Mutagenetix > Incidental Mutation

Incidental Mutation 'R7556:Cenpn'

584777

Institutional Source

Beutler Lab

Gene Symbol

Cenpn

Ensembl Gene

ENSMUSG00000031756

Gene Name

centromere protein N

Synonyms

2610510J17Rik

MMRRC Submission

045624-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117648469-117668246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117664008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 267 (Y267H)

Ref Sequence

ENSEMBL: ENSMUSP00000034205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034205] [ENSMUST00000212263] [ENSMUST00000212775]

AlphaFold

Q9CZW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034205
AA Change: Y267H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
AA Change: Y267H

Domain	Start	End	E-Value	Type
Pfam:CENP-N	3	337	3.4e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212263
AA Change: Y180H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212775

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,221,611 (GRCm39)	W11*	probably null	Het
A2ml1	A	G	6: 128,546,927 (GRCm39)	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,195,358 (GRCm39)	Y592N	probably benign	Het
Adh6b	C	T	3: 138,058,546 (GRCm39)	T76I	probably damaging	Het
Aebp2	C	A	6: 140,623,137 (GRCm39)	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,028,839 (GRCm39)	D134G		Het
Atf7ip	T	C	6: 136,538,239 (GRCm39)	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,680,991 (GRCm39)	D832G	probably benign	Het
Atrnl1	G	A	19: 57,643,278 (GRCm39)	V389I	probably benign	Het
Bahcc1	T	C	11: 120,178,589 (GRCm39)	S2383P	probably damaging	Het
Brd9	A	G	13: 74,092,886 (GRCm39)	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,348,419 (GRCm39)	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,018,491 (GRCm39)		probably benign	Het
Cdc42ep4	C	G	11: 113,619,366 (GRCm39)	E342Q	probably damaging	Het
Celf3	C	T	3: 94,387,590 (GRCm39)	T54M	probably damaging	Het
Chrnb4	T	C	9: 54,942,339 (GRCm39)	T312A	probably benign	Het
Clcn3	T	A	8: 61,382,521 (GRCm39)	T383S	probably damaging	Het
Cln3	T	C	7: 126,174,242 (GRCm39)	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,851,761 (GRCm39)	L50P	probably damaging	Het
Cnot6	T	C	11: 49,566,144 (GRCm39)	N512S	probably benign	Het
Col7a1	T	A	9: 108,811,533 (GRCm39)		probably null	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,389 (GRCm39)	I1260V	probably null	Het
Dock2	G	T	11: 34,611,778 (GRCm39)	T195K	probably benign	Het
Dpp9	A	T	17: 56,497,012 (GRCm39)	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,674,741 (GRCm39)	N31Y	probably benign	Het
Frat1	G	A	19: 41,818,959 (GRCm39)	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,367,208 (GRCm39)	F228S		Het
Golgb1	A	T	16: 36,736,155 (GRCm39)	M1842L	probably benign	Het
Got1	A	T	19: 43,491,469 (GRCm39)	M327K	probably damaging	Het
H4c9	A	G	13: 22,225,414 (GRCm39)	I27T	probably damaging	Het
Hexa	T	A	9: 59,470,582 (GRCm39)	L468Q	probably damaging	Het
Ift57	G	A	16: 49,526,491 (GRCm39)	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,298,757 (GRCm39)	T60A	probably benign	Het
Klk1b5	A	G	7: 43,496,649 (GRCm39)	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,759,666 (GRCm39)	G16C	unknown	Het
Lamb3	T	C	1: 193,014,757 (GRCm39)	S639P	probably benign	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mcf2l	A	G	8: 13,023,071 (GRCm39)	T86A	probably damaging	Het
Mecom	G	T	3: 30,041,220 (GRCm39)	H125N	probably benign	Het
Med18	T	C	4: 132,187,247 (GRCm39)	H84R	probably benign	Het
Muc2	A	G	7: 141,307,439 (GRCm39)	Y798C		Het
Mycbp	T	C	4: 123,799,060 (GRCm39)	Y17H	probably damaging	Het
Nacad	C	T	11: 6,551,272 (GRCm39)	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,320,794 (GRCm39)	V1092I	probably damaging	Het
Nomo1	A	G	7: 45,715,642 (GRCm39)	E696G	probably damaging	Het
Notch4	G	A	17: 34,794,444 (GRCm39)	C741Y	probably damaging	Het
Or10g7	A	G	9: 39,905,978 (GRCm39)	N291D	probably damaging	Het
Or6d12	C	T	6: 116,493,697 (GRCm39)	Q320*	probably null	Het
Osbpl10	C	A	9: 115,036,692 (GRCm39)	H229Q	probably damaging	Het
Pif1	A	T	9: 65,496,993 (GRCm39)		probably null	Het
Plk2	T	G	13: 110,533,122 (GRCm39)		probably null	Het
Ppp1r42	T	C	1: 10,065,408 (GRCm39)	H172R	probably benign	Het
Ring1	A	G	17: 34,240,688 (GRCm39)	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,117,863 (GRCm39)	Y475D	probably damaging	Het
Sbf2	T	A	7: 109,913,260 (GRCm39)	K1671N	probably benign	Het
Sema6d	A	G	2: 124,496,109 (GRCm39)	N51S	probably damaging	Het
Setx	C	A	2: 29,036,505 (GRCm39)	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,425,162 (GRCm39)	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,843,119 (GRCm39)	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,140,514 (GRCm39)	K173*	probably null	Het
Smc2	T	C	4: 52,457,379 (GRCm39)	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,849,798 (GRCm39)	M777V	probably benign	Het
Stkld1	A	T	2: 26,837,307 (GRCm39)	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,799,857 (GRCm39)	V93A		Het
Tbx20	T	C	9: 24,661,573 (GRCm39)		probably null	Het
Trbv20	G	A	6: 41,165,715 (GRCm39)	V47I	probably benign	Het
Trip4	A	T	9: 65,782,155 (GRCm39)	C192*	probably null	Het
Tsbp1	A	T	17: 34,656,691 (GRCm39)	I103F	unknown	Het
Tulp2	A	G	7: 45,168,005 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,689,690 (GRCm39)	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927 (GRCm39)	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,898,093 (GRCm39)	N369K	probably benign	Het
Vmn2r59	A	T	7: 41,695,233 (GRCm39)	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Xpot	A	G	10: 121,449,411 (GRCm39)	S30P	probably benign	Het
Zfp947	T	C	17: 22,364,597 (GRCm39)	Y359C	probably benign	Het

Other mutations in Cenpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Cenpn	APN	8	117,655,326 (GRCm39)	splice site	probably null
IGL02084:Cenpn	APN	8	117,667,634 (GRCm39)	missense	probably damaging	1.00
R0791:Cenpn	UTSW	8	117,667,559 (GRCm39)	splice site	probably benign
R0843:Cenpn	UTSW	8	117,660,045 (GRCm39)	missense	probably benign	0.09
R1166:Cenpn	UTSW	8	117,652,946 (GRCm39)	missense	probably damaging	1.00
R1650:Cenpn	UTSW	8	117,661,498 (GRCm39)	missense	probably damaging	1.00
R2132:Cenpn	UTSW	8	117,661,536 (GRCm39)	critical splice donor site	probably null
R4512:Cenpn	UTSW	8	117,660,135 (GRCm39)	missense	probably damaging	1.00
R4513:Cenpn	UTSW	8	117,660,135 (GRCm39)	missense	probably damaging	1.00
R4514:Cenpn	UTSW	8	117,660,135 (GRCm39)	missense	probably damaging	1.00
R4865:Cenpn	UTSW	8	117,661,512 (GRCm39)	missense	probably damaging	1.00
R5969:Cenpn	UTSW	8	117,667,276 (GRCm39)	missense	probably damaging	1.00
R6518:Cenpn	UTSW	8	117,663,904 (GRCm39)	missense	possibly damaging	0.88
R6795:Cenpn	UTSW	8	117,652,887 (GRCm39)	missense	probably benign	0.02
R7143:Cenpn	UTSW	8	117,663,966 (GRCm39)	missense	probably benign	0.00
R7961:Cenpn	UTSW	8	117,663,976 (GRCm39)	missense	probably benign	0.00
R8009:Cenpn	UTSW	8	117,663,976 (GRCm39)	missense	probably benign	0.00
R8172:Cenpn	UTSW	8	117,658,333 (GRCm39)	missense	probably benign	0.05
R9034:Cenpn	UTSW	8	117,661,478 (GRCm39)	missense	probably benign	0.22
R9196:Cenpn	UTSW	8	117,658,344 (GRCm39)	missense	probably damaging	1.00
R9199:Cenpn	UTSW	8	117,664,014 (GRCm39)	critical splice donor site	probably null
R9534:Cenpn	UTSW	8	117,661,474 (GRCm39)	nonsense	probably null
R9574:Cenpn	UTSW	8	117,660,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTAGGAATGGGAAGACCGC -3'
(R):5'- AGGCAGCAACTCTCTGGAAC -3'

Sequencing Primer
(F):5'- GCTATGTAAGGCGAAGTGTATTCC -3'
(R):5'- AGTCAGTCAGGTTTGCCTCCAAG -3'

Posted On

2019-10-17