Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Cenpc1'

21602

Institutional Source

Beutler Lab

Gene Symbol

Cenpc1

Ensembl Gene

ENSMUSG00000029253

Gene Name

centromere protein C1

Synonyms

MMRRC Submission

038415-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0130 (G1)

Quality Score

184

Status

Validated (trace)

Chromosome

Chromosomal Location

86159883-86213442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86194405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 120 (D120E)

Ref Sequence

ENSEMBL: ENSMUSP00000031170 (fasta)

Gene Model

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

AlphaFold

P49452

Predicted Effect

probably benign
Transcript: ENSMUST00000031170
AA Change: D120E

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031170
Gene: ENSMUSG00000029253
AA Change: D120E

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,994,094 (GRCm39)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Apol7c	A	G	15: 77,410,562 (GRCm39)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Arfip2	A	G	7: 105,288,205 (GRCm39)		probably benign	Het
Atp5mf	A	T	5: 145,124,992 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,569,389 (GRCm39)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,119,990 (GRCm39)	T613A	probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,250,656 (GRCm39)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,922,059 (GRCm39)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,585,108 (GRCm39)	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,858,716 (GRCm39)		probably benign	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,142,944 (GRCm39)	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Gde1	A	T	7: 118,294,283 (GRCm39)	F63L	probably benign	Het
Gjc3	A	G	5: 137,956,202 (GRCm39)	S28P	probably benign	Het
Gm10250	G	A	15: 5,150,473 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,740,843 (GRCm39)	L190P	probably damaging	Het
Mki67	T	A	7: 135,298,188 (GRCm39)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,285,990 (GRCm39)	I272F	probably damaging	Het
Myom1	A	T	17: 71,352,750 (GRCm39)	D358V	probably damaging	Het
Nebl	T	C	2: 17,395,737 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,325,417 (GRCm39)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,035,514 (GRCm39)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pld2	T	G	11: 70,445,174 (GRCm39)	N591K	probably benign	Het
Plekha7	A	G	7: 115,769,939 (GRCm39)	M276T	probably damaging	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Prtg	A	G	9: 72,716,998 (GRCm39)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,099,749 (GRCm39)	I88N	probably damaging	Het
Rbfox2	A	G	15: 76,976,057 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,047,233 (GRCm39)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,070,620 (GRCm39)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Tectb	G	T	19: 55,170,393 (GRCm39)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Tiam1	T	C	16: 89,694,642 (GRCm39)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,967,233 (GRCm39)		noncoding transcript	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	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
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
R6395:Cenpc1	UTSW	5	86,183,429 (GRCm39)	missense	probably benign	0.14
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'- CCCTTGCTTCAAATCTACATAGAAGGCTAAA -3'
(R):5'- GCCTAAACATAGCAGCATTTCATCTTTTCTT -3'

Sequencing Primer
(F):5'- TGCCTATCTACTGGACTCCTTG -3'
(R):5'- GCTTTATATGTCAACACTTTGGGC -3'

Posted On

2013-04-11