Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Cep57'

165005

Institutional Source

Beutler Lab

Gene Symbol

Cep57

Ensembl Gene

ENSMUSG00000031922

Gene Name

centrosomal protein 57

Synonyms

4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13719088-13738403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13732850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 32 (F32I)

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 benign
Transcript: ENSMUST00000034398
AA Change: F59I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: F59I

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

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: F59I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922
AA Change: F59I

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
AA Change: F59I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922
AA Change: F59I

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: F59I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: F59I

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 benign
Transcript: ENSMUST00000148086
AA Change: F32I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: F32I

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: 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: 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: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,773,313 (GRCm39)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,520,313 (GRCm39)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,470,754 (GRCm39)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bmp10	A	G	6: 87,410,779 (GRCm39)	I191V	probably benign	Het
C2cd6	A	T	1: 59,106,944 (GRCm39)	S294T	possibly damaging	Het
C4b	T	A	17: 34,962,743 (GRCm39)	K20*	probably null	Het
Caps2	C	T	10: 112,015,377 (GRCm39)	T139I	probably benign	Het
Cdc25a	T	C	9: 109,705,157 (GRCm39)	S34P	probably benign	Het
Cenpv	T	C	11: 62,427,121 (GRCm39)	I146V	probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntrl	T	C	2: 35,059,329 (GRCm39)		probably null	Het
Cpd	A	G	11: 76,675,224 (GRCm39)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,752,092 (GRCm39)	V283A	probably benign	Het
Crot	A	G	5: 9,016,941 (GRCm39)	C584R	probably damaging	Het
Ctsc	A	C	7: 87,930,670 (GRCm39)	H83P	possibly damaging	Het
Dido1	T	C	2: 180,302,513 (GRCm39)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,602,821 (GRCm39)	Q148*	probably null	Het
Dnah3	T	C	7: 119,670,181 (GRCm39)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,843,472 (GRCm39)	E138G	probably benign	Het
Edc4	T	A	8: 106,619,460 (GRCm39)	M1396K	probably damaging	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,715,255 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,333,199 (GRCm39)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,700,127 (GRCm39)	T103K	probably damaging	Het
Kifc3	A	G	8: 95,864,541 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,615,102 (GRCm39)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,915,718 (GRCm39)	M98K	probably damaging	Het
Map3k21	T	C	8: 126,668,417 (GRCm39)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,319,791 (GRCm39)	T220A	probably benign	Het
Mettl13	C	T	1: 162,364,736 (GRCm39)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,767,860 (GRCm39)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,978,137 (GRCm39)	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,214,681 (GRCm39)	R123*	probably null	Het
Mstn	T	A	1: 53,101,157 (GRCm39)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,191 (GRCm39)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,561,905 (GRCm39)	V114F	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Myocd	G	T	11: 65,078,330 (GRCm39)	H360Q	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nav3	T	C	10: 109,563,802 (GRCm39)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 106,781,910 (GRCm39)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,503,408 (GRCm39)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,986,900 (GRCm39)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm39)	R307*	probably null	Het
Or5h19	A	T	16: 58,856,920 (GRCm39)	L60Q	probably damaging	Het
Or9i1b	T	C	19: 13,897,208 (GRCm39)	S275P	probably damaging	Het
Parp9	T	G	16: 35,774,050 (GRCm39)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,289,533 (GRCm39)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,263,360 (GRCm39)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm39)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,866,033 (GRCm39)	H305L	probably damaging	Het
Prss47	A	G	13: 65,197,103 (GRCm39)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rcn2	C	T	9: 55,963,537 (GRCm39)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,396,361 (GRCm39)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,665,436 (GRCm39)	L196P	probably damaging	Het
Sik2	A	G	9: 50,920,111 (GRCm39)	I22T	probably damaging	Het
Sis	A	G	3: 72,796,360 (GRCm39)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,110,916 (GRCm39)	F437S	probably benign	Het
Slc39a13	A	T	2: 90,899,050 (GRCm39)	C20*	probably null	Het
Sos2	C	T	12: 69,632,090 (GRCm39)		probably null	Het
Sst	A	G	16: 23,709,448 (GRCm39)	V16A	probably benign	Het
Stab1	C	T	14: 30,863,543 (GRCm39)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sugct	A	T	13: 17,627,131 (GRCm39)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm39)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,663,382 (GRCm39)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,855,322 (GRCm39)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,980,973 (GRCm39)	N277S	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,031,930 (GRCm39)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,597,196 (GRCm39)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Wnt5b	G	A	6: 119,410,442 (GRCm39)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,319,356 (GRCm39)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,168,695 (GRCm39)	N935D	unknown	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,582,468 (GRCm39)	V372A	possibly damaging	Het
Zmym2	C	T	14: 57,148,640 (GRCm39)	S318L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- gccACAAAGCATGGGAACAGAAAC -3'
(R):5'- ttCTTTACCGATGATTGAGTGATTCAGCA -3'

Sequencing Primer
(F):5'- gcagctaatgctcttaactcc -3'
(R):5'- GACAATAAATAGTGGTTGGGTTCTC -3'

Posted On

2014-03-28