Mutagenetix > Incidental Mutation

Incidental Mutation 'R1392:Cenpj'

200893

Institutional Source

Beutler Lab

Gene Symbol

Cenpj

Ensembl Gene

ENSMUSG00000064128

Gene Name

centromere protein J

Synonyms

4932437H03Rik, Sas4

MMRRC Submission

039454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1392 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56764218-56812882 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 56772311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065302] [ENSMUST00000225951]

AlphaFold

Q569L8

Predicted Effect

probably benign
Transcript: ENSMUST00000065302

SMART Domains

Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128

Domain	Start	End	E-Value	Type
low complexity region	60	76	N/A	INTRINSIC
coiled coil region	140	185	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
low complexity region	547	570	N/A	INTRINSIC
low complexity region	860	871	N/A	INTRINSIC
coiled coil region	899	1046	N/A	INTRINSIC
low complexity region	1144	1154	N/A	INTRINSIC
Pfam:Tcp10_C	1167	1342	5.1e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158545

Predicted Effect

probably benign
Transcript: ENSMUST00000225951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226026

Predicted Effect

probably benign
Transcript: ENSMUST00000229861

Coding Region Coverage

1x: 97.6%
3x: 97.1%
10x: 95.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for null alleles exhibit embryonic lethality during early organogenesis and may show failure of embryo turning and absence of centrioles, cilia and centrosomes. Mice homozygous for a hypomorphic allele display partial lethality, dwarfism and a wide range of abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930005H10Rik	T	C	3: 115,681,653 (GRCm39)		probably benign	Het
Csf1	A	G	3: 107,663,946 (GRCm39)	V74A	probably benign	Het
Dsg4	T	A	18: 20,579,304 (GRCm39)		probably benign	Het
Hnrnpm	A	T	17: 33,877,389 (GRCm39)	S325T	possibly damaging	Het
Hunk	T	C	16: 90,269,352 (GRCm39)	S299P	probably damaging	Het
Kcnk4	C	T	19: 6,905,031 (GRCm39)	V207I	possibly damaging	Het
Myo15a	A	G	11: 60,368,800 (GRCm39)	H520R	possibly damaging	Het
Nlrp2	A	G	7: 5,332,014 (GRCm39)		probably benign	Het
Or14c46	A	T	7: 85,918,063 (GRCm39)	F311L	probably benign	Het
Or1n1	A	T	2: 36,750,187 (GRCm39)	Y58N	probably damaging	Het
Pgap4	A	G	4: 49,586,919 (GRCm39)	L83P	probably damaging	Het
Phc2	A	G	4: 128,638,880 (GRCm39)	H607R	possibly damaging	Het
Rsad2	A	G	12: 26,495,439 (GRCm39)	V352A	probably benign	Het
Rtn4rl2	A	G	2: 84,710,856 (GRCm39)	L136P	probably damaging	Het
Smc1b	T	C	15: 84,991,271 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,647,349 (GRCm39)	V993I	probably benign	Het
Tiam2	A	G	17: 3,464,472 (GRCm39)	H67R	possibly damaging	Het
Tmt1b	T	C	10: 128,796,567 (GRCm39)	T81A	possibly damaging	Het
Vmn2r65	A	T	7: 84,596,624 (GRCm39)	S144T	probably benign	Het
Vmn2r77	A	G	7: 86,450,830 (GRCm39)	T239A	probably benign	Het

Other mutations in Cenpj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Cenpj	APN	14	56,790,487 (GRCm39)	missense	probably benign	0.04
IGL00969:Cenpj	APN	14	56,802,420 (GRCm39)	missense	possibly damaging	0.68
IGL01152:Cenpj	APN	14	56,789,757 (GRCm39)	missense	probably benign	0.01
IGL01475:Cenpj	APN	14	56,802,502 (GRCm39)	missense	possibly damaging	0.80
IGL01548:Cenpj	APN	14	56,769,776 (GRCm39)	missense	probably benign	0.00
IGL01893:Cenpj	APN	14	56,790,931 (GRCm39)	missense	probably damaging	1.00
IGL02647:Cenpj	APN	14	56,767,536 (GRCm39)	missense	probably damaging	0.99
IGL02683:Cenpj	APN	14	56,790,409 (GRCm39)	missense	possibly damaging	0.88
IGL02691:Cenpj	APN	14	56,789,547 (GRCm39)	missense	probably benign	0.28
IGL03008:Cenpj	APN	14	56,764,406 (GRCm39)	missense	probably benign	0.39
R0206:Cenpj	UTSW	14	56,801,427 (GRCm39)	missense	probably benign	0.00
R0208:Cenpj	UTSW	14	56,801,427 (GRCm39)	missense	probably benign	0.00
R0356:Cenpj	UTSW	14	56,786,953 (GRCm39)	missense	probably damaging	1.00
R0942:Cenpj	UTSW	14	56,792,666 (GRCm39)	unclassified	probably benign
R1564:Cenpj	UTSW	14	56,789,523 (GRCm39)	missense	probably benign	0.43
R1671:Cenpj	UTSW	14	56,802,502 (GRCm39)	missense	probably damaging	0.99
R1889:Cenpj	UTSW	14	56,796,182 (GRCm39)	missense	probably benign	0.43
R2059:Cenpj	UTSW	14	56,801,412 (GRCm39)	missense	possibly damaging	0.94
R2140:Cenpj	UTSW	14	56,764,389 (GRCm39)	missense	probably damaging	1.00
R2509:Cenpj	UTSW	14	56,769,694 (GRCm39)	missense	probably null	0.98
R2866:Cenpj	UTSW	14	56,789,637 (GRCm39)	missense	probably benign	0.01
R3813:Cenpj	UTSW	14	56,790,679 (GRCm39)	missense	probably benign	0.05
R4620:Cenpj	UTSW	14	56,772,911 (GRCm39)	missense	probably damaging	0.99
R4670:Cenpj	UTSW	14	56,790,840 (GRCm39)	missense	possibly damaging	0.80
R4671:Cenpj	UTSW	14	56,790,840 (GRCm39)	missense	possibly damaging	0.80
R4765:Cenpj	UTSW	14	56,787,002 (GRCm39)	nonsense	probably null
R4915:Cenpj	UTSW	14	56,791,175 (GRCm39)	missense	probably damaging	0.98
R4930:Cenpj	UTSW	14	56,772,238 (GRCm39)	nonsense	probably null
R5088:Cenpj	UTSW	14	56,791,148 (GRCm39)	missense	probably damaging	1.00
R5523:Cenpj	UTSW	14	56,789,880 (GRCm39)	missense	probably benign	0.00
R5527:Cenpj	UTSW	14	56,764,440 (GRCm39)	missense	probably damaging	1.00
R5717:Cenpj	UTSW	14	56,790,978 (GRCm39)	frame shift	probably null
R5944:Cenpj	UTSW	14	56,791,115 (GRCm39)	critical splice donor site	probably null
R5975:Cenpj	UTSW	14	56,801,523 (GRCm39)	missense	possibly damaging	0.92
R6019:Cenpj	UTSW	14	56,772,272 (GRCm39)	missense	probably benign	0.01
R6291:Cenpj	UTSW	14	56,789,433 (GRCm39)	missense	probably benign	0.01
R6948:Cenpj	UTSW	14	56,790,683 (GRCm39)	missense	probably damaging	0.96
R7212:Cenpj	UTSW	14	56,790,109 (GRCm39)	missense	probably benign	0.00
R7461:Cenpj	UTSW	14	56,764,501 (GRCm39)	nonsense	probably null
R7613:Cenpj	UTSW	14	56,764,501 (GRCm39)	nonsense	probably null
R7634:Cenpj	UTSW	14	56,780,257 (GRCm39)	missense	probably benign	0.00
R7837:Cenpj	UTSW	14	56,796,185 (GRCm39)	missense	probably benign	0.02
R8722:Cenpj	UTSW	14	56,772,975 (GRCm39)	missense	probably damaging	1.00
R8810:Cenpj	UTSW	14	56,796,076 (GRCm39)	missense	possibly damaging	0.78
R8813:Cenpj	UTSW	14	56,790,355 (GRCm39)	missense	probably damaging	1.00
R8842:Cenpj	UTSW	14	56,780,329 (GRCm39)	missense	probably damaging	0.97
R8916:Cenpj	UTSW	14	56,790,352 (GRCm39)	missense	probably damaging	1.00
R8987:Cenpj	UTSW	14	56,764,383 (GRCm39)	missense	possibly damaging	0.75
R9128:Cenpj	UTSW	14	56,780,319 (GRCm39)	missense	probably damaging	1.00
R9227:Cenpj	UTSW	14	56,802,176 (GRCm39)	missense	possibly damaging	0.51
R9229:Cenpj	UTSW	14	56,802,176 (GRCm39)	missense	possibly damaging	0.51
R9624:Cenpj	UTSW	14	56,802,387 (GRCm39)	missense	probably benign	0.01
R9686:Cenpj	UTSW	14	56,790,048 (GRCm39)	missense	probably benign	0.01
R9717:Cenpj	UTSW	14	56,790,453 (GRCm39)	missense	probably benign	0.02
RF007:Cenpj	UTSW	14	56,767,505 (GRCm39)	critical splice donor site	probably null
Z1177:Cenpj	UTSW	14	56,790,336 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

Posted On

2014-05-23