Mutagenetix > Incidental Mutation

Incidental Mutation 'R6395:Cenpc1'

514708

Institutional Source

Beutler Lab

Gene Symbol

Cenpc1

Ensembl Gene

ENSMUSG00000029253

Gene Name

centromere protein C1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86159883-86213442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86183429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 453 (N453K)

Ref Sequence

ENSEMBL: ENSMUSP00000031170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031170]

AlphaFold

P49452

Predicted Effect

probably benign
Transcript: ENSMUST00000031170
AA Change: N453K

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: N453K

Domain	Start	End	E-Value	Type
Pfam:CENP_C_N	7	121	6.1e-42	PFAM
Pfam:CENP_C_N	115	261	2.6e-46	PFAM
Pfam:CENP-C_mid	265	519	5.4e-100	PFAM
PDB:4INM\|W	700	724	5e-9	PDB
Pfam:CENP-C_C	819	903	3.9e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a centromeric protein component of a nucleosome-associated complex that plays a central role in kinetochore protein assembly, mitotic progression and chromosome segregation. The human ortholog encodes a protein with DNA-binding activity, that associates constitutively to kinetochores throughout the cell cycle, as part of a prekinetochore complex, together with centromeric protein-A and centromeric protein-B. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	C	A	2: 113,879,731 (GRCm39)	E243*	probably null	Het
Ahi1	T	C	10: 20,855,491 (GRCm39)	I600T	possibly damaging	Het
Apob	A	G	12: 8,058,507 (GRCm39)	T2330A	probably benign	Het
Cabin1	A	T	10: 75,582,576 (GRCm39)	M280K	probably benign	Het
Ccdc117	T	C	11: 5,484,762 (GRCm39)		probably null	Het
Cct8	G	T	16: 87,283,364 (GRCm39)	Y292*	probably null	Het
Celf1	A	G	2: 90,834,203 (GRCm39)	I165V	probably benign	Het
Chst10	T	C	1: 38,910,770 (GRCm39)	I131M	probably damaging	Het
Cltc	A	G	11: 86,616,006 (GRCm39)	I420T	probably damaging	Het
Cspg4b	T	G	13: 113,506,003 (GRCm39)	C2377W	probably damaging	Het
Dact3	A	C	7: 16,617,086 (GRCm39)	Q95P	probably damaging	Het
Dennd2c	T	C	3: 103,056,540 (GRCm39)		probably null	Het
Dock2	G	T	11: 34,182,874 (GRCm39)	H1586Q	probably damaging	Het
Dst	T	C	1: 34,221,771 (GRCm39)	M2525T	probably benign	Het
Egflam	T	C	15: 7,261,176 (GRCm39)	H786R	probably damaging	Het
Eml6	T	C	11: 29,759,321 (GRCm39)	T811A	probably benign	Het
Epha1	T	C	6: 42,343,106 (GRCm39)	T148A	probably damaging	Het
Fsip1	A	C	2: 118,067,406 (GRCm39)	S306A	probably damaging	Het
Gga2	A	T	7: 121,607,661 (GRCm39)		probably null	Het
Gm10801	C	CGTT	2: 98,494,152 (GRCm39)		probably benign	Het
Gm9837	T	A	11: 53,360,885 (GRCm39)		probably benign	Het
Gnl2	A	T	4: 124,940,058 (GRCm39)	Q310L	probably damaging	Het
H2-M1	T	C	17: 36,982,701 (GRCm39)	D53G	probably benign	Het
Hmcn2	T	A	2: 31,259,269 (GRCm39)	D1036E	probably damaging	Het
Htr3a	A	T	9: 48,811,871 (GRCm39)	D381E	probably benign	Het
Igdcc4	G	A	9: 65,042,400 (GRCm39)	G106R	probably damaging	Het
Igfbp2	A	G	1: 72,864,078 (GRCm39)	T114A	probably damaging	Het
Ints14	A	G	9: 64,885,406 (GRCm39)		probably null	Het
Kcnt1	T	A	2: 25,799,251 (GRCm39)	M906K	possibly damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lars2	A	G	9: 123,200,990 (GRCm39)	Q18R	probably benign	Het
Mndal	C	T	1: 173,698,999 (GRCm39)	C222Y	possibly damaging	Het
Msto1	C	T	3: 88,812,781 (GRCm39)	A1854V	possibly damaging	Het
Musk	G	A	4: 58,286,169 (GRCm39)	G20R	probably benign	Het
Or6c215	G	T	10: 129,638,013 (GRCm39)	P127Q	probably damaging	Het
Oxct1	G	T	15: 4,056,309 (GRCm39)	S19I	possibly damaging	Het
Papss2	G	A	19: 32,641,876 (GRCm39)	G517D	probably damaging	Het
Parp14	T	C	16: 35,676,918 (GRCm39)	S1017G	probably benign	Het
Pde2a	A	G	7: 101,150,242 (GRCm39)	Q227R	probably benign	Het
Pdlim5	G	T	3: 142,020,183 (GRCm39)	P92Q	probably damaging	Het
Pkd1l3	C	T	8: 110,350,595 (GRCm39)	T480I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Ppp3ca	A	G	3: 136,583,531 (GRCm39)	R213G	possibly damaging	Het
Pramel18	G	A	4: 101,767,189 (GRCm39)	R146H	probably benign	Het
Prrc1	C	T	18: 57,495,619 (GRCm39)	S32L	probably null	Het
Prss47	C	T	13: 65,197,116 (GRCm39)	V207I	probably benign	Het
Prtg	G	A	9: 72,819,414 (GRCm39)	V1136I	possibly damaging	Het
Psmb8	T	A	17: 34,418,265 (GRCm39)	M69K	possibly damaging	Het
Rb1	A	T	14: 73,436,636 (GRCm39)	D876E	probably damaging	Het
Rnasel	T	C	1: 153,637,867 (GRCm39)	M680T	probably damaging	Het
Rnf111	G	T	9: 70,383,692 (GRCm39)	N80K	possibly damaging	Het
Senp1	C	T	15: 97,946,074 (GRCm39)	C557Y	probably damaging	Het
Serpina3a	A	T	12: 104,082,710 (GRCm39)	Y161F	probably damaging	Het
Serpinb11	A	T	1: 107,299,781 (GRCm39)		probably null	Het
Sgpl1	C	A	10: 60,947,936 (GRCm39)		probably null	Het
Slc37a4	A	G	9: 44,310,576 (GRCm39)	Y60C	probably damaging	Het
Slc38a10	A	G	11: 120,015,208 (GRCm39)	S381P	probably benign	Het
Slc5a7	C	T	17: 54,585,849 (GRCm39)	V323I	probably damaging	Het
Slco1a7	T	A	6: 141,668,818 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,655,716 (GRCm39)	E665V	possibly damaging	Het
Specc1	C	A	11: 62,023,164 (GRCm39)	N736K	probably damaging	Het
Tas2r121	T	C	6: 132,677,495 (GRCm39)	Y159C	probably benign	Het
Tex54	A	G	19: 8,718,462 (GRCm39)	D68G	probably benign	Het
Trank1	A	G	9: 111,196,268 (GRCm39)	I1431V	probably damaging	Het
Ttll6	T	C	11: 96,047,414 (GRCm39)	V671A	probably benign	Het
Ttn	A	T	2: 76,748,931 (GRCm39)		probably benign	Het
Uimc1	T	C	13: 55,188,389 (GRCm39)	T557A	possibly damaging	Het
Uri1	C	A	7: 37,661,974 (GRCm39)	V446L	probably benign	Het
Vpreb1b	C	T	16: 17,798,771 (GRCm39)	R86C	probably damaging	Het
Vwa8	A	G	14: 79,331,184 (GRCm39)	K1231E	probably benign	Het
Xcr1	G	A	9: 123,684,854 (GRCm39)	R303C	probably damaging	Het
Zfp619	C	A	7: 39,186,454 (GRCm39)	A828E	possibly damaging	Het
Zfp687	T	C	3: 94,915,049 (GRCm39)	S1151G	possibly damaging	Het

Other mutations in Cenpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Cenpc1	APN	5	86,185,387 (GRCm39)	missense	probably benign	0.02
IGL01287:Cenpc1	APN	5	86,170,313 (GRCm39)	nonsense	probably null
IGL01363:Cenpc1	APN	5	86,194,390 (GRCm39)	nonsense	probably null
IGL01720:Cenpc1	APN	5	86,193,284 (GRCm39)	missense	possibly damaging	0.84
IGL02217:Cenpc1	APN	5	86,177,059 (GRCm39)	splice site	probably benign
IGL02665:Cenpc1	APN	5	86,194,262 (GRCm39)	missense	probably benign	0.01
IGL03022:Cenpc1	APN	5	86,170,234 (GRCm39)	splice site	probably benign
IGL03162:Cenpc1	APN	5	86,185,764 (GRCm39)	missense	possibly damaging	0.94
IGL03343:Cenpc1	APN	5	86,164,181 (GRCm39)	missense	probably damaging	0.96
R0130:Cenpc1	UTSW	5	86,194,405 (GRCm39)	missense	probably benign	0.07
R0193:Cenpc1	UTSW	5	86,180,262 (GRCm39)	missense	probably benign	0.30
R0314:Cenpc1	UTSW	5	86,185,230 (GRCm39)	missense	probably benign	0.20
R0932:Cenpc1	UTSW	5	86,185,459 (GRCm39)	missense	possibly damaging	0.94
R0973:Cenpc1	UTSW	5	86,185,767 (GRCm39)	missense	probably damaging	1.00
R0973:Cenpc1	UTSW	5	86,185,767 (GRCm39)	missense	probably damaging	1.00
R0974:Cenpc1	UTSW	5	86,185,767 (GRCm39)	missense	probably damaging	1.00
R1240:Cenpc1	UTSW	5	86,183,369 (GRCm39)	missense	probably benign	0.32
R1454:Cenpc1	UTSW	5	86,161,369 (GRCm39)	missense	possibly damaging	0.71
R1677:Cenpc1	UTSW	5	86,209,857 (GRCm39)	splice site	probably benign
R2044:Cenpc1	UTSW	5	86,185,614 (GRCm39)	missense	probably benign	0.01
R2256:Cenpc1	UTSW	5	86,164,062 (GRCm39)	missense	probably damaging	1.00
R3085:Cenpc1	UTSW	5	86,185,476 (GRCm39)	missense	probably benign	0.01
R4516:Cenpc1	UTSW	5	86,195,446 (GRCm39)	missense	possibly damaging	0.72
R4518:Cenpc1	UTSW	5	86,195,446 (GRCm39)	missense	possibly damaging	0.72
R4561:Cenpc1	UTSW	5	86,195,491 (GRCm39)	missense	probably damaging	1.00
R4827:Cenpc1	UTSW	5	86,182,290 (GRCm39)	missense	possibly damaging	0.67
R4864:Cenpc1	UTSW	5	86,193,180 (GRCm39)	missense	probably damaging	1.00
R5222:Cenpc1	UTSW	5	86,185,606 (GRCm39)	missense	possibly damaging	0.77
R5707:Cenpc1	UTSW	5	86,183,293 (GRCm39)	missense	possibly damaging	0.82
R5920:Cenpc1	UTSW	5	86,168,769 (GRCm39)	missense	probably benign	0.00
R5999:Cenpc1	UTSW	5	86,160,122 (GRCm39)	missense	probably damaging	1.00
R6073:Cenpc1	UTSW	5	86,206,012 (GRCm39)	critical splice donor site	probably null
R6209:Cenpc1	UTSW	5	86,181,509 (GRCm39)	missense	probably benign	0.02
R6244:Cenpc1	UTSW	5	86,194,244 (GRCm39)	missense	probably damaging	1.00
R6278:Cenpc1	UTSW	5	86,183,394 (GRCm39)	missense	probably damaging	0.97
R7269:Cenpc1	UTSW	5	86,180,277 (GRCm39)	missense	probably benign	0.12
R7269:Cenpc1	UTSW	5	86,161,366 (GRCm39)	missense	probably damaging	1.00
R7335:Cenpc1	UTSW	5	86,182,212 (GRCm39)	missense	possibly damaging	0.95
R7378:Cenpc1	UTSW	5	86,194,358 (GRCm39)	missense	probably benign	0.02
R7968:Cenpc1	UTSW	5	86,181,551 (GRCm39)	missense	probably benign
R8380:Cenpc1	UTSW	5	86,194,275 (GRCm39)	missense	probably benign	0.00
R8780:Cenpc1	UTSW	5	86,164,209 (GRCm39)	missense	probably damaging	1.00
R8859:Cenpc1	UTSW	5	86,160,153 (GRCm39)	missense	probably benign	0.02
R8982:Cenpc1	UTSW	5	86,195,533 (GRCm39)	missense	probably damaging	1.00
R9157:Cenpc1	UTSW	5	86,166,316 (GRCm39)	missense	probably benign	0.00
RF018:Cenpc1	UTSW	5	86,193,228 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GACTGTAGGGACCCTTCAATAAAG -3'
(R):5'- CAGGTACACACATTCCTCTTTTAG -3'

Sequencing Primer
(F):5'- CTACAACTTCTCCTGGAAG -3'
(R):5'- TTAGTTTATGACAAGCAGTGAGC -3'

Posted On

2018-05-04