Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Cenpc1'

505442

Institutional Source

Beutler Lab

Gene Symbol

Cenpc1

Ensembl Gene

ENSMUSG00000029253

Gene Name

centromere protein C1

Synonyms

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86012024-86065583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86046385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 174 (R174M)

Ref Sequence

ENSEMBL: ENSMUSP00000031170 (fasta)

Gene Model

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

AlphaFold

P49452

Predicted Effect

probably damaging
Transcript: ENSMUST00000031170
AA Change: R174M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: R174M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199392

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999 (GRCm38)	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230 (GRCm38)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533 (GRCm38)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931 (GRCm38)	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829 (GRCm38)	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487 (GRCm38)	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100 (GRCm38)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561 (GRCm38)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352 (GRCm38)		probably null	Het
Brap	C	A	5: 121,665,309 (GRCm38)	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978 (GRCm38)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251 (GRCm38)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718 (GRCm38)	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128 (GRCm38)	H860R	probably damaging	Het
Cfap57	T	G	4: 118,579,410 (GRCm38)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694 (GRCm38)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317 (GRCm38)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276 (GRCm38)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923 (GRCm38)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,049,628 (GRCm38)	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069 (GRCm38)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307 (GRCm38)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397 (GRCm38)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912 (GRCm38)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079 (GRCm38)	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776 (GRCm38)		probably null	Het
Fen1	A	G	19: 10,200,687 (GRCm38)	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240 (GRCm38)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306 (GRCm38)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548 (GRCm38)	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241 (GRCm38)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140 (GRCm38)	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985 (GRCm38)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566 (GRCm38)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601 (GRCm38)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226 (GRCm38)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523 (GRCm38)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005 (GRCm38)	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550 (GRCm38)	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695 (GRCm38)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058 (GRCm38)		probably null	Het
Magi3	G	C	3: 104,015,697 (GRCm38)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244 (GRCm38)	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745 (GRCm38)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754 (GRCm38)	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501 (GRCm38)	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137 (GRCm38)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855 (GRCm38)	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790 (GRCm38)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537 (GRCm38)	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028 (GRCm38)	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222 (GRCm38)	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895 (GRCm38)	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004 (GRCm38)	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341 (GRCm38)	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433 (GRCm38)	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673 (GRCm38)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558 (GRCm38)		probably null	Het
Polr2a	G	A	11: 69,744,226 (GRCm38)	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632 (GRCm38)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Homo
Sc5d	T	C	9: 42,255,421 (GRCm38)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828 (GRCm38)		probably null	Het
Serpinb11	T	A	1: 107,372,242 (GRCm38)	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665 (GRCm38)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797 (GRCm38)	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175 (GRCm38)	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712 (GRCm38)		probably null	Het
Strn3	A	G	12: 51,610,107 (GRCm38)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214 (GRCm38)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179 (GRCm38)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610 (GRCm38)	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756 (GRCm38)	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892 (GRCm38)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044 (GRCm38)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272 (GRCm38)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902 (GRCm38)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651 (GRCm38)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662 (GRCm38)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161 (GRCm38)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971 (GRCm38)	Y426H	probably benign	Het

Other mutations in Cenpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Cenpc1	APN	5	86,037,528 (GRCm38)	missense	probably benign	0.02
IGL01287:Cenpc1	APN	5	86,022,454 (GRCm38)	nonsense	probably null
IGL01363:Cenpc1	APN	5	86,046,531 (GRCm38)	nonsense	probably null
IGL01720:Cenpc1	APN	5	86,045,425 (GRCm38)	missense	possibly damaging	0.84
IGL02217:Cenpc1	APN	5	86,029,200 (GRCm38)	splice site	probably benign
IGL02665:Cenpc1	APN	5	86,046,403 (GRCm38)	missense	probably benign	0.01
IGL03022:Cenpc1	APN	5	86,022,375 (GRCm38)	splice site	probably benign
IGL03162:Cenpc1	APN	5	86,037,905 (GRCm38)	missense	possibly damaging	0.94
IGL03343:Cenpc1	APN	5	86,016,322 (GRCm38)	missense	probably damaging	0.96
R0130:Cenpc1	UTSW	5	86,046,546 (GRCm38)	missense	probably benign	0.07
R0193:Cenpc1	UTSW	5	86,032,403 (GRCm38)	missense	probably benign	0.30
R0314:Cenpc1	UTSW	5	86,037,371 (GRCm38)	missense	probably benign	0.20
R0932:Cenpc1	UTSW	5	86,037,600 (GRCm38)	missense	possibly damaging	0.94
R0973:Cenpc1	UTSW	5	86,037,908 (GRCm38)	missense	probably damaging	1.00
R0973:Cenpc1	UTSW	5	86,037,908 (GRCm38)	missense	probably damaging	1.00
R0974:Cenpc1	UTSW	5	86,037,908 (GRCm38)	missense	probably damaging	1.00
R1240:Cenpc1	UTSW	5	86,035,510 (GRCm38)	missense	probably benign	0.32
R1454:Cenpc1	UTSW	5	86,013,510 (GRCm38)	missense	possibly damaging	0.71
R1677:Cenpc1	UTSW	5	86,061,998 (GRCm38)	splice site	probably benign
R2044:Cenpc1	UTSW	5	86,037,755 (GRCm38)	missense	probably benign	0.01
R2256:Cenpc1	UTSW	5	86,016,203 (GRCm38)	missense	probably damaging	1.00
R3085:Cenpc1	UTSW	5	86,037,617 (GRCm38)	missense	probably benign	0.01
R4516:Cenpc1	UTSW	5	86,047,587 (GRCm38)	missense	possibly damaging	0.72
R4518:Cenpc1	UTSW	5	86,047,587 (GRCm38)	missense	possibly damaging	0.72
R4561:Cenpc1	UTSW	5	86,047,632 (GRCm38)	missense	probably damaging	1.00
R4827:Cenpc1	UTSW	5	86,034,431 (GRCm38)	missense	possibly damaging	0.67
R4864:Cenpc1	UTSW	5	86,045,321 (GRCm38)	missense	probably damaging	1.00
R5222:Cenpc1	UTSW	5	86,037,747 (GRCm38)	missense	possibly damaging	0.77
R5707:Cenpc1	UTSW	5	86,035,434 (GRCm38)	missense	possibly damaging	0.82
R5920:Cenpc1	UTSW	5	86,020,910 (GRCm38)	missense	probably benign	0.00
R5999:Cenpc1	UTSW	5	86,012,263 (GRCm38)	missense	probably damaging	1.00
R6073:Cenpc1	UTSW	5	86,058,153 (GRCm38)	critical splice donor site	probably null
R6209:Cenpc1	UTSW	5	86,033,650 (GRCm38)	missense	probably benign	0.02
R6278:Cenpc1	UTSW	5	86,035,535 (GRCm38)	missense	probably damaging	0.97
R6395:Cenpc1	UTSW	5	86,035,570 (GRCm38)	missense	probably benign	0.14
R7269:Cenpc1	UTSW	5	86,032,418 (GRCm38)	missense	probably benign	0.12
R7269:Cenpc1	UTSW	5	86,013,507 (GRCm38)	missense	probably damaging	1.00
R7335:Cenpc1	UTSW	5	86,034,353 (GRCm38)	missense	possibly damaging	0.95
R7378:Cenpc1	UTSW	5	86,046,499 (GRCm38)	missense	probably benign	0.02
R7968:Cenpc1	UTSW	5	86,033,692 (GRCm38)	missense	probably benign
R8380:Cenpc1	UTSW	5	86,046,416 (GRCm38)	missense	probably benign	0.00
R8780:Cenpc1	UTSW	5	86,016,350 (GRCm38)	missense	probably damaging	1.00
R8859:Cenpc1	UTSW	5	86,012,294 (GRCm38)	missense	probably benign	0.02
R8982:Cenpc1	UTSW	5	86,047,674 (GRCm38)	missense	probably damaging	1.00
R9157:Cenpc1	UTSW	5	86,018,457 (GRCm38)	missense	probably benign	0.00
RF018:Cenpc1	UTSW	5	86,045,369 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTGTCTTAATTACTGTGTGTCTGC -3'
(R):5'- ACCATGGTGCGTCTGATGAATTG -3'

Sequencing Primer
(F):5'- GATACTGAACTCTGGTTACCGGAC -3'
(R):5'- GGACTTATGTGTTGGCTCCCC -3'

Posted On

2018-02-28