Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Cenpk'

346515

Institutional Source

Beutler Lab

Gene Symbol

Cenpk

Ensembl Gene

ENSMUSG00000021714

Gene Name

centromere protein K

Synonyms

B130045K24Rik, Solt, C530004N04Rik

MMRRC Submission

041890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R4625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104228611-104252392 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104249393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 265 (H265Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022227 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022227
AA Change: H265Q

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022227
Gene: ENSMUSG00000021714
AA Change: H265Q

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

Meta Mutation Damage Score

0.1380

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (75/77)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 145,044,883	E176A	possibly damaging	Het
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
4933417A18Rik	G	A	13: 34,932,465	G66S	probably damaging	Het
5830473C10Rik	G	T	5: 90,571,752	V236L	probably damaging	Het
Abcc2	A	G	19: 43,803,739	I320V	probably benign	Het
Abtb1	C	T	6: 88,836,287	A466T	probably benign	Het
Ak6	C	A	13: 100,655,673	T208K	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Anapc15	T	A	7: 101,901,032		probably benign	Het
Aspn	A	G	13: 49,557,425	D182G	probably benign	Het
Astn1	A	T	1: 158,580,294	D607V	probably damaging	Het
Btnl1	A	G	17: 34,379,751	I114V	probably null	Het
Ccdc159	A	G	9: 21,929,466	S110G	probably benign	Het
Ccdc94	T	A	17: 55,964,598	L173Q	probably damaging	Het
Cdh18	A	C	15: 22,714,042		probably benign	Het
Cdh22	A	G	2: 165,112,606	I665T	probably damaging	Het
Chd6	A	G	2: 160,969,492	L1397P	probably damaging	Het
Chia1	A	C	3: 106,128,940	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,915,585	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,404,120	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,463,661	S2244P	probably damaging	Het
Fshr	T	C	17: 88,985,720	Y510C	probably damaging	Het
Gm21188	G	T	13: 120,035,229	R35S	possibly damaging	Het
Gm5087	T	C	14: 13,158,798		noncoding transcript	Het
Gm7135	A	C	1: 97,459,626		noncoding transcript	Het
Hnrnpll	A	T	17: 80,050,862	Y153*	probably null	Het
Htt	T	A	5: 34,829,785	V1116E	probably damaging	Het
Ikzf5	A	T	7: 131,393,753		probably null	Het
Kcnb1	A	G	2: 167,188,233	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Kif1a	A	T	1: 93,042,659	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370	V247A	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lamc1	A	G	1: 153,242,696	S910P	probably benign	Het
Lin9	T	A	1: 180,689,280	N512K	probably damaging	Het
Mettl7a1	A	T	15: 100,313,058	Q170L	probably damaging	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,386,714	V174A	probably benign	Het
Myo1g	T	C	11: 6,512,240	E574G	probably damaging	Het
Nphp3	G	A	9: 104,036,159	G997R	possibly damaging	Het
Obscn	A	G	11: 59,067,258	C3748R	probably damaging	Het
Olfr346	A	G	2: 36,688,071	D23G	probably benign	Het
Olfr466	T	A	13: 65,152,860	V212D	possibly damaging	Het
Olfr494	T	C	7: 108,367,688	L66P	probably damaging	Het
Olfr945	A	T	9: 39,258,318	M118K	probably damaging	Het
Orc5	G	T	5: 22,548,005	F10L	probably benign	Het
Ptch1	T	C	13: 63,523,164	T851A	probably benign	Het
Ranbp6	A	T	19: 29,810,863	Y696*	probably null	Het
Rbp3	A	G	14: 33,956,099	Q668R	probably benign	Het
Rfwd3	T	C	8: 111,276,358	T611A	probably benign	Het
Rhcg	T	A	7: 79,601,604	D219V	probably damaging	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Slc25a26	G	T	6: 94,507,652	V58F	probably damaging	Het
Smarca5	T	A	8: 80,710,563	K721N	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Speer2	A	T	16: 69,858,754	Y61*	probably null	Het
Spef2	T	C	15: 9,647,438	Y961C	probably damaging	Het
Sptb	C	A	12: 76,587,326		probably null	Het
Svep1	T	G	4: 58,072,698	N2204H	probably damaging	Het
Tmem86a	C	A	7: 47,052,865	P13T	probably damaging	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Tox2	G	A	2: 163,314,416	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,962	E762D	probably benign	Het
Tshb	C	T	3: 102,778,145		probably null	Het
Ttc3	T	A	16: 94,388,272	L163*	probably null	Het
Twsg1	G	T	17: 65,929,551	D161E	probably benign	Het
Uchl4	A	C	9: 64,235,798	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,048,181	W9R	probably benign	Het
Zfp14	G	A	7: 30,038,595	Q322*	probably null	Het
Znhit3	G	A	11: 84,911,490	P145S	probably damaging	Het

Other mutations in Cenpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Cenpk	APN	13	104236234	unclassified	probably benign
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
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
R8870:Cenpk	UTSW	13	104230857	missense	probably damaging	1.00
R9071:Cenpk	UTSW	13	104242362	nonsense	probably null
R9514:Cenpk	UTSW	13	104234174	missense	probably benign	0.12
R9769:Cenpk	UTSW	13	104245302	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCAGCTGTATTCTACACTTGATG -3'
(R):5'- CCATGGGTGTAAAGATTCCGTAC -3'

Sequencing Primer
(F):5'- TTATGCTCAAAGAAGTAGGAAAGTTG -3'
(R):5'- AAGATTCCGTACTGTGTGAAAAC -3'

Posted On

2015-09-25