Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Cenpj'

236161

Institutional Source

Beutler Lab

Gene Symbol

Cenpj

Ensembl Gene

ENSMUSG00000064128

Gene Name

centromere protein J

Synonyms

4932437H03Rik, Sas4

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56764218-56812882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56764389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1341 (D1341G)

Ref Sequence

ENSEMBL: ENSMUSP00000153013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065302] [ENSMUST00000095793] [ENSMUST00000225951]

AlphaFold

Q569L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065302
AA Change: D1341G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065949
Gene: ENSMUSG00000064128
AA Change: D1341G

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: ENSMUST00000095793

SMART Domains

Protein: ENSMUSP00000093469
Gene: ENSMUSG00000000365

Domain	Start	End	E-Value	Type
Blast:RING	9	72	2e-15	BLAST
low complexity region	398	405	N/A	INTRINSIC
Pfam:TUDOR	440	522	8.2e-8	PFAM
TUDOR	750	807	4.32e-12	SMART
low complexity region	824	836	N/A	INTRINSIC
Blast:TUDOR	850	882	1e-8	BLAST
low complexity region	959	970	N/A	INTRINSIC
TUDOR	984	1042	1.29e-1	SMART
low complexity region	1128	1139	N/A	INTRINSIC
TUDOR	1245	1301	7.7e-9	SMART
low complexity region	1416	1430	N/A	INTRINSIC
TUDOR	1495	1554	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225737

Predicted Effect

probably damaging
Transcript: ENSMUST00000225951
AA Change: D1341G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226026

Meta Mutation Damage Score

0.8104

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902 (GRCm38)	I21T	probably damaging	Het
Adgrf1	A	C	17: 43,611,693 (GRCm39)	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agfg2	T	A	5: 137,665,378 (GRCm39)	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Alppl2	A	G	1: 87,015,419 (GRCm39)	S381P	probably benign	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Atp9b	A	G	18: 80,779,302 (GRCm39)	C1123R	probably damaging	Het
AU016765	T	A	17: 64,826,995 (GRCm39)		noncoding transcript	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,947,809 (GRCm39)	Y929F	probably damaging	Het
Cfap300	T	C	9: 8,022,478 (GRCm39)	D248G	probably damaging	Het
Cir1	A	T	2: 73,142,781 (GRCm39)	S18T	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,164,750 (GRCm39)	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,919,716 (GRCm39)	V20D	possibly damaging	Het
Dars1	T	A	1: 128,299,899 (GRCm39)	M362L	probably benign	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Dnah11	T	C	12: 117,972,545 (GRCm39)	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Eef1a2	C	T	2: 180,790,535 (GRCm39)	E374K	probably benign	Het
Eif3a	A	T	19: 60,763,832 (GRCm39)		probably benign	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Exoc8	C	T	8: 125,624,154 (GRCm39)	R71Q	possibly damaging	Het
Far1	G	A	7: 113,165,667 (GRCm39)	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,185,730 (GRCm39)	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,425,393 (GRCm39)	K1189R	probably benign	Het
Foxl2	C	A	9: 98,838,540 (GRCm39)	P276H	unknown	Het
Fpr3	T	A	17: 18,190,879 (GRCm39)	V50E	probably damaging	Het
Garem1	T	A	18: 21,262,431 (GRCm39)	R794S	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm4787	A	G	12: 81,425,336 (GRCm39)	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,026,193 (GRCm39)		probably null	Het
Hook1	GATGAATGA	GATGA	4: 95,901,549 (GRCm39)	503	probably null	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ints13	A	G	6: 146,477,929 (GRCm39)	S7P	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,364,288 (GRCm39)	L988R	probably damaging	Het
Kcnq3	C	A	15: 65,877,827 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Lama2	A	T	10: 26,930,690 (GRCm39)		probably null	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,701,771 (GRCm39)	E350K	probably damaging	Het
Lrrk1	A	T	7: 65,980,498 (GRCm39)	D227E	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Madd	A	G	2: 90,982,854 (GRCm39)	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,883,334 (GRCm39)	V295A	probably benign	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,717,059 (GRCm39)	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,462,043 (GRCm39)	Y313C	probably damaging	Het
Myot	A	T	18: 44,487,192 (GRCm39)	H343L	possibly damaging	Het
Myt1	C	A	2: 181,467,772 (GRCm39)	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,674,253 (GRCm39)	D877E	probably damaging	Het
Nle1	A	G	11: 82,796,394 (GRCm39)	V159A	probably damaging	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Nostrin	A	C	2: 68,996,347 (GRCm39)	Y209S	probably damaging	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or1e19	A	T	11: 73,316,707 (GRCm39)	M34K	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or5d40	A	T	2: 88,015,439 (GRCm39)	S73C	probably benign	Het
Or8h9	A	T	2: 86,789,625 (GRCm39)	M59K	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Pcdh7	T	A	5: 58,286,338 (GRCm39)	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 91,933,874 (GRCm39)	V173G	probably benign	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,040,765 (GRCm39)	D1787G	probably benign	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ptprt	G	A	2: 161,653,908 (GRCm39)	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,118,430 (GRCm39)	Y561C	probably damaging	Het
Rab17	A	G	1: 90,887,800 (GRCm39)	F120S	probably benign	Het
Rab7b	T	A	1: 131,626,157 (GRCm39)	W62R	probably damaging	Het
Ryr2	C	T	13: 11,575,493 (GRCm39)	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,705,493 (GRCm39)	V807A	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,759,487 (GRCm39)	R26Q	unknown	Het
Slc7a4	C	A	16: 17,392,408 (GRCm39)	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,875,481 (GRCm39)	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tasor	C	T	14: 27,201,992 (GRCm39)	T1462I	probably damaging	Het
Tiam1	A	G	16: 89,646,533 (GRCm39)		probably benign	Het
Tiparp	C	A	3: 65,436,673 (GRCm39)		probably benign	Het
Tmem39b	T	C	4: 129,572,481 (GRCm39)	T374A	probably benign	Het
Trim5	G	A	7: 103,925,998 (GRCm39)	R188*	probably null	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,038,196 (GRCm39)	E590D	probably benign	Het
Wwc1	A	G	11: 35,761,355 (GRCm39)	F650S	probably benign	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp1005	A	T	2: 150,111,281 (GRCm39)	H657L	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
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

PCR Primer
(F):5'- TGGAAAACACATGCACTAGATAAGC -3'
(R):5'- AGACCAACAGTGTGTTTAGGAG -3'

Sequencing Primer
(F):5'- GCACTAGATAAGCCACTTACTTTTG -3'
(R):5'- GGATTGACTTAAGGCCTCATGCAC -3'

Posted On

2014-10-01