Incidental Mutation 'IGL02943:Cep57'
ID 364630
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 # IGL02943
Quality Score
Status
Chromosome 9
Chromosomal Location 13719088-13738403 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 13730149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000144484] [ENSMUST00000148086] [ENSMUST00000147115] [ENSMUST00000150893]
AlphaFold Q8CEE0
Predicted Effect probably benign
Transcript: ENSMUST00000034398
SMART Domains Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922

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 benign
Transcript: ENSMUST00000124883
SMART Domains Protein: ENSMUSP00000119081
Gene: ENSMUSG00000031922

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
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
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: ENSMUST00000148086
SMART Domains Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922

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 probably benign
Transcript: ENSMUST00000147115
SMART Domains Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922

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: 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 noncoding transcript
Transcript: ENSMUST00000148904
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
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 T A 1: 87,054,091 (GRCm39) Y236* probably null Het
Ankrd13c C T 3: 157,653,564 (GRCm39) T134M probably damaging Het
Arhgef18 T C 8: 3,498,553 (GRCm39) S529P probably damaging Het
Cdkl2 T A 5: 92,185,103 (GRCm39) N96I possibly damaging Het
Chchd7 T C 4: 3,942,796 (GRCm39) Y44H probably damaging Het
Ciart T C 3: 95,786,314 (GRCm39) I254V possibly damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dlgap5 A G 14: 47,650,433 (GRCm39) probably null Het
Ednra T A 8: 78,446,683 (GRCm39) I132F probably damaging Het
En2 T C 5: 28,371,524 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,846,613 (GRCm39) R1102G probably damaging Het
Fsip2 C A 2: 82,822,701 (GRCm39) Q6145K probably benign Het
Galnt5 A T 2: 57,889,780 (GRCm39) D460V probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Gpr84 T C 15: 103,217,316 (GRCm39) I254V probably benign Het
Hacd3 A T 9: 64,897,718 (GRCm39) I298N probably damaging Het
Hyal6 T A 6: 24,743,438 (GRCm39) V378E probably damaging Het
Il20rb G T 9: 100,348,305 (GRCm39) H210N probably benign Het
Iqgap2 A G 13: 95,798,243 (GRCm39) probably benign Het
Itga1 C T 13: 115,185,832 (GRCm39) E57K possibly damaging Het
Jmjd1c T A 10: 67,055,433 (GRCm39) D571E probably damaging Het
Kmt2c T C 5: 25,495,821 (GRCm39) S623G probably damaging Het
L3mbtl2 T A 15: 81,570,456 (GRCm39) S645T possibly damaging Het
Lrp2 A G 2: 69,285,854 (GRCm39) V3779A possibly damaging Het
Lrpprc T C 17: 85,078,878 (GRCm39) R279G probably benign Het
Lurap1l A G 4: 80,871,872 (GRCm39) K122E probably damaging Het
Met T C 6: 17,535,928 (GRCm39) Y785H possibly damaging Het
Myh3 T C 11: 66,981,891 (GRCm39) F796L probably benign Het
Myo16 T C 8: 10,450,595 (GRCm39) probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nlrp4c T C 7: 6,068,974 (GRCm39) C292R probably damaging Het
Nmnat1 A G 4: 149,557,745 (GRCm39) L99P probably damaging Het
Or1j12 A T 2: 36,343,051 (GRCm39) L151F probably benign Het
Or5p64 A G 7: 107,854,623 (GRCm39) F241L possibly damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Phf20l1 A G 15: 66,466,733 (GRCm39) Y54C probably damaging Het
Postn T C 3: 54,285,029 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prdm2 A C 4: 142,858,542 (GRCm39) S1583A probably benign Het
Proser1 T C 3: 53,386,524 (GRCm39) V802A probably damaging Het
Ptprc A T 1: 138,027,251 (GRCm39) N532K probably damaging Het
Ptprk A G 10: 28,351,172 (GRCm39) H555R possibly damaging Het
Ranbp6 T C 19: 29,789,524 (GRCm39) D276G possibly damaging Het
Rasgrf2 A G 13: 92,131,752 (GRCm39) V635A probably damaging Het
Rbm5 T C 9: 107,621,542 (GRCm39) Y620C probably damaging Het
Sall1 C T 8: 89,757,749 (GRCm39) R785H probably damaging Het
Slc22a2 G T 17: 12,828,948 (GRCm39) L351F probably damaging Het
Sorcs3 A T 19: 48,748,377 (GRCm39) Q782L probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r107 T A 6: 131,636,369 (GRCm39) M227L probably damaging Het
Tecpr2 C T 12: 110,934,183 (GRCm39) T1281I probably benign Het
Topbp1 T A 9: 103,205,639 (GRCm39) V759E probably benign Het
Trim2 T C 3: 84,085,483 (GRCm39) T504A probably benign Het
Trpc1 A G 9: 95,590,906 (GRCm39) probably benign Het
Tssk4 T A 14: 55,889,023 (GRCm39) V183E probably damaging Het
Vmn1r202 T C 13: 22,686,364 (GRCm39) T18A probably benign Het
Vmn1r225 T C 17: 20,722,567 (GRCm39) S3P possibly damaging Het
Vmn2r101 T A 17: 19,831,666 (GRCm39) V554E probably damaging Het
Vps13a T C 19: 16,641,250 (GRCm39) I2291V probably damaging Het
Vps39 A G 2: 120,169,968 (GRCm39) S195P possibly damaging Het
Zfand4 T A 6: 116,250,837 (GRCm39) 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
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 2015-12-18