Incidental Mutation 'IGL02359:Cep55'
ID290434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep55
Ensembl Gene ENSMUSG00000024989
Gene Namecentrosomal protein 55
Synonyms1200008O12Rik, 2700032M20Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL02359
Quality Score
Status
Chromosome19
Chromosomal Location38055025-38074425 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38069868 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 303 (I303N)
Ref Sequence ENSEMBL: ENSMUSP00000127961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096096] [ENSMUST00000116506] [ENSMUST00000169673]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082712
Predicted Effect probably damaging
Transcript: ENSMUST00000096096
AA Change: I303N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093802
Gene: ENSMUSG00000024989
AA Change: I303N

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
coiled coil region 98 150 N/A INTRINSIC
Pfam:EABR 171 205 1.2e-22 PFAM
coiled coil region 229 395 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116506
AA Change: I303N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112205
Gene: ENSMUSG00000024989
AA Change: I303N

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
coiled coil region 98 150 N/A INTRINSIC
Pfam:EABR 171 205 1.2e-22 PFAM
coiled coil region 229 371 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169673
AA Change: I303N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127961
Gene: ENSMUSG00000024989
AA Change: I303N

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
coiled coil region 98 150 N/A INTRINSIC
Pfam:EABR 171 204 8.6e-22 PFAM
coiled coil region 229 395 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Cep55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Cep55 APN 19 38073439 missense probably damaging 1.00
R0079:Cep55 UTSW 19 38060321 missense probably benign 0.04
R0308:Cep55 UTSW 19 38060211 missense possibly damaging 0.94
R0377:Cep55 UTSW 19 38071889 nonsense probably null
R0725:Cep55 UTSW 19 38060174 missense possibly damaging 0.48
R0736:Cep55 UTSW 19 38073317 missense probably benign 0.21
R1842:Cep55 UTSW 19 38057900 missense probably benign 0.09
R2196:Cep55 UTSW 19 38069110 missense probably damaging 1.00
R2227:Cep55 UTSW 19 38062634 missense probably benign 0.37
R3832:Cep55 UTSW 19 38053112 unclassified probably benign
R4936:Cep55 UTSW 19 38071754 splice site probably null
R4938:Cep55 UTSW 19 38069916 missense probably damaging 1.00
R5246:Cep55 UTSW 19 38069671 missense probably benign 0.39
R5628:Cep55 UTSW 19 38069948 nonsense probably null
R5774:Cep55 UTSW 19 38062655 missense probably damaging 1.00
R6708:Cep55 UTSW 19 38060261 missense probably benign 0.23
R6787:Cep55 UTSW 19 38057926 missense probably benign 0.01
R7047:Cep55 UTSW 19 38060091 missense possibly damaging 0.65
R7187:Cep55 UTSW 19 38060358 critical splice donor site probably null
R7473:Cep55 UTSW 19 38069936 missense probably damaging 0.99
R7762:Cep55 UTSW 19 38069069 splice site probably null
R7863:Cep55 UTSW 19 38057799 start gained probably benign
X0023:Cep55 UTSW 19 38071867 nonsense probably null
Posted On2015-04-16