Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Cenpj'

366086

Institutional Source

Beutler Lab

Gene Symbol

Cenpj

Ensembl Gene

ENSMUSG00000064128

Gene Name

centromere protein J

Synonyms

4932437H03Rik, Sas4

MMRRC Submission

042406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56764218-56812882 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 56787002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 192 (R192*)

Gene Model

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

AlphaFold

Q569L8

Predicted Effect

probably null
Transcript: ENSMUST00000065302
AA Change: R901*

SMART Domains

Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: R901*

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 null
Transcript: ENSMUST00000225951
AA Change: R901*

Predicted Effect

probably null
Transcript: ENSMUST00000229861
AA Change: R192*

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,364 (GRCm39)	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cflar	T	C	1: 58,771,480 (GRCm39)	S203P	probably damaging	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or5b24	T	C	19: 12,912,440 (GRCm39)	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Plk4	A	G	3: 40,756,457 (GRCm39)	E97G	probably damaging	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Scyl2	C	T	10: 89,495,160 (GRCm39)	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Thoc6	A	G	17: 23,889,862 (GRCm39)	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	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
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
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

PCR Primer
(F):5'- ACTGGGTTCAGAACTACAAACTG -3'
(R):5'- GCAGCTGTCCAACATTGATTCTTTC -3'

Sequencing Primer
(F):5'- GAGACAGGTCCTCATGTTATCCAG -3'
(R):5'- GTCCAACATTGATTCTTTCTTAACG -3'

Posted On

2015-12-21