Incidental Mutation 'R0962:Cep57'
ID 81274
Institutional Source Beutler Lab
Gene Symbol Cep57
Ensembl Gene ENSMUSG00000031922
Gene Name centrosomal protein 57
Synonyms 4931428M20Rik, 3110002L15Rik, Tsp57, 4921510P06Rik
MMRRC Submission 039091-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0962 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 13719088-13738403 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13720039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 429 (V429D)
Ref Sequence ENSEMBL: ENSMUSP00000114665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034396] [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134674] [ENSMUST00000147115] [ENSMUST00000148086] [ENSMUST00000155679] [ENSMUST00000144484] [ENSMUST00000150893] [ENSMUST00000134746] [ENSMUST00000142494]
AlphaFold Q8CEE0
Predicted Effect probably benign
Transcript: ENSMUST00000034396
SMART Domains Protein: ENSMUSP00000034396
Gene: ENSMUSG00000031918

DomainStartEndE-ValueType
low complexity region 41 55 N/A INTRINSIC
GRAM 65 139 1.57e-11 SMART
Pfam:Myotub-related 192 529 1.7e-152 PFAM
low complexity region 616 631 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000034398
AA Change: V456D

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922
AA Change: V456D

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 possibly damaging
Transcript: ENSMUST00000124883
AA Change: V307D

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922
AA Change: V307D

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 noncoding transcript
Transcript: ENSMUST00000131425
Predicted Effect probably benign
Transcript: ENSMUST00000134674
SMART Domains Protein: ENSMUSP00000121933
Gene: ENSMUSG00000031918

DomainStartEndE-ValueType
PDB:1M7R|B 1 62 2e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000147115
AA Change: V430D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922
AA Change: V430D

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 possibly damaging
Transcript: ENSMUST00000148086
AA Change: V429D

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922
AA Change: V429D

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: ENSMUST00000146901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148904
Predicted Effect probably benign
Transcript: ENSMUST00000155679
SMART Domains Protein: ENSMUSP00000115906
Gene: ENSMUSG00000031918

DomainStartEndE-ValueType
GRAM 3 67 6.19e-10 SMART
Pfam:Myotub-related 119 459 6.7e-152 PFAM
Pfam:Y_phosphatase 266 370 3.9e-6 PFAM
low complexity region 544 559 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 probably benign
Transcript: ENSMUST00000150893
SMART Domains Protein: ENSMUSP00000115338
Gene: ENSMUSG00000031922

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 probably benign
Transcript: ENSMUST00000151878
SMART Domains Protein: ENSMUSP00000116847
Gene: ENSMUSG00000031922

DomainStartEndE-ValueType
Pfam:Cep57_CLD 1 133 1.6e-43 PFAM
low complexity region 147 159 N/A INTRINSIC
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
SMART Domains Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.9%
  • 20x: 96.0%
Validation Efficiency 100% (56/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,202,129 (GRCm39) A196T probably damaging Het
Adamtsl4 T A 3: 95,591,798 (GRCm39) R97* probably null Het
Adgrv1 T C 13: 81,553,465 (GRCm39) I5470V probably benign Het
Afg3l2 T C 18: 67,538,497 (GRCm39) T754A possibly damaging Het
Agfg1 T C 1: 82,864,117 (GRCm39) F395S probably damaging Het
Ahnak A G 19: 8,990,212 (GRCm39) probably benign Het
Alkbh2 T C 5: 114,262,014 (GRCm39) K239E possibly damaging Het
Ankmy1 A T 1: 92,827,290 (GRCm39) C87* probably null Het
Apob A G 12: 8,039,191 (GRCm39) I461V probably damaging Het
Arap1 C T 7: 101,034,121 (GRCm39) P188S possibly damaging Het
Atp12a G A 14: 56,605,870 (GRCm39) E64K probably damaging Het
Brca1 A T 11: 101,416,192 (GRCm39) H647Q possibly damaging Het
Cachd1 A G 4: 100,840,498 (GRCm39) probably benign Het
Cfap299 T C 5: 98,714,420 (GRCm39) probably benign Het
Dip2a T C 10: 76,128,266 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,353,696 (GRCm39) N757K probably damaging Het
Dock7 G A 4: 98,833,432 (GRCm39) T1953I possibly damaging Het
Ebf3 T C 7: 136,826,932 (GRCm39) T111A probably damaging Het
Ercc4 T C 16: 12,948,010 (GRCm39) I319T probably damaging Het
Fat1 T C 8: 45,486,363 (GRCm39) probably benign Het
Gucy2g C T 19: 55,198,716 (GRCm39) W809* probably null Het
Hhipl1 A G 12: 108,293,980 (GRCm39) K629E probably benign Het
Hmbox1 A T 14: 65,134,223 (GRCm39) S126T probably benign Het
Htr1a A G 13: 105,580,832 (GRCm39) N24S probably benign Het
Htra3 T A 5: 35,825,700 (GRCm39) I185F probably damaging Het
Impg1 C T 9: 80,289,023 (GRCm39) D345N probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm7a A G 6: 39,124,128 (GRCm39) V720A probably benign Het
Kirrel3 A G 9: 34,912,293 (GRCm39) D212G possibly damaging Het
Lgals3bp A T 11: 118,283,846 (GRCm39) *139K probably null Het
Lrp11 T A 10: 7,466,060 (GRCm39) V82D probably benign Het
Mcf2l T C 8: 13,051,964 (GRCm39) Y425H probably benign Het
Mfn2 T C 4: 147,966,658 (GRCm39) N511S probably benign Het
Mical2 T C 7: 111,979,624 (GRCm39) S108P probably damaging Het
Ms4a6c C T 19: 11,448,506 (GRCm39) T13M probably benign Het
Naip2 C A 13: 100,315,893 (GRCm39) V296F probably damaging Het
Or2d36 T A 7: 106,747,294 (GRCm39) F257Y possibly damaging Het
Or51a5 A G 7: 102,771,217 (GRCm39) V254A possibly damaging Het
Or7e175 T A 9: 20,048,834 (GRCm39) C141S probably damaging Het
P3h2 T C 16: 25,815,998 (GRCm39) M172V probably benign Het
Pcolce2 T G 9: 95,552,087 (GRCm39) N73K probably benign Het
Pla2g4d A G 2: 120,111,098 (GRCm39) probably null Het
Ppfia3 A G 7: 44,997,146 (GRCm39) probably benign Het
Ptprcap A G 19: 4,206,463 (GRCm39) D182G possibly damaging Het
Rabgap1 T C 2: 37,450,481 (GRCm39) probably benign Het
Rpain G A 11: 70,865,867 (GRCm39) probably null Het
Sdk1 C T 5: 142,147,630 (GRCm39) T1754I probably damaging Het
Stag1 T A 9: 100,678,880 (GRCm39) L267Q probably damaging Het
Tex9 T C 9: 72,391,374 (GRCm39) T92A probably benign Het
Trpa1 T A 1: 14,968,387 (GRCm39) I460F possibly damaging Het
Ttn A T 2: 76,780,500 (GRCm39) Y1084N probably damaging Het
Utp6 A G 11: 79,832,694 (GRCm39) probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGAAAGTCTGCTCATGTCCAGTACG -3'
(R):5'- AGAATTCGAAGCCTGTCCCTCTCTC -3'

Sequencing Primer
(F):5'- CGTACATCGTTTATGACCAGTGAG -3'
(R):5'- gaagttgaggcagaagaatcaag -3'
Posted On 2013-11-07