	Het
Sspo	A	G	6: 48,433,982 (GRCm39)	E929G	probably benign	Het
Sult1e1	A	C	5: 87,735,681 (GRCm39)		probably benign	Het
Tas2r125	A	T	6: 132,887,400 (GRCm39)	N263Y	probably benign	Het
Ugt3a1	T	A	15: 9,370,224 (GRCm39)	L456*	probably null	Het
Wdr20rt	G	A	12: 65,274,222 (GRCm39)	V562I	probably benign	Het
Zc3h7b	T	C	15: 81,677,964 (GRCm39)	*983Q	probably null	Het
Zfp28	T	A	7: 6,397,544 (GRCm39)	C660S	probably 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
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
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'- GGCTTCCACATTGAGACATTC -3'
(R):5'- GTAATACTTAGGACCACCTTTTCTGC -3'

Sequencing Primer
(F):5'- GCTTCCACATTGAGACATTCTAGATC -3'
(R):5'- GACTCAGTTAATGTTACCACCT -3'

Posted On

2021-11-19