Incidental Mutation 'IGL02981:Poc5'
ID406565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poc5
Ensembl Gene ENSMUSG00000021671
Gene NamePOC5 centriolar protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02981
Quality Score
Status
Chromosome13
Chromosomal Location96388294-96417737 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 96401757 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099295] [ENSMUST00000099295]
Predicted Effect probably null
Transcript: ENSMUST00000099295
SMART Domains Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671

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 probably null
Transcript: ENSMUST00000099295
SMART Domains Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik T C 16: 92,320,869 N177S probably benign Het
Abhd12 A G 2: 150,833,124 S392P probably benign Het
Adam23 G A 1: 63,570,953 V705I probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Ank2 T G 3: 126,934,562 D794A possibly damaging Het
Aqr T C 2: 114,134,824 probably benign Het
Atp9b A G 18: 80,754,289 V857A possibly damaging Het
Banp T C 8: 121,978,564 Y58H possibly damaging Het
Cacna1e T A 1: 154,471,425 N999Y probably benign Het
Cd14 T C 18: 36,726,479 probably benign Het
Crmp1 T C 5: 37,286,426 I447T probably damaging Het
Dip2a A G 10: 76,276,421 V1090A possibly damaging Het
Ep400 T A 5: 110,691,610 probably benign Het
Ep400 T A 5: 110,756,103 H210L possibly damaging Het
Fbxw26 A G 9: 109,744,794 F97L probably benign Het
Fut8 C A 12: 77,475,038 P484T probably damaging Het
Golph3 A G 15: 12,349,464 E190G probably benign Het
Hectd1 A T 12: 51,768,887 D1472E possibly damaging Het
Hnrnpdl T C 5: 100,037,099 I298V possibly damaging Het
Jakmip2 C A 18: 43,562,530 probably null Het
Kcnj5 G A 9: 32,322,581 T146I probably damaging Het
Lyst T G 13: 13,634,911 F389V probably damaging Het
Myo1b A G 1: 51,778,373 S577P probably damaging Het
Myo3b T C 2: 70,108,625 V114A probably damaging Het
Olfr714 C A 7: 107,074,551 T241N probably damaging Het
Pappa2 C T 1: 158,851,144 G901R probably benign Het
Patz1 T C 11: 3,290,656 Y15H probably damaging Het
Pdp2 T C 8: 104,593,635 W39R probably benign Het
Pou3f1 A G 4: 124,658,443 D246G probably damaging Het
Pramel5 T A 4: 144,272,860 Y219F probably benign Het
Prrc2c C T 1: 162,705,179 probably benign Het
Ptpn13 A G 5: 103,528,804 K678E probably damaging Het
Rps2 T C 17: 24,721,724 F271L probably benign Het
Serpina3k C A 12: 104,340,991 Q161K probably benign Het
Serpinb6b A G 13: 32,971,606 T101A probably benign Het
Tprkb T A 6: 85,927,879 D112E probably benign Het
Tubal3 A G 13: 3,933,257 T346A probably benign Het
Vwde A G 6: 13,193,113 F409S possibly damaging Het
Zbtb6 G A 2: 37,429,164 Q251* probably null Het
Other mutations in Poc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Poc5 APN 13 96410746 missense probably damaging 1.00
IGL01377:Poc5 APN 13 96401631 missense probably benign 0.35
IGL03031:Poc5 APN 13 96401615 missense probably benign 0.00
R0348:Poc5 UTSW 13 96398866 missense probably null 1.00
R1533:Poc5 UTSW 13 96391644 missense probably damaging 0.96
R1881:Poc5 UTSW 13 96398731 missense probably benign 0.21
R2171:Poc5 UTSW 13 96410749 missense probably damaging 1.00
R2337:Poc5 UTSW 13 96410603 missense probably damaging 0.98
R3419:Poc5 UTSW 13 96404417 missense possibly damaging 0.88
R3736:Poc5 UTSW 13 96396816 missense probably damaging 1.00
R4554:Poc5 UTSW 13 96403021 missense probably benign 0.40
R5223:Poc5 UTSW 13 96402955 missense probably benign 0.20
R5436:Poc5 UTSW 13 96396813 missense probably damaging 1.00
R6089:Poc5 UTSW 13 96396671 missense probably damaging 1.00
R6700:Poc5 UTSW 13 96394495 missense probably benign 0.00
R7345:Poc5 UTSW 13 96396796 missense probably damaging 1.00
R7354:Poc5 UTSW 13 96394525 missense probably benign 0.02
R7363:Poc5 UTSW 13 96404417 missense possibly damaging 0.88
R7454:Poc5 UTSW 13 96400832 missense possibly damaging 0.93
R7773:Poc5 UTSW 13 96410635 missense probably damaging 1.00
R7786:Poc5 UTSW 13 96404519 missense possibly damaging 0.55
R7953:Poc5 UTSW 13 96402900 missense probably benign 0.27
X0019:Poc5 UTSW 13 96394548 frame shift probably null
X0024:Poc5 UTSW 13 96394548 frame shift probably null
X0034:Poc5 UTSW 13 96394548 frame shift probably null
X0035:Poc5 UTSW 13 96394548 frame shift probably null
X0036:Poc5 UTSW 13 96394548 frame shift probably null
X0037:Poc5 UTSW 13 96394548 frame shift probably null
X0038:Poc5 UTSW 13 96394548 frame shift probably null
X0039:Poc5 UTSW 13 96394548 frame shift probably null
X0040:Poc5 UTSW 13 96394548 frame shift probably null
X0052:Poc5 UTSW 13 96394548 frame shift probably null
X0053:Poc5 UTSW 13 96394548 frame shift probably null
X0054:Poc5 UTSW 13 96394548 frame shift probably null
X0058:Poc5 UTSW 13 96394548 frame shift probably null
X0060:Poc5 UTSW 13 96394548 frame shift probably null
X0061:Poc5 UTSW 13 96394548 frame shift probably null
X0062:Poc5 UTSW 13 96394548 frame shift probably null
X0063:Poc5 UTSW 13 96394548 frame shift probably null
Z1176:Poc5 UTSW 13 96401722 missense probably benign 0.25
Posted On2016-08-02