Mutagenetix > Incidental Mutation

Incidental Mutation 'R9534:Cenpn'

719611

Institutional Source

Beutler Lab

Gene Symbol

Cenpn

Ensembl Gene

ENSMUSG00000031756

Gene Name

centromere protein N

Synonyms

2610510J17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R9534 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117648469-117668246 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 117661474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 191 (L191*)

Ref Sequence

ENSEMBL: ENSMUSP00000034205 (fasta)

Gene Model

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

AlphaFold

Q9CZW2

Predicted Effect

probably null
Transcript: ENSMUST00000034205
AA Change: L191*

SMART Domains

Protein: ENSMUSP00000034205
Gene: ENSMUSG00000031756
AA Change: L191*

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

Predicted Effect

probably null
Transcript: ENSMUST00000212263
AA Change: L104*

Predicted Effect

probably benign
Transcript: ENSMUST00000212775

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	A	19: 4,913,477 (GRCm39)	Q651H	probably benign	Het
Ahnak	G	T	19: 8,980,976 (GRCm39)	M753I	probably benign	Het
Ap1ar	T	C	3: 127,602,364 (GRCm39)	T225A	probably damaging	Het
Asic1	T	G	15: 99,594,397 (GRCm39)	I281S	probably benign	Het
Bard1	C	T	1: 71,114,189 (GRCm39)	C264Y	probably benign	Het
Bltp1	A	G	3: 37,052,419 (GRCm39)	T3040A	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cacna1e	T	C	1: 154,320,693 (GRCm39)	H1354R	possibly damaging	Het
Cc2d2b	G	T	19: 40,799,068 (GRCm39)	E860*	probably null	Het
Cep68	T	C	11: 20,190,686 (GRCm39)	R109G	probably benign	Het
Col9a1	T	A	1: 24,224,250 (GRCm39)	V144E	unknown	Het
Coro2a	T	C	4: 46,548,884 (GRCm39)	T137A	probably benign	Het
Ecpas	A	G	4: 58,807,867 (GRCm39)	V1667A	probably benign	Het
Eml6	T	C	11: 29,734,155 (GRCm39)	D1195G	possibly damaging	Het
Hspg2	G	A	4: 137,268,072 (GRCm39)	V2130I	probably benign	Het
Ifi214	A	T	1: 173,354,092 (GRCm39)	S193T	probably benign	Het
Iqsec3	C	A	6: 121,367,077 (GRCm39)	V724L	possibly damaging	Het
Lamb2	G	T	9: 108,365,830 (GRCm39)	G1445W	probably damaging	Het
Mis18bp1	A	T	12: 65,205,234 (GRCm39)	S313T	possibly damaging	Het
Or1f19	A	T	16: 3,410,937 (GRCm39)	I226F	probably benign	Het
Or4a68	A	C	2: 89,269,999 (GRCm39)	V208G	probably benign	Het
Or5b104	T	C	19: 13,072,121 (GRCm39)	E124G	probably damaging	Het
Pcdh9	C	T	14: 94,123,656 (GRCm39)	C838Y	probably damaging	Het
Pdcd11	A	G	19: 47,108,718 (GRCm39)	M1245V	probably benign	Het
Ppp3r1	A	G	11: 17,132,123 (GRCm39)	Y7C	probably benign	Het
Rdx	C	T	9: 51,984,482 (GRCm39)	R330*	probably null	Het
Scaf11	T	G	15: 96,318,209 (GRCm39)	N452H	possibly damaging	Het
Scube1	A	G	15: 83,606,102 (GRCm39)	Y57H	probably damaging	Het
Slc35d3	T	C	10: 19,725,116 (GRCm39)	T247A	probably damaging	Het
Slfn5	A	T	11: 82,849,523 (GRCm39)	M341L	probably benign	Het
Smc2	T	A	4: 52,462,870 (GRCm39)	M620K	probably damaging	Het
Smg5	T	A	3: 88,252,759 (GRCm39)	S182T	probably benign	Het
Tdrd6	G	T	17: 43,936,510 (GRCm39)	L1513I	probably benign	Het
Tet2	A	T	3: 133,173,689 (GRCm39)	Y1524*	probably null	Het
Tex15	A	G	8: 34,060,999 (GRCm39)	N143S	probably benign	Het
Urb1	A	G	16: 90,583,096 (GRCm39)	I591T	possibly damaging	Het
Usp21	A	G	1: 171,110,942 (GRCm39)	S435P	probably benign	Het
Usp24	T	C	4: 106,264,312 (GRCm39)	Y1748H	probably damaging	Het
Vmn2r54	C	A	7: 12,366,093 (GRCm39)	K280N	probably benign	Het
Zan	G	T	5: 137,407,945 (GRCm39)	C3616*	probably null	Het
Zfp804b	T	C	5: 6,819,115 (GRCm39)	D1316G	probably damaging	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
R7556:Cenpn	UTSW	8	117,664,008 (GRCm39)	missense	probably damaging	1.00
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
R9574:Cenpn	UTSW	8	117,660,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTCTCACTTGCAAGAGTGG -3'
(R):5'- TAAAAGCTTCATCCACTCGCTAG -3'

Sequencing Primer
(F):5'- TGTCTTGCGACAGGGCTCAC -3'
(R):5'- ATCCACTCGCTAGCCTGCAG -3'

Posted On

2022-07-18