Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00565:Cenpj'

9608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenpj

Ensembl Gene

ENSMUSG00000064128

Gene Name

centromere protein J

Synonyms

4932437H03Rik, Sas4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00565

Quality Score

Status

Chromosome

Chromosomal Location

56764218-56812882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56790487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 521 (V521I)

Ref Sequence

ENSEMBL: ENSMUSP00000153013 (fasta)

Gene Model

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

AlphaFold

Q569L8

Predicted Effect

probably benign
Transcript: ENSMUST00000065302
AA Change: V521I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: V521I

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

probably benign
Transcript: ENSMUST00000225951
AA Change: V521I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000229861

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	A	7: 41,274,996 (GRCm39)	T233K	possibly damaging	Het
Adamts9	A	T	6: 92,836,883 (GRCm39)	M623K	possibly damaging	Het
Arid1a	T	G	4: 133,412,793 (GRCm39)	D1467A	unknown	Het
Cdhr2	A	G	13: 54,866,112 (GRCm39)	D304G	probably damaging	Het
Ciao2a	A	T	9: 66,039,898 (GRCm39)	I72L	probably benign	Het
Csf2rb	G	T	15: 78,232,714 (GRCm39)	E674*	probably null	Het
Dnai3	T	C	3: 145,750,674 (GRCm39)		probably benign	Het
Edaradd	C	T	13: 12,498,480 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,559,854 (GRCm39)	V1041A	possibly damaging	Het
Fam135b	A	G	15: 71,343,361 (GRCm39)	V418A	probably benign	Het
Gnas	T	A	2: 174,183,504 (GRCm39)		probably benign	Het
Grxcr1	A	T	5: 68,189,540 (GRCm39)	N104Y	possibly damaging	Het
Gtf2a1l	T	A	17: 89,001,723 (GRCm39)	L146Q	probably damaging	Het
Hectd1	T	A	12: 51,837,181 (GRCm39)	E791D	probably damaging	Het
Ifi203	A	G	1: 173,765,306 (GRCm39)		probably null	Het
Klk1b11	A	G	7: 43,649,243 (GRCm39)	N260S	probably damaging	Het
LTO1	G	T	7: 144,470,220 (GRCm39)	V50F	probably damaging	Het
Map4	A	T	9: 109,901,672 (GRCm39)		probably benign	Het
Marveld2	C	T	13: 100,737,401 (GRCm39)	V163M	possibly damaging	Het
Med14	T	C	X: 12,613,003 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,116 (GRCm39)	I144F	probably damaging	Het
Pde2a	T	A	7: 101,133,796 (GRCm39)	C92*	probably null	Het
Phf6	T	A	X: 52,020,516 (GRCm39)	Y103N	probably damaging	Het
Ptprt	A	G	2: 161,402,111 (GRCm39)	I1039T	probably damaging	Het
Rftn2	C	A	1: 55,243,444 (GRCm39)	V275F	probably damaging	Het
Skap1	C	A	11: 96,621,971 (GRCm39)	Q296K	probably damaging	Het
Skap1	T	A	11: 96,622,016 (GRCm39)	F311I	probably damaging	Het
Tas2r115	A	G	6: 132,714,741 (GRCm39)	I70T	probably benign	Het
Vav2	T	C	2: 27,167,250 (GRCm39)	D613G	probably benign	Het
Zranb3	T	C	1: 127,943,877 (GRCm39)	E290G	probably benign	Het

Other mutations in Cenpj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1392:Cenpj	UTSW	14	56,772,311 (GRCm39)	splice site	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

Posted On

2012-12-06