Incidental Mutation 'IGL02431:Cep78'
ID293146
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: 0.703) question?
Stock #IGL02431
Quality Score
Status
Chromosome19
Chromosomal Location15955774-15984989 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 15959579 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 588 (T588A)
Ref Sequence ENSEMBL: ENSMUSP00000037596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047704]
Predicted Effect probably benign
Transcript: ENSMUST00000047704
AA Change: T588A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: T588A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,659,424 N57S probably damaging Het
Abca17 T A 17: 24,298,984 I784L probably benign Het
Abcc1 T A 16: 14,419,734 V473E probably damaging Het
Agap3 A G 5: 24,501,012 E758G probably damaging Het
C6 A T 15: 4,759,861 K263* probably null Het
Col4a3 C T 1: 82,679,623 Q815* probably null Het
Dcaf10 A G 4: 45,342,630 M155V probably benign Het
Fam208b A G 13: 3,574,736 V1738A possibly damaging Het
Fam228b T C 12: 4,762,370 Y136C probably damaging Het
Fryl A T 5: 73,098,308 H793Q probably benign Het
Gm10134 T C 2: 28,506,417 probably benign Het
Gm6505 T C 3: 28,765,020 noncoding transcript Het
Il31ra A G 13: 112,530,296 F416S probably damaging Het
Lipc A G 9: 70,934,468 probably benign Het
Lrp4 A G 2: 91,476,637 K368E possibly damaging Het
Lrriq1 A T 10: 103,200,639 N884K probably damaging Het
Mrgprx1 T C 7: 48,021,127 R291G probably benign Het
Myo15 T A 11: 60,510,639 V3057E possibly damaging Het
Olfr738 T A 14: 50,413,769 I75N probably damaging Het
Olfr761 T A 17: 37,952,522 R167S probably benign Het
Postn A T 3: 54,375,096 I493F probably damaging Het
Ptpn22 C A 3: 103,903,397 F713L probably benign Het
Pygm T C 19: 6,388,118 V239A probably damaging Het
Rangrf C A 11: 68,972,739 C147F probably benign Het
Rnf112 C T 11: 61,450,379 R460H probably benign Het
Sh3d19 A G 3: 86,106,998 E423G probably damaging Het
Tipin A G 9: 64,301,185 K204E probably benign Het
Traf3ip1 A T 1: 91,499,635 Q109L unknown Het
Ttc21b A T 2: 66,251,885 probably benign Het
Ttn C A 2: 76,974,116 A271S probably benign Het
Vegfb C A 19: 6,986,018 probably null Het
Vmn1r15 T A 6: 57,258,903 L252H possibly damaging Het
Wipi1 A T 11: 109,603,791 V72D probably damaging Het
Zmym1 G A 4: 127,047,764 Q944* probably null Het
Other mutations in Cep78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Cep78 APN 19 15969140 missense probably benign
IGL00920:Cep78 APN 19 15981486 missense probably benign 0.03
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
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
R8059:Cep78 UTSW 19 15981512 missense probably benign 0.02
Posted On2015-04-16