Incidental Mutation 'IGL01377:Poc5'
ID 78770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poc5
Ensembl Gene ENSMUSG00000021671
Gene Name POC5 centriolar protein
Synonyms 1200014M14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01377
Quality Score
Status
Chromosome 13
Chromosomal Location 96524767-96553719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96538139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 268 (V268A)
Ref Sequence ENSEMBL: ENSMUSP00000096898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099295]
AlphaFold Q9DBS8
Predicted Effect probably benign
Transcript: ENSMUST00000099295
AA Change: V268A

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671
AA Change: V268A

DomainStartEndE-ValueType
coiled coil region 175 206 N/A INTRINSIC
coiled coil region 300 341 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
low complexity region 418 433 N/A INTRINSIC
low complexity region 436 456 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223478
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,460,108 (GRCm39) V196D probably damaging Het
Ago1 C T 4: 126,353,610 (GRCm39) V279M probably damaging Het
Bltp1 T C 3: 37,027,601 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,966 (GRCm39) D675G probably damaging Het
Cdc42bpa T A 1: 179,892,708 (GRCm39) Y291N probably damaging Het
Cdca5 T C 19: 6,140,312 (GRCm39) S158P probably damaging Het
Cdh8 A G 8: 99,760,021 (GRCm39) I576T probably damaging Het
Cpsf2 T A 12: 101,953,640 (GRCm39) probably null Het
Cyc1 C T 15: 76,229,162 (GRCm39) R143* probably null Het
Dcaf6 A T 1: 165,216,293 (GRCm39) S437T probably benign Het
Eif5b A G 1: 38,075,179 (GRCm39) D552G probably benign Het
Epor T C 9: 21,870,593 (GRCm39) D429G probably damaging Het
Farp2 A G 1: 93,531,181 (GRCm39) I560V possibly damaging Het
Fbxw21 T A 9: 108,975,713 (GRCm39) R228* probably null Het
Fyb1 T C 15: 6,609,801 (GRCm39) S125P probably benign Het
Gfm1 A T 3: 67,382,086 (GRCm39) Y720F probably damaging Het
Hspbap1 T A 16: 35,645,681 (GRCm39) D455E possibly damaging Het
Katnal2 T C 18: 77,090,153 (GRCm39) R285G probably damaging Het
Kif12 G A 4: 63,088,962 (GRCm39) T153I probably damaging Het
Klhl31 T C 9: 77,558,013 (GRCm39) F243S probably benign Het
Large2 A G 2: 92,199,676 (GRCm39) Y208H probably damaging Het
Lrp1b A G 2: 40,491,550 (GRCm39) V239A probably damaging Het
Mblac2 G A 13: 81,898,266 (GRCm39) R214H probably damaging Het
Mlf2 A G 6: 124,911,654 (GRCm39) N168D probably damaging Het
Mtmr6 T A 14: 60,519,483 (GRCm39) Y134* probably null Het
Mtus1 T C 8: 41,536,172 (GRCm39) K515E possibly damaging Het
Nek1 A G 8: 61,542,490 (GRCm39) T718A probably benign Het
Nfx1 A G 4: 40,977,241 (GRCm39) N305S probably benign Het
Nrxn3 T A 12: 89,499,782 (GRCm39) probably null Het
Nsf T C 11: 103,763,473 (GRCm39) D377G probably damaging Het
Pde4b A G 4: 102,344,599 (GRCm39) E102G probably damaging Het
Pdlim4 G T 11: 53,947,130 (GRCm39) S56R probably benign Het
Sec23b A C 2: 144,401,157 (GRCm39) E6A probably damaging Het
Sgsm1 A T 5: 113,424,048 (GRCm39) probably benign Het
Slc16a12 T A 19: 34,650,084 (GRCm39) N317I possibly damaging Het
Slc1a7 A T 4: 107,850,162 (GRCm39) D91V probably damaging Het
Slc30a9 T G 5: 67,473,173 (GRCm39) S86A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,636 (GRCm39) S16P probably benign Het
Tmtc1 A C 6: 148,147,285 (GRCm39) V804G possibly damaging Het
Ttc7b A G 12: 100,321,371 (GRCm39) F587L probably benign Het
Vmn2r86 A T 10: 130,288,855 (GRCm39) D215E probably damaging Het
Other mutations in Poc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Poc5 APN 13 96,547,254 (GRCm39) missense probably damaging 1.00
IGL02981:Poc5 APN 13 96,538,265 (GRCm39) critical splice donor site probably null
IGL03031:Poc5 APN 13 96,538,123 (GRCm39) missense probably benign 0.00
R0348:Poc5 UTSW 13 96,535,374 (GRCm39) missense probably null 1.00
R1533:Poc5 UTSW 13 96,528,152 (GRCm39) missense probably damaging 0.96
R1881:Poc5 UTSW 13 96,535,239 (GRCm39) missense probably benign 0.21
R2171:Poc5 UTSW 13 96,547,257 (GRCm39) missense probably damaging 1.00
R2337:Poc5 UTSW 13 96,547,111 (GRCm39) missense probably damaging 0.98
R3419:Poc5 UTSW 13 96,540,925 (GRCm39) missense possibly damaging 0.88
R3736:Poc5 UTSW 13 96,533,324 (GRCm39) missense probably damaging 1.00
R4554:Poc5 UTSW 13 96,539,529 (GRCm39) missense probably benign 0.40
R5223:Poc5 UTSW 13 96,539,463 (GRCm39) missense probably benign 0.20
R5436:Poc5 UTSW 13 96,533,321 (GRCm39) missense probably damaging 1.00
R6089:Poc5 UTSW 13 96,533,179 (GRCm39) missense probably damaging 1.00
R6700:Poc5 UTSW 13 96,531,003 (GRCm39) missense probably benign 0.00
R7345:Poc5 UTSW 13 96,533,304 (GRCm39) missense probably damaging 1.00
R7354:Poc5 UTSW 13 96,531,033 (GRCm39) missense probably benign 0.02
R7363:Poc5 UTSW 13 96,540,925 (GRCm39) missense possibly damaging 0.88
R7454:Poc5 UTSW 13 96,537,340 (GRCm39) missense possibly damaging 0.93
R7773:Poc5 UTSW 13 96,547,143 (GRCm39) missense probably damaging 1.00
R7786:Poc5 UTSW 13 96,541,027 (GRCm39) missense possibly damaging 0.55
R7953:Poc5 UTSW 13 96,539,408 (GRCm39) missense probably benign 0.27
R8850:Poc5 UTSW 13 96,535,228 (GRCm39) missense possibly damaging 0.94
R9423:Poc5 UTSW 13 96,547,114 (GRCm39) missense probably damaging 1.00
R9723:Poc5 UTSW 13 96,551,026 (GRCm39) missense probably benign 0.00
X0019:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0024:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0034:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0035:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0036:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0037:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0038:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0039:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0040:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0052:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0053:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0054:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0058:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0060:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0061:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0062:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
X0063:Poc5 UTSW 13 96,531,056 (GRCm39) frame shift probably null
Z1176:Poc5 UTSW 13 96,538,230 (GRCm39) missense probably benign 0.25
Posted On 2013-11-05