Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00690:Cep57'

9628

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep57

Ensembl Gene

ENSMUSG00000031922

Gene Name

centrosomal protein 57

Synonyms

4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL00690

Quality Score

Status

Chromosome

Chromosomal Location

13719088-13738403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13730312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 48 (N48K)

Ref Sequence

ENSEMBL: ENSMUSP00000114665 (fasta)

Gene Model

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

AlphaFold

Q8CEE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034398
AA Change: N75K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: N75K

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
AA Change: N75K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922
AA Change: N75K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142494
AA Change: N75K

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922
AA Change: N75K

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
AA Change: N75K

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: N75K

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

probably damaging
Transcript: ENSMUST00000148086
AA Change: N48K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: N48K

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

noncoding transcript
Transcript: ENSMUST00000148904

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

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

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 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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,078,336 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,571,151 (GRCm39)	V1164A	probably damaging	Het
Arhgef9	C	T	X: 94,125,285 (GRCm39)	C177Y	probably damaging	Het
Ascc3	C	T	10: 50,576,039 (GRCm39)	Q765*	probably null	Het
Brwd1	A	G	16: 95,818,786 (GRCm39)	Y1349H	probably damaging	Het
Crlf3	A	G	11: 79,950,163 (GRCm39)	S156P	probably damaging	Het
Edn2	G	A	4: 120,020,649 (GRCm39)	R92H	probably damaging	Het
Eml2	T	A	7: 18,940,068 (GRCm39)	W647R	probably damaging	Het
Gcm1	A	T	9: 77,972,298 (GRCm39)	D413V	probably benign	Het
Med1	A	C	11: 98,060,226 (GRCm39)	D234E	possibly damaging	Het
Nfatc4	T	C	14: 56,070,019 (GRCm39)	F729S	probably damaging	Het
Pcbd1	T	C	10: 60,928,469 (GRCm39)		probably benign	Het
Pramel28	G	T	4: 143,692,392 (GRCm39)	P203Q	possibly damaging	Het
Serpina3c	A	T	12: 104,118,198 (GRCm39)	L47M	possibly damaging	Het
Strn3	T	C	12: 51,657,221 (GRCm39)	I631V	possibly damaging	Het
Trp53bp1	A	G	2: 121,066,476 (GRCm39)	I750T	probably damaging	Het

Other mutations in Cep57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4895:Cep57	UTSW	9	13,727,449 (GRCm39)	intron	probably benign
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

Posted On

2012-12-06