Incidental Mutation 'IGL00920:Cep78'
ID29501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep78
Ensembl Gene ENSMUSG00000041491
Gene Namecentrosomal protein 78
Synonyms5730599I05Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.667) question?
Stock #IGL00920
Quality Score
Status
Chromosome19
Chromosomal Location15955774-15984989 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15981486 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 165 (I165V)
Ref Sequence ENSEMBL: ENSMUSP00000037596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047704]
Predicted Effect probably benign
Transcript: ENSMUST00000047704
AA Change: I165V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: I165V

DomainStartEndE-ValueType
LRR 152 179 2.95e-3 SMART
Blast:LRR 180 207 1e-10 BLAST
LRR 231 259 6.28e-1 SMART
LRR 260 287 8.81e-2 SMART
LRR 288 313 1.96e2 SMART
low complexity region 427 450 N/A INTRINSIC
coiled coil region 462 511 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181731
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209e T C 8: 3,849,187 D175G probably damaging Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Dpp9 T C 17: 56,200,599 T357A probably benign Het
Gm42416 T A 18: 36,952,767 M1K probably null Het
Gm428 T A 4: 73,687,442 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh5 A T 12: 74,976,493 D600E probably damaging Het
Ndst4 A G 3: 125,438,211 D143G probably damaging Het
Nrros A G 16: 32,147,620 F14S probably benign Het
Olfr1009 A T 2: 85,722,239 Y278F probably damaging Het
Olfr971 T C 9: 39,839,934 F167L probably benign Het
Pcdh7 A T 5: 57,720,131 I343F probably damaging Het
Piwil4 C T 9: 14,727,437 R264H probably damaging Het
Pnpt1 A G 11: 29,157,087 probably benign Het
Pycr2 T A 1: 180,906,393 probably benign Het
Rfx7 T A 9: 72,593,356 Y133N probably damaging Het
Slc17a3 A G 13: 23,856,481 I263V probably benign Het
Spink5 A T 18: 44,003,209 E562D probably damaging Het
Spty2d1 T C 7: 46,998,987 R65G probably damaging Het
Thbs1 C T 2: 118,113,201 T100I probably damaging Het
Triml1 T C 8: 43,138,682 N213S probably damaging Het
Trp53bp2 T C 1: 182,444,654 probably benign Het
Vmn2r9 T C 5: 108,848,024 I253V possibly damaging Het
Zan C T 5: 137,464,524 V798I unknown Het
Zfp608 C T 18: 54,889,831 M1504I probably benign Het
Other mutations in Cep78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Cep78 APN 19 15969140 missense probably benign
IGL01548:Cep78 APN 19 15981200 splice site probably benign
IGL01662:Cep78 APN 19 15960995 missense probably damaging 1.00
IGL01933:Cep78 APN 19 15955940 missense probably benign
IGL02014:Cep78 APN 19 15984738 missense probably damaging 1.00
IGL02198:Cep78 APN 19 15956369 missense probably damaging 1.00
IGL02331:Cep78 APN 19 15974415 missense probably benign 0.16
IGL02431:Cep78 APN 19 15959579 missense probably benign
IGL02731:Cep78 APN 19 15956306 missense probably benign 0.02
IGL03268:Cep78 APN 19 15974442 nonsense probably null
IGL03338:Cep78 APN 19 15959623 missense probably damaging 0.97
himalayas UTSW 19 15969128 missense possibly damaging 0.66
R0426:Cep78 UTSW 19 15970970 nonsense probably null
R0619:Cep78 UTSW 19 15978862 missense probably damaging 0.99
R0659:Cep78 UTSW 19 15956190 missense probably damaging 0.97
R1517:Cep78 UTSW 19 15959663 missense probably damaging 1.00
R1758:Cep78 UTSW 19 15959536 missense probably damaging 1.00
R1836:Cep78 UTSW 19 15969169 missense probably damaging 1.00
R1865:Cep78 UTSW 19 15956004 missense probably damaging 1.00
R1920:Cep78 UTSW 19 15974351 splice site probably benign
R2483:Cep78 UTSW 19 15960980 missense probably damaging 1.00
R2958:Cep78 UTSW 19 15978909 missense probably damaging 1.00
R3814:Cep78 UTSW 19 15981802 critical splice acceptor site probably null
R4133:Cep78 UTSW 19 15969155 missense probably damaging 1.00
R4214:Cep78 UTSW 19 15959579 missense probably benign
R5783:Cep78 UTSW 19 15956359 missense probably benign 0.02
R5791:Cep78 UTSW 19 15961072 missense probably benign 0.19
R5910:Cep78 UTSW 19 15969128 missense possibly damaging 0.66
R5924:Cep78 UTSW 19 15961066 missense probably damaging 1.00
R6148:Cep78 UTSW 19 15981786 nonsense probably null
R6162:Cep78 UTSW 19 15974940 missense probably benign 0.28
R6235:Cep78 UTSW 19 15976486 intron probably null
R6968:Cep78 UTSW 19 15981738 missense probably benign 0.38
R7228:Cep78 UTSW 19 15969197 missense probably benign 0.01
R7913:Cep78 UTSW 19 15970577 missense probably benign
R7994:Cep78 UTSW 19 15970577 missense probably benign
Posted On2013-04-17