Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Cep57'

436830

Institutional Source

Beutler Lab

Gene Symbol

Cep57

Ensembl Gene

ENSMUSG00000031922

Gene Name

centrosomal protein 57

Synonyms

4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13719088-13738403 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13732871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 25 (R25S)

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: R52S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: R52S

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

possibly damaging
Transcript: ENSMUST00000134746
AA Change: R52S

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922
AA Change: R52S

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 damaging
Transcript: ENSMUST00000142494
AA Change: R52S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922
AA Change: R52S

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 damaging
Transcript: ENSMUST00000147115
AA Change: R52S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: R52S

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: R25S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: R25S

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,244,615 (GRCm39)	Y2159*	probably null	Het
Abca3	A	G	17: 24,602,901 (GRCm39)	T499A	probably benign	Het
Abcb5	T	A	12: 118,899,702 (GRCm39)	T322S	probably damaging	Het
Adamts4	T	A	1: 171,078,419 (GRCm39)	M1K	probably null	Het
Adamtsl4	C	T	3: 95,592,765 (GRCm39)		probably null	Het
Adh4	A	T	3: 138,129,950 (GRCm39)	I259F	probably damaging	Het
Aff3	G	A	1: 38,220,505 (GRCm39)	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,370,105 (GRCm39)	D280G	probably benign	Het
Baiap3	T	C	17: 25,470,707 (GRCm39)	E71G	probably damaging	Het
Calb2	A	G	8: 110,879,332 (GRCm39)	I91T	possibly damaging	Het
Ccr5	A	G	9: 123,924,697 (GRCm39)	N100S	probably benign	Het
Chadl	A	G	15: 81,580,079 (GRCm39)	L52P	probably damaging	Het
Clec12b	T	C	6: 129,362,438 (GRCm39)	T6A	probably damaging	Het
Cnga1	T	A	5: 72,775,593 (GRCm39)	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,628,316 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,356,682 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,411,300 (GRCm39)		probably null	Het
Cyp39a1	T	A	17: 43,996,099 (GRCm39)	W224R	possibly damaging	Het
Defb29	A	T	2: 152,380,848 (GRCm39)	Y54N	probably benign	Het
Dmbt1	A	T	7: 130,708,003 (GRCm39)	D1241V	probably damaging	Het
Dnah1	A	T	14: 30,996,323 (GRCm39)	I2671K	probably benign	Het
Dnah2	C	A	11: 69,407,395 (GRCm39)	E158*	probably null	Het
Dynlt2b	A	G	16: 32,238,718 (GRCm39)	Y31C	probably damaging	Het
Edar	A	G	10: 58,464,463 (GRCm39)	S59P	possibly damaging	Het
Egr2	T	A	10: 67,376,596 (GRCm39)	C339*	probably null	Het
Eif5b	G	A	1: 38,084,765 (GRCm39)	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,090,328 (GRCm39)	G1169E	probably damaging	Het
Erap1	A	G	13: 74,810,531 (GRCm39)	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,544,849 (GRCm39)	V338M	probably damaging	Het
Gabra6	T	C	11: 42,198,317 (GRCm39)	T378A	probably benign	Het
Gm4924	C	A	10: 82,214,475 (GRCm39)	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,545,000 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,543,919 (GRCm39)	F429S	probably damaging	Het
Gpr162	G	A	6: 124,837,901 (GRCm39)	R250*	probably null	Het
Gtf2a1	A	T	12: 91,534,368 (GRCm39)	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Herc1	T	A	9: 66,372,819 (GRCm39)	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,191,580 (GRCm39)	Y167*	probably null	Het
Hrob	T	A	11: 102,146,659 (GRCm39)	S312T	probably damaging	Het
Htt	T	C	5: 35,006,419 (GRCm39)	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,224,470 (GRCm39)	D28G	probably damaging	Het
Impact	T	G	18: 13,107,819 (GRCm39)	V29G	probably damaging	Het
Itpr3	A	G	17: 27,334,926 (GRCm39)	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,676,554 (GRCm39)	L50Q	probably damaging	Het
Jade1	A	G	3: 41,559,338 (GRCm39)	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,123,788 (GRCm39)	L131R	probably damaging	Het
Kif2a	A	T	13: 107,130,432 (GRCm39)	M1K	probably null	Het
Lrsam1	C	A	2: 32,831,870 (GRCm39)	Q368H	probably damaging	Het
Macf1	T	C	4: 123,328,957 (GRCm39)	Q4592R	probably damaging	Het
Map3k5	T	C	10: 19,986,465 (GRCm39)	V893A	probably damaging	Het
Med13l	G	T	5: 118,866,730 (GRCm39)	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,761,211 (GRCm39)	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,495,356 (GRCm39)	L471P	probably damaging	Het
Myo7a	T	C	7: 97,714,023 (GRCm39)	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,552,136 (GRCm39)	S352C	probably damaging	Het
Nfat5	T	A	8: 108,095,767 (GRCm39)	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,248,129 (GRCm39)	L668F	probably damaging	Het
Or12j2	C	A	7: 139,915,980 (GRCm39)	D68E	probably damaging	Het
Or7e178	T	C	9: 20,225,265 (GRCm39)	Q309R	probably benign	Het
Or8j3c	G	A	2: 86,253,721 (GRCm39)	Q100*	probably null	Het
Plxnb2	T	C	15: 89,048,223 (GRCm39)	T696A	probably benign	Het
Prkab2	T	A	3: 97,569,609 (GRCm39)	F58L	probably benign	Het
Prpf4	G	T	4: 62,334,206 (GRCm39)	L220F	probably benign	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Raet1e	T	C	10: 22,050,304 (GRCm39)	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,336,630 (GRCm39)	T1089P	possibly damaging	Het
Rest	A	G	5: 77,430,173 (GRCm39)	E864G	probably benign	Het
Rgsl1	T	A	1: 153,669,520 (GRCm39)	I289F	probably damaging	Het
Rint1	T	C	5: 24,015,951 (GRCm39)	Y406H	probably damaging	Het
Rmc1	T	C	18: 12,313,749 (GRCm39)	I26T	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scn8a	T	C	15: 100,872,415 (GRCm39)	S485P	probably damaging	Het
Slamf1	T	A	1: 171,615,538 (GRCm39)	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,412,414 (GRCm39)	T362I	possibly damaging	Het
Sos1	C	T	17: 80,761,319 (GRCm39)	V126I	possibly damaging	Het
Srcap	T	C	7: 127,124,475 (GRCm39)	F215S	probably damaging	Het
Supt4a	T	A	11: 87,634,113 (GRCm39)	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,138,015 (GRCm39)	T232S	probably damaging	Het
Tenm3	A	G	8: 48,732,041 (GRCm39)	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,191,356 (GRCm39)	L100*	probably null	Het
Tgm1	C	A	14: 55,949,893 (GRCm39)	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,593,018 (GRCm39)	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,399,552 (GRCm39)	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,015,251 (GRCm39)	F320I	possibly damaging	Het
Tut7	A	T	13: 59,936,443 (GRCm39)	C817*	probably null	Het
Vmn1r21	A	C	6: 57,821,079 (GRCm39)	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,614,407 (GRCm39)	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,852,290 (GRCm39)	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,247 (GRCm39)	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 85,875,286 (GRCm39)	Y564N	probably damaging	Het
Wee1	G	T	7: 109,725,257 (GRCm39)	E300*	probably null	Het
Xdh	T	C	17: 74,200,617 (GRCm39)	D1168G	probably damaging	Het
Zfp54	A	G	17: 21,653,706 (GRCm39)	T67A	probably damaging	Het
Zfp941	G	T	7: 140,392,679 (GRCm39)	H227N	probably benign	Het
Zpr1	T	A	9: 46,192,373 (GRCm39)	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,161,461 (GRCm39)	E285G	probably damaging	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
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
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'- GTGTCTCAAAGTACTTTAGGTTCC -3'
(R):5'- CAATAAATAGTGGTTGGGTTCTCAGTC -3'

Sequencing Primer
(F):5'- GTTCAGCAGTCTACATGAAAAGC -3'
(R):5'- AGCTGAACCATCAAGGTC -3'

Posted On

2016-10-24