Incidental Mutation 'IGL02431:Cep78'
ID 293146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep78
Ensembl Gene ENSMUSG00000041491
Gene Name centrosomal protein 78
Synonyms 5730599I05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.766) question?
Stock # IGL02431
Quality Score
Status
Chromosome 19
Chromosomal Location 15933137-15962353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15936943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 588 (T588A)
Ref Sequence ENSEMBL: ENSMUSP00000037596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047704]
AlphaFold Q6IRU7
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
Abca17 T A 17: 24,517,958 (GRCm39) I784L probably benign Het
Abcc1 T A 16: 14,237,598 (GRCm39) V473E probably damaging Het
Agap3 A G 5: 24,706,010 (GRCm39) E758G probably damaging Het
C6 A T 15: 4,789,343 (GRCm39) K263* probably null Het
Cfap20dc T C 14: 8,659,424 (GRCm38) N57S probably damaging Het
Col4a3 C T 1: 82,657,344 (GRCm39) Q815* probably null Het
Dcaf10 A G 4: 45,342,630 (GRCm39) M155V probably benign Het
Fam228b T C 12: 4,812,370 (GRCm39) Y136C probably damaging Het
Fryl A T 5: 73,255,651 (GRCm39) H793Q probably benign Het
Gm10134 T C 2: 28,396,429 (GRCm39) probably benign Het
Gm6505 T C 3: 28,819,169 (GRCm39) noncoding transcript Het
Il31ra A G 13: 112,666,830 (GRCm39) F416S probably damaging Het
Lipc A G 9: 70,841,750 (GRCm39) probably benign Het
Lrp4 A G 2: 91,306,982 (GRCm39) K368E possibly damaging Het
Lrriq1 A T 10: 103,036,500 (GRCm39) N884K probably damaging Het
Mrgprx1 T C 7: 47,670,875 (GRCm39) R291G probably benign Het
Myo15a T A 11: 60,401,465 (GRCm39) V3057E possibly damaging Het
Or11g1 T A 14: 50,651,226 (GRCm39) I75N probably damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Postn A T 3: 54,282,517 (GRCm39) I493F probably damaging Het
Ptpn22 C A 3: 103,810,713 (GRCm39) F713L probably benign Het
Pygm T C 19: 6,438,148 (GRCm39) V239A probably damaging Het
Rangrf C A 11: 68,863,565 (GRCm39) C147F probably benign Het
Rnf112 C T 11: 61,341,205 (GRCm39) R460H probably benign Het
Sh3d19 A G 3: 86,014,305 (GRCm39) E423G probably damaging Het
Tasor2 A G 13: 3,624,736 (GRCm39) V1738A possibly damaging Het
Tipin A G 9: 64,208,467 (GRCm39) K204E probably benign Het
Traf3ip1 A T 1: 91,427,357 (GRCm39) Q109L unknown Het
Ttc21b A T 2: 66,082,229 (GRCm39) probably benign Het
Ttn C A 2: 76,804,460 (GRCm39) A271S probably benign Het
Vegfb C A 19: 6,963,386 (GRCm39) probably null Het
Vmn1r15 T A 6: 57,235,888 (GRCm39) L252H possibly damaging Het
Wipi1 A T 11: 109,494,617 (GRCm39) V72D probably damaging Het
Zmym1 G A 4: 126,941,557 (GRCm39) Q944* probably null Het
Other mutations in Cep78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Cep78 APN 19 15,946,504 (GRCm39) missense probably benign
IGL00920:Cep78 APN 19 15,958,850 (GRCm39) missense probably benign 0.03
IGL01548:Cep78 APN 19 15,958,564 (GRCm39) splice site probably benign
IGL01662:Cep78 APN 19 15,938,359 (GRCm39) missense probably damaging 1.00
IGL01933:Cep78 APN 19 15,933,304 (GRCm39) missense probably benign
IGL02014:Cep78 APN 19 15,962,102 (GRCm39) missense probably damaging 1.00
IGL02198:Cep78 APN 19 15,933,733 (GRCm39) missense probably damaging 1.00
IGL02331:Cep78 APN 19 15,951,779 (GRCm39) missense probably benign 0.16
IGL02731:Cep78 APN 19 15,933,670 (GRCm39) missense probably benign 0.02
IGL03268:Cep78 APN 19 15,951,806 (GRCm39) nonsense probably null
IGL03338:Cep78 APN 19 15,936,987 (GRCm39) missense probably damaging 0.97
himalayas UTSW 19 15,946,492 (GRCm39) missense possibly damaging 0.66
R0426:Cep78 UTSW 19 15,948,334 (GRCm39) nonsense probably null
R0619:Cep78 UTSW 19 15,956,226 (GRCm39) missense probably damaging 0.99
R0659:Cep78 UTSW 19 15,933,554 (GRCm39) missense probably damaging 0.97
R1517:Cep78 UTSW 19 15,937,027 (GRCm39) missense probably damaging 1.00
R1758:Cep78 UTSW 19 15,936,900 (GRCm39) missense probably damaging 1.00
R1836:Cep78 UTSW 19 15,946,533 (GRCm39) missense probably damaging 1.00
R1865:Cep78 UTSW 19 15,933,368 (GRCm39) missense probably damaging 1.00
R1920:Cep78 UTSW 19 15,951,715 (GRCm39) splice site probably benign
R2483:Cep78 UTSW 19 15,938,344 (GRCm39) missense probably damaging 1.00
R2958:Cep78 UTSW 19 15,956,273 (GRCm39) missense probably damaging 1.00
R3814:Cep78 UTSW 19 15,959,166 (GRCm39) critical splice acceptor site probably null
R4133:Cep78 UTSW 19 15,946,519 (GRCm39) missense probably damaging 1.00
R4214:Cep78 UTSW 19 15,936,943 (GRCm39) missense probably benign
R5783:Cep78 UTSW 19 15,933,723 (GRCm39) missense probably benign 0.02
R5791:Cep78 UTSW 19 15,938,436 (GRCm39) missense probably benign 0.19
R5910:Cep78 UTSW 19 15,946,492 (GRCm39) missense possibly damaging 0.66
R5924:Cep78 UTSW 19 15,938,430 (GRCm39) missense probably damaging 1.00
R6148:Cep78 UTSW 19 15,959,150 (GRCm39) nonsense probably null
R6162:Cep78 UTSW 19 15,952,304 (GRCm39) missense probably benign 0.28
R6235:Cep78 UTSW 19 15,953,850 (GRCm39) splice site probably null
R6968:Cep78 UTSW 19 15,959,102 (GRCm39) missense probably benign 0.38
R7228:Cep78 UTSW 19 15,946,561 (GRCm39) missense probably benign 0.01
R7913:Cep78 UTSW 19 15,947,941 (GRCm39) missense probably benign
R7914:Cep78 UTSW 19 15,953,672 (GRCm39) missense probably benign 0.30
R7934:Cep78 UTSW 19 15,933,754 (GRCm39) missense probably damaging 0.96
R8059:Cep78 UTSW 19 15,958,876 (GRCm39) missense probably benign 0.02
R8146:Cep78 UTSW 19 15,933,727 (GRCm39) missense probably damaging 1.00
R8532:Cep78 UTSW 19 15,936,948 (GRCm39) missense possibly damaging 0.81
R9039:Cep78 UTSW 19 15,936,907 (GRCm39) missense probably benign 0.44
R9062:Cep78 UTSW 19 15,956,318 (GRCm39) missense probably benign 0.23
R9264:Cep78 UTSW 19 15,951,830 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16