Incidental Mutation 'IGL02943:Cep57'
ID364630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep57
Ensembl Gene ENSMUSG00000031922
Gene Namecentrosomal protein 57
Synonyms4931428M20Rik, Tsp57, 3110002L15Rik, 4921510P06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL02943
Quality Score
Status
Chromosome9
Chromosomal Location13807792-13827107 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 13818853 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034398] [ENSMUST00000124883] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000144484] [ENSMUST00000147115] [ENSMUST00000148086] [ENSMUST00000150893]
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: 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: 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 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
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
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
9530053A07Rik A G 7: 28,147,188 R1102G probably damaging Het
Akp3 T A 1: 87,126,369 Y236* probably null Het
Ankrd13c C T 3: 157,947,927 T134M probably damaging Het
Arhgef18 T C 8: 3,448,553 S529P probably damaging Het
Cdkl2 T A 5: 92,037,244 N96I possibly damaging Het
Chchd7 T C 4: 3,942,796 Y44H probably damaging Het
Ciart T C 3: 95,879,002 I254V possibly damaging Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Dlgap5 A G 14: 47,412,976 probably null Het
Ednra T A 8: 77,720,054 I132F probably damaging Het
En2 T C 5: 28,166,526 probably benign Het
Fsip2 C A 2: 82,992,357 Q6145K probably benign Het
Galnt5 A T 2: 57,999,768 D460V probably damaging Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gpr84 T C 15: 103,308,889 I254V probably benign Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Hyal6 T A 6: 24,743,439 V378E probably damaging Het
Il20rb G T 9: 100,466,252 H210N probably benign Het
Iqgap2 A G 13: 95,661,735 probably benign Het
Itga1 C T 13: 115,049,296 E57K possibly damaging Het
Jmjd1c T A 10: 67,219,654 D571E probably damaging Het
Kmt2c T C 5: 25,290,823 S623G probably damaging Het
L3mbtl2 T A 15: 81,686,255 S645T possibly damaging Het
Lrp2 A G 2: 69,455,510 V3779A possibly damaging Het
Lrpprc T C 17: 84,771,450 R279G probably benign Het
Lurap1l A G 4: 80,953,635 K122E probably damaging Het
Met T C 6: 17,535,929 Y785H possibly damaging Het
Myh3 T C 11: 67,091,065 F796L probably benign Het
Myo16 T C 8: 10,400,595 probably benign Het
Nedd4l T C 18: 65,161,652 probably null Het
Nlrp4c T C 7: 6,065,975 C292R probably damaging Het
Nmnat1 A G 4: 149,473,288 L99P probably damaging Het
Olfr340 A T 2: 36,453,039 L151F probably benign Het
Olfr488 A G 7: 108,255,416 F241L possibly damaging Het
Pclo T C 5: 14,669,221 V1124A unknown Het
Phf20l1 A G 15: 66,594,884 Y54C probably damaging Het
Postn T C 3: 54,377,608 probably null Het
Ppp2r1b A G 9: 50,883,585 D570G probably damaging Het
Prdm2 A C 4: 143,131,972 S1583A probably benign Het
Proser1 T C 3: 53,479,103 V802A probably damaging Het
Ptprc A T 1: 138,099,513 N532K probably damaging Het
Ptprk A G 10: 28,475,176 H555R possibly damaging Het
Ranbp6 T C 19: 29,812,124 D276G possibly damaging Het
Rasgrf2 A G 13: 91,983,633 V635A probably damaging Het
Rbm5 T C 9: 107,744,343 Y620C probably damaging Het
Sall1 C T 8: 89,031,121 R785H probably damaging Het
Slc22a2 G T 17: 12,610,061 L351F probably damaging Het
Sorcs3 A T 19: 48,759,938 Q782L probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r107 T A 6: 131,659,406 M227L probably damaging Het
Tecpr2 C T 12: 110,967,749 T1281I probably benign Het
Topbp1 T A 9: 103,328,440 V759E probably benign Het
Trim2 T C 3: 84,178,176 T504A probably benign Het
Trpc1 A G 9: 95,708,853 probably benign Het
Tssk4 T A 14: 55,651,566 V183E probably damaging Het
Vmn1r202 T C 13: 22,502,194 T18A probably benign Het
Vmn1r225 T C 17: 20,502,305 S3P possibly damaging Het
Vmn2r101 T A 17: 19,611,404 V554E probably damaging Het
Vps13a T C 19: 16,663,886 I2291V probably damaging Het
Vps39 A G 2: 120,339,487 S195P possibly damaging Het
Zfand4 T A 6: 116,273,876 probably benign Het
Other mutations in Cep57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Cep57 APN 9 13819016 missense probably damaging 1.00
IGL01712:Cep57 APN 9 13813417 missense possibly damaging 0.72
IGL01965:Cep57 APN 9 13821520 unclassified probably benign
IGL02250:Cep57 APN 9 13810643 missense probably damaging 1.00
IGL02378:Cep57 APN 9 13821546 nonsense probably null
IGL03244:Cep57 APN 9 13818387 nonsense probably null
R0082:Cep57 UTSW 9 13810876 unclassified probably benign
R0330:Cep57 UTSW 9 13816985 missense probably damaging 1.00
R0786:Cep57 UTSW 9 13809870 missense probably damaging 0.99
R0962:Cep57 UTSW 9 13808743 missense possibly damaging 0.48
R1037:Cep57 UTSW 9 13818979 missense possibly damaging 0.89
R1472:Cep57 UTSW 9 13821554 missense probably benign 0.03
R1773:Cep57 UTSW 9 13816068 missense probably damaging 1.00
R1776:Cep57 UTSW 9 13818874 missense probably damaging 0.99
R4162:Cep57 UTSW 9 13812633 splice site probably null
R4895:Cep57 UTSW 9 13816153 intron probably benign
R4942:Cep57 UTSW 9 13813427 missense probably damaging 0.96
R5310:Cep57 UTSW 9 13818868 missense probably damaging 1.00
R5566:Cep57 UTSW 9 13821575 missense probably damaging 0.99
R5996:Cep57 UTSW 9 13809879 missense probably damaging 0.99
R6058:Cep57 UTSW 9 13810761 missense possibly damaging 0.75
R7065:Cep57 UTSW 9 13818381 missense probably damaging 1.00
R7410:Cep57 UTSW 9 13818684 intron probably benign
R7421:Cep57 UTSW 9 13810673 missense possibly damaging 0.77
R7945:Cep57 UTSW 9 13818931 missense probably damaging 1.00
Posted On2015-12-18