Incidental Mutation 'R1773:Cep57'
ID 196822
Institutional Source Beutler Lab
Gene Symbol Cep57
Ensembl Gene ENSMUSG00000031922
Gene Name centrosomal protein 57
Synonyms 4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik
MMRRC Submission 039804-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1773 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 13719088-13738403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13727364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 202 (A202V)
Ref Sequence ENSEMBL: ENSMUSP00000114665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000144484] [ENSMUST00000147115] [ENSMUST00000150893] [ENSMUST00000148086]
AlphaFold Q8CEE0
Predicted Effect probably damaging
Transcript: ENSMUST00000034398
AA Change: A229V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: A229V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000124883
AA Change: A80V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922
AA Change: A80V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Cep57_CLD 68 209 1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142494
AA Change: A229V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922
AA Change: A229V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000147115
AA Change: A229V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: A229V

DomainStartEndE-ValueType
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: ENSMUST00000150893
AA Change: A80V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000115338
Gene: ENSMUSG00000031922
AA Change: A80V

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000151878
AA Change: A118V
SMART Domains Protein: ENSMUSP00000116847
Gene: ENSMUSG00000031922
AA Change: A118V

DomainStartEndE-ValueType
Pfam:Cep57_CLD 1 133 1.6e-43 PFAM
low complexity region 147 159 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000148086
AA Change: A202V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: A202V

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,280,020 (GRCm39) K334E probably damaging Het
Abca12 A G 1: 71,327,755 (GRCm39) Y1442H probably damaging Het
Acot12 A G 13: 91,905,676 (GRCm39) T79A probably benign Het
Adipoq A C 16: 22,973,988 (GRCm39) Q26P unknown Het
Afg2a T C 3: 37,493,334 (GRCm39) F515L probably damaging Het
Akap13 T A 7: 75,333,199 (GRCm39) N1582K possibly damaging Het
Alg9 A G 9: 50,690,396 (GRCm39) T133A probably benign Het
Anks3 T C 16: 4,765,158 (GRCm39) T418A probably benign Het
Ano3 A C 2: 110,591,800 (GRCm39) L37R probably damaging Het
Ano9 A G 7: 140,688,291 (GRCm39) F178L possibly damaging Het
Arhgef12 A G 9: 42,916,838 (GRCm39) probably null Het
Arl16 T A 11: 120,356,589 (GRCm39) I137F possibly damaging Het
Brpf1 T A 6: 113,296,892 (GRCm39) S959T possibly damaging Het
Ccdc27 C T 4: 154,126,222 (GRCm39) R89Q unknown Het
Cd109 A C 9: 78,611,006 (GRCm39) Q1207H probably benign Het
Cd14 A T 18: 36,858,357 (GRCm39) V366D possibly damaging Het
Cep290 G A 10: 100,346,435 (GRCm39) V538I probably benign Het
Chl1 T C 6: 103,624,292 (GRCm39) probably null Het
Cmah T G 13: 24,601,282 (GRCm39) F29L probably benign Het
Cracd G T 5: 77,015,052 (GRCm39) A42S possibly damaging Het
Crybg1 A G 10: 43,868,544 (GRCm39) V1378A possibly damaging Het
Cryzl2 A G 1: 157,298,292 (GRCm39) K227R probably benign Het
D130043K22Rik T G 13: 25,066,585 (GRCm39) V794G possibly damaging Het
Ddx4 T A 13: 112,736,436 (GRCm39) T645S probably benign Het
Dhcr7 C T 7: 143,401,195 (GRCm39) R453C possibly damaging Het
Dhx8 T C 11: 101,643,189 (GRCm39) Y754H possibly damaging Het
Dip2b T A 15: 100,091,842 (GRCm39) D860E probably benign Het
Dnah7a T C 1: 53,472,046 (GRCm39) probably null Het
Dst A G 1: 34,330,980 (GRCm39) D6937G probably damaging Het
Dusp1 A G 17: 26,726,081 (GRCm39) I204T probably damaging Het
Dync2h1 T A 9: 7,128,256 (GRCm39) Q1859L probably damaging Het
E4f1 C A 17: 24,665,558 (GRCm39) G328V probably damaging Het
Eml5 T C 12: 98,765,098 (GRCm39) Y1617C probably damaging Het
Espn G T 4: 152,212,686 (GRCm39) P622Q probably damaging Het
Fam184b G A 5: 45,741,676 (GRCm39) P185L possibly damaging Het
Fn1 T A 1: 71,676,542 (GRCm39) D563V probably damaging Het
Gad2 A G 2: 22,580,219 (GRCm39) Y540C probably benign Het
Garin1b T C 6: 29,334,152 (GRCm39) S335P possibly damaging Het
Gdf11 T C 10: 128,727,163 (GRCm39) D131G probably damaging Het
Gm19965 T A 1: 116,748,989 (GRCm39) Y223* probably null Het
H2-M10.6 A G 17: 37,123,076 (GRCm39) K3R probably benign Het
Hid1 A G 11: 115,239,336 (GRCm39) Y776H probably damaging Het
Hivep3 A T 4: 119,956,034 (GRCm39) K1450I probably damaging Het
Icam5 T C 9: 20,944,821 (GRCm39) L128P possibly damaging Het
Idnk T C 13: 58,305,526 (GRCm39) V9A probably damaging Het
Il4ra A T 7: 125,166,354 (GRCm39) T33S possibly damaging Het
Ino80 A G 2: 119,248,890 (GRCm39) V990A probably benign Het
Krtap4-9 T C 11: 99,676,396 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,664,184 (GRCm39) I1974V possibly damaging Het
Mcm3ap C T 10: 76,306,994 (GRCm39) A369V probably benign Het
Nek6 A G 2: 38,472,431 (GRCm39) M252V probably benign Het
Nfasc T A 1: 132,538,577 (GRCm39) I443F probably damaging Het
Nme8 T G 13: 19,881,206 (GRCm39) M1L probably damaging Het
Npnt T A 3: 132,610,454 (GRCm39) Q423L possibly damaging Het
Nup133 A T 8: 124,657,722 (GRCm39) C404* probably null Het
Or2b7 T C 13: 21,739,982 (GRCm39) D70G probably damaging Het
Or4c124 A G 2: 89,156,086 (GRCm39) V146A probably benign Het
Or4f14b A G 2: 111,775,204 (GRCm39) V199A possibly damaging Het
Or56a4 T C 7: 104,806,190 (GRCm39) E233G probably benign Het
Or5an1c T C 19: 12,219,023 (GRCm39) M1V probably null Het
Or6c213 A G 10: 129,574,312 (GRCm39) L158S probably damaging Het
Otog T A 7: 45,937,583 (GRCm39) I1764N probably benign Het
Oxa1l A G 14: 54,600,909 (GRCm39) I127M probably benign Het
P4hb C A 11: 120,463,552 (GRCm39) V28F probably damaging Het
Pbld2 C T 10: 62,890,150 (GRCm39) A186V probably benign Het
Pdzph1 G T 17: 59,281,808 (GRCm39) T158K probably damaging Het
Pgm2 T A 5: 64,265,194 (GRCm39) probably null Het
Phip A T 9: 82,758,242 (GRCm39) S1484T probably benign Het
Pikfyve T C 1: 65,231,430 (GRCm39) L100P probably damaging Het
Pikfyve T C 1: 65,285,529 (GRCm39) S923P probably benign Het
Pla2g4e A G 2: 120,075,202 (GRCm39) S63P probably benign Het
Plekhh2 A G 17: 84,906,693 (GRCm39) E1176G probably damaging Het
Prlr T A 15: 10,325,404 (GRCm39) Y192* probably null Het
Pten T A 19: 32,775,472 (GRCm39) C71S probably damaging Het
Rbbp8nl A G 2: 179,922,987 (GRCm39) L202P probably benign Het
Ripor2 T A 13: 24,885,237 (GRCm39) S491T probably benign Het
Robo1 A T 16: 72,801,399 (GRCm39) I1008F probably benign Het
Scg2 T C 1: 79,413,352 (GRCm39) N417S probably benign Het
Scn8a A G 15: 100,937,496 (GRCm39) I1581V probably damaging Het
Slc22a8 T A 19: 8,571,593 (GRCm39) I108N probably damaging Het
Slc9a8 A T 2: 167,313,385 (GRCm39) T416S possibly damaging Het
Spata32 T A 11: 103,099,644 (GRCm39) E287V probably damaging Het
Tgfbrap1 C T 1: 43,114,512 (GRCm39) G196D probably damaging Het
Tgm5 G T 2: 120,908,131 (GRCm39) T15K possibly damaging Het
Tmc1 C T 19: 20,803,865 (GRCm39) probably null Het
Tmem177 T C 1: 119,838,306 (GRCm39) I124M possibly damaging Het
Trim30a A G 7: 104,085,108 (GRCm39) F34S probably damaging Het
Tsn T C 1: 118,232,969 (GRCm39) T112A probably benign Het
Tspyl5 T G 15: 33,686,922 (GRCm39) N341T probably benign Het
Vmn2r108 C T 17: 20,689,335 (GRCm39) C540Y probably damaging Het
Vrtn C T 12: 84,696,998 (GRCm39) R583W probably damaging Het
Wnt1 T C 15: 98,689,638 (GRCm39) S142P probably damaging Het
Wrn A T 8: 33,833,589 (GRCm39) I108N probably damaging Het
Zfhx2 A C 14: 55,310,348 (GRCm39) C733G possibly damaging Het
Zfp219 T C 14: 52,244,563 (GRCm39) T539A probably damaging Het
Zswim8 T A 14: 20,761,598 (GRCm39) M177K probably damaging Het
Other mutations in Cep57
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCGGCTCCAACCTCAAAGGTTT -3'
(R):5'- GGCAAGTGGTAGGGATATTATCAAGGC -3'

Sequencing Primer
(F):5'- TGAAACATCGAAAGAACTGCTC -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On 2014-05-23