Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Cep57'

377573

Institutional Source

Beutler Lab

Gene Symbol

Cep57

Ensembl Gene

ENSMUSG00000031922

Gene Name

centrosomal protein 57

Synonyms

4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13719088-13738403 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 13727449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000144484] [ENSMUST00000147115] [ENSMUST00000150893] [ENSMUST00000148086]

AlphaFold

Q8CEE0

Predicted Effect

probably benign
Transcript: ENSMUST00000034398

SMART Domains

Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	9.8e-67	PFAM
low complexity region	259	271	N/A	INTRINSIC
Pfam:Cep57_MT_bd	348	420	2.6e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124524

Predicted Effect

probably benign
Transcript: ENSMUST00000124883

SMART Domains

Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	1	96	4.7e-34	PFAM
low complexity region	110	122	N/A	INTRINSIC
Pfam:Cep57_MT_bd	196	271	4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134746

SMART Domains

Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	209	1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142494

SMART Domains

Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	3.3e-72	PFAM
low complexity region	259	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144484

SMART Domains

Protein: ENSMUSP00000114940
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147115

SMART Domains

Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	2.1e-72	PFAM
low complexity region	254	275	N/A	INTRINSIC
Pfam:Cep57_MT_bd	319	394	1.3e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148904

Predicted Effect

probably benign
Transcript: ENSMUST00000150893

SMART Domains

Protein: ENSMUSP00000115338
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	1	96	5.2e-37	PFAM
low complexity region	110	122	N/A	INTRINSIC
Pfam:Cep57_MT_bd	196	271	2.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148086

SMART Domains

Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	41	218	1e-71	PFAM
low complexity region	232	244	N/A	INTRINSIC
Pfam:Cep57_MT_bd	318	393	6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151878

SMART Domains

Protein: ENSMUSP00000116847
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	1	133	1.6e-43	PFAM
low complexity region	147	159	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,454,990 (GRCm39)		probably benign	Het
Abat	G	A	16: 8,433,826 (GRCm39)	A392T	probably benign	Het
Abca14	G	A	7: 119,846,572 (GRCm39)		probably null	Het
Abcc6	A	T	7: 45,630,414 (GRCm39)	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,392,401 (GRCm39)		probably benign	Het
Adgrf1	G	T	17: 43,621,511 (GRCm39)	V583L	probably benign	Het
Aftph	T	C	11: 20,646,801 (GRCm39)	D825G	probably damaging	Het
Ahnak	T	C	19: 8,994,805 (GRCm39)	V5363A	probably benign	Het
Apba3	G	A	10: 81,107,117 (GRCm39)		probably null	Het
Asb13	T	C	13: 3,693,589 (GRCm39)	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266 (GRCm39)	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,256,289 (GRCm39)	H223Q	probably benign	Het
Best1	A	G	19: 9,970,135 (GRCm39)	L159P	probably benign	Het
Cacna1h	A	T	17: 25,608,396 (GRCm39)	M731K	probably damaging	Het
Catspere1	T	A	1: 177,687,427 (GRCm39)		noncoding transcript	Het
Cenpv	A	T	11: 62,418,346 (GRCm39)	Y202*	probably null	Het
Cfap100	T	A	6: 90,383,084 (GRCm39)	D363V	possibly damaging	Het
Cluh	A	G	11: 74,558,231 (GRCm39)	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,551,347 (GRCm39)		probably null	Het
Dnajc11	T	C	4: 152,064,390 (GRCm39)	F514L	probably damaging	Het
Efcab3	C	T	11: 104,611,112 (GRCm39)	T318I	probably benign	Het
Efcab3	T	A	11: 105,008,227 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,640,496 (GRCm39)	D1026G	probably damaging	Het
Eif2b4	T	G	5: 31,350,298 (GRCm39)	Q8P	probably benign	Het
Epha6	A	T	16: 59,486,918 (GRCm39)	V1043E	probably benign	Het
Gm11562	G	T	11: 99,511,141 (GRCm39)	Q20K	unknown	Het
Gm14415	A	T	2: 176,796,114 (GRCm39)		noncoding transcript	Het
Gm5431	A	G	11: 48,779,855 (GRCm39)	S634P	probably damaging	Het
Gpld1	C	A	13: 25,163,711 (GRCm39)	N501K	probably damaging	Het
Gsn	C	T	2: 35,192,590 (GRCm39)	R513C	probably damaging	Het
Gulp1	T	C	1: 44,827,757 (GRCm39)	F300L	probably benign	Het
H2aj	T	C	6: 136,785,660 (GRCm39)	V108A	possibly damaging	Het
Haus3	T	C	5: 34,325,414 (GRCm39)	R82G	probably benign	Het
Herc2	G	A	7: 55,872,734 (GRCm39)	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,553,130 (GRCm39)	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,171,014 (GRCm39)	I53V	probably benign	Het
Inpp5e	C	T	2: 26,287,924 (GRCm39)	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367 (GRCm39)	C491*	probably null	Het
Itpkb	C	A	1: 180,241,460 (GRCm39)	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,905,784 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,742,368 (GRCm39)		probably benign	Het
Lamb3	C	T	1: 193,014,622 (GRCm39)	R594*	probably null	Het
Map3k20	A	G	2: 72,232,700 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,624,472 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Nbeal1	A	G	1: 60,332,062 (GRCm39)	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,397,618 (GRCm39)	Y61H	probably damaging	Het
Npat	T	A	9: 53,481,789 (GRCm39)	L1166M	probably damaging	Het
Or12e1	A	C	2: 87,022,192 (GRCm39)	I54L	probably benign	Het
Or4c108	A	T	2: 88,804,055 (GRCm39)	F60Y	probably benign	Het
Or5ak20	A	T	2: 85,183,341 (GRCm39)	*310K	probably null	Het
Or5b97	C	T	19: 12,878,251 (GRCm39)	V298M	probably damaging	Het
Or5h22	C	T	16: 58,895,020 (GRCm39)	C141Y	probably benign	Het
Or5p66	A	C	7: 107,885,802 (GRCm39)	I177S	probably damaging	Het
Pcdhb3	T	C	18: 37,434,759 (GRCm39)	F242L	probably damaging	Het
Phip	A	G	9: 82,841,648 (GRCm39)	V57A	probably benign	Het
Plekha7	A	T	7: 115,788,626 (GRCm39)		probably null	Het
Pot1a	A	C	6: 25,753,205 (GRCm39)	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,831,126 (GRCm39)	P217L	probably damaging	Het
Prepl	A	G	17: 85,388,494 (GRCm39)	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,759,513 (GRCm39)	I175V	probably benign	Het
Ranbp6	A	T	19: 29,787,175 (GRCm39)	I1059N	possibly damaging	Het
Rhag	A	G	17: 41,122,242 (GRCm39)	Q59R	probably benign	Het
Sema4c	A	C	1: 36,592,651 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,542,656 (GRCm39)	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,019,220 (GRCm39)		probably null	Het
Tbrg1	A	T	9: 37,566,375 (GRCm39)	I54N	probably damaging	Het
Tchh	A	T	3: 93,352,993 (GRCm39)	E811V	unknown	Het
Tenm3	T	A	8: 48,754,006 (GRCm39)	D799V	probably damaging	Het
Tlr5	T	C	1: 182,801,764 (GRCm39)	L342P	probably damaging	Het
Tppp	C	T	13: 74,178,996 (GRCm39)	R146*	probably null	Het
Trpm4	A	T	7: 44,967,482 (GRCm39)	M574K	probably damaging	Het
Uggt1	A	T	1: 36,195,345 (GRCm39)	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,256,298 (GRCm39)	K1124N	probably damaging	Het
Usf3	A	C	16: 44,041,459 (GRCm39)	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,208,973 (GRCm39)	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,167,182 (GRCm39)	H650N	probably benign	Het
Vmn2r59	T	A	7: 41,695,218 (GRCm39)	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,187,396 (GRCm39)	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,910,892 (GRCm39)	R235*	probably null	Het

Other mutations in Cep57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Cep57	APN	9	13,730,312 (GRCm39)	missense	probably damaging	1.00
IGL01712:Cep57	APN	9	13,724,713 (GRCm39)	missense	possibly damaging	0.72
IGL01965:Cep57	APN	9	13,732,816 (GRCm39)	unclassified	probably benign
IGL02250:Cep57	APN	9	13,721,939 (GRCm39)	missense	probably damaging	1.00
IGL02378:Cep57	APN	9	13,732,842 (GRCm39)	nonsense	probably null
IGL02943:Cep57	APN	9	13,730,149 (GRCm39)	splice site	probably benign
IGL03244:Cep57	APN	9	13,729,683 (GRCm39)	nonsense	probably null
R0082:Cep57	UTSW	9	13,722,172 (GRCm39)	unclassified	probably benign
R0330:Cep57	UTSW	9	13,728,281 (GRCm39)	missense	probably damaging	1.00
R0786:Cep57	UTSW	9	13,721,166 (GRCm39)	missense	probably damaging	0.99
R0962:Cep57	UTSW	9	13,720,039 (GRCm39)	missense	possibly damaging	0.48
R1037:Cep57	UTSW	9	13,730,275 (GRCm39)	missense	possibly damaging	0.89
R1472:Cep57	UTSW	9	13,732,850 (GRCm39)	missense	probably benign	0.03
R1773:Cep57	UTSW	9	13,727,364 (GRCm39)	missense	probably damaging	1.00
R1776:Cep57	UTSW	9	13,730,170 (GRCm39)	missense	probably damaging	0.99
R4162:Cep57	UTSW	9	13,723,929 (GRCm39)	splice site	probably null
R4942:Cep57	UTSW	9	13,724,723 (GRCm39)	missense	probably damaging	0.96
R5310:Cep57	UTSW	9	13,730,164 (GRCm39)	missense	probably damaging	1.00
R5566:Cep57	UTSW	9	13,732,871 (GRCm39)	missense	probably damaging	0.99
R5996:Cep57	UTSW	9	13,721,175 (GRCm39)	missense	probably damaging	0.99
R6058:Cep57	UTSW	9	13,722,057 (GRCm39)	missense	possibly damaging	0.75
R7065:Cep57	UTSW	9	13,729,677 (GRCm39)	missense	probably damaging	1.00
R7410:Cep57	UTSW	9	13,729,980 (GRCm39)	intron	probably benign
R7421:Cep57	UTSW	9	13,721,969 (GRCm39)	missense	possibly damaging	0.77
R7945:Cep57	UTSW	9	13,730,227 (GRCm39)	missense	probably damaging	1.00
R8872:Cep57	UTSW	9	13,737,980 (GRCm39)	unclassified	probably benign
R9243:Cep57	UTSW	9	13,738,204 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTAAACTATCTGAGTCTCCACATG -3'
(R):5'- CCACTAGTGGCATGAACTGAC -3'

Sequencing Primer
(F):5'- ACTATCTGAGTCTCCACATGAATGTG -3'
(R):5'- ACAGGGTTTCTCTGTGTAGCCC -3'

Posted On

2016-03-17