Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Cenpj'

508461

Institutional Source

Beutler Lab

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 #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56764218-56812882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56789433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 872 (D872G)

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: D872G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: D872G

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: D872G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

unknown
Transcript: ENSMUST00000229861
AA Change: D170G

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
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
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'- AGAGTGGTGTGCTGGCAATC -3'
(R):5'- TCCATACGAACATGGTGTTATCC -3'

Sequencing Primer
(F):5'- CTGGCAATCTGATTGTGCCAAAG -3'
(R):5'- TACGAACATGGTGTTATCCACAGAG -3'

Posted On

2018-03-15