Mutagenetix > Incidental Mutation

Incidental Mutation 'R1262:Cenpk'

151629

Institutional Source

Beutler Lab

Gene Symbol

Cenpk

Ensembl Gene

ENSMUSG00000021714

Gene Name

centromere protein K

Synonyms

B130045K24Rik, C530004N04Rik, Solt

MMRRC Submission

039329-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R1262 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104365474-104386130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104367293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 43 (V43E)

Ref Sequence

ENSEMBL: ENSMUSP00000022227 (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

possibly damaging
Transcript: ENSMUST00000022227
AA Change: V43E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: V43E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070761
AA Change: V8E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070910
Gene: ENSMUSG00000021714
AA Change: V8E

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: ENSMUST00000223755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224179

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224500
AA Change: V8E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224857
AA Change: V8E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225557
AA Change: V8E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225798

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,470 (GRCm39)	V114A	probably benign	Het
BC048679	A	G	7: 81,145,089 (GRCm39)	F85L	probably benign	Het
Btbd7	A	G	12: 102,754,210 (GRCm39)	I852T	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cyp2b10	C	T	7: 25,614,836 (GRCm39)	T281M	probably benign	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Nipsnap3b	G	T	4: 53,015,166 (GRCm39)	G71V	probably damaging	Het
Or51b6b	G	A	7: 103,309,648 (GRCm39)	P270S	probably benign	Het
Or52h1	A	G	7: 103,828,623 (GRCm39)		probably null	Het
Snx25	T	A	8: 46,558,328 (GRCm39)	R80S	probably damaging	Het
Syt6	A	T	3: 103,492,656 (GRCm39)		probably null	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Ttc7	C	T	17: 87,648,364 (GRCm39)	T521I	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTATTTCTCTGAACCCTGACCCC -3'
(R):5'- GCGGAAACTAACACGGTTTCTTTCCTA -3'

Sequencing Primer
(F):5'- tcttaccaatacatctcctcacc -3'
(R):5'- ACGGTTTCTTTCCTAAGTCAATTATG -3'

Posted On

2014-01-29