Incidental Mutation 'IGL02605:Pfdn6'
ID300243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfdn6
Ensembl Gene ENSMUSG00000024309
Gene Nameprefoldin subunit 6
SynonymsH2-Ke2, Ke-2, H-2Ke2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL02605
Quality Score
Status
Chromosome17
Chromosomal Location33938821-33940343 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33939103 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 90 (Y90C)
Ref Sequence ENSEMBL: ENSMUSP00000137072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025163] [ENSMUST00000025170] [ENSMUST00000047503] [ENSMUST00000173363] [ENSMUST00000174048] [ENSMUST00000174426] [ENSMUST00000179418]
Predicted Effect probably benign
Transcript: ENSMUST00000025163
AA Change: Y90C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025163
Gene: ENSMUSG00000024309
AA Change: Y90C

DomainStartEndE-ValueType
Pfam:Prefoldin_2 10 115 9.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025170
SMART Domains Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

DomainStartEndE-ValueType
coiled coil region 126 155 N/A INTRINSIC
low complexity region 204 217 N/A INTRINSIC
WD40 225 262 1.02e2 SMART
WD40 267 302 3.3e1 SMART
Blast:WD40 305 344 8e-19 BLAST
WD40 347 386 9.52e-6 SMART
Blast:WD40 392 426 3e-14 BLAST
BING4CT 439 517 8.85e-53 SMART
low complexity region 542 556 N/A INTRINSIC
low complexity region 586 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047503
SMART Domains Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 44 63 N/A INTRINSIC
RasGEFN 87 212 9.54e-30 SMART
RasGEF 239 514 7.15e-106 SMART
low complexity region 578 592 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 633 648 N/A INTRINSIC
RA 649 736 2.05e-19 SMART
low complexity region 737 762 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172546
Predicted Effect probably benign
Transcript: ENSMUST00000173284
SMART Domains Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354

DomainStartEndE-ValueType
Blast:RasGEF 2 67 1e-35 BLAST
PDB:4JGW|B 2 67 1e-35 PDB
SCOP:d1bkds_ 2 94 3e-16 SMART
low complexity region 131 145 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 186 201 N/A INTRINSIC
RA 202 289 2.05e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173363
AA Change: Y64C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138662
Gene: ENSMUSG00000024309
AA Change: Y64C

DomainStartEndE-ValueType
Pfam:Prefoldin_2 1 89 1.1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173857
Predicted Effect probably benign
Transcript: ENSMUST00000174048
AA Change: Y90C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309
AA Change: Y90C

DomainStartEndE-ValueType
Pfam:Prefoldin_2 10 115 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174426
AA Change: Y64C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134069
Gene: ENSMUSG00000024309
AA Change: Y64C

DomainStartEndE-ValueType
Pfam:Prefoldin_2 1 89 1.1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174442
Predicted Effect probably benign
Transcript: ENSMUST00000179418
AA Change: Y90C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309
AA Change: Y90C

DomainStartEndE-ValueType
Pfam:Prefoldin_2 10 115 2e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,717,257 Y992F probably benign Het
Adgrg6 T A 10: 14,467,232 N324Y probably damaging Het
Ampd3 T C 7: 110,795,758 F305L probably benign Het
Ankrd35 A G 3: 96,681,072 probably null Het
Api5 A G 2: 94,429,719 I64T possibly damaging Het
Arhgap21 A G 2: 20,855,588 I1165T probably damaging Het
Bdp1 T C 13: 100,078,115 probably null Het
Capn3 T A 2: 120,496,037 I570N probably damaging Het
Catsperg2 T C 7: 29,719,565 H232R possibly damaging Het
Clcn7 T C 17: 25,146,818 L156P possibly damaging Het
Cpa3 C A 3: 20,222,212 V286F probably benign Het
Csrnp3 G A 2: 66,022,809 C527Y probably damaging Het
Dock5 A T 14: 67,828,438 V372E probably benign Het
Elmo1 T C 13: 20,605,202 L696P probably damaging Het
Fam91a1 T C 15: 58,431,196 probably benign Het
Gm12695 T A 4: 96,762,751 D155V probably null Het
Hspa4l A G 3: 40,781,623 I559V probably benign Het
Kdm1a G T 4: 136,551,037 probably benign Het
Lrrc8d A T 5: 105,826,817 noncoding transcript Het
Minpp1 A T 19: 32,498,415 Y316F possibly damaging Het
Neto2 T C 8: 85,663,435 probably benign Het
Nrxn2 T A 19: 6,450,580 D277E probably benign Het
Ola1 A G 2: 73,142,300 probably benign Het
Olfr1298 A G 2: 111,645,505 V164A probably benign Het
Olfr550 T C 7: 102,579,395 I300T probably damaging Het
Olfr893 T A 9: 38,209,236 M61K probably damaging Het
Pam A G 1: 97,840,339 V722A possibly damaging Het
Pkhd1 T A 1: 20,550,902 H844L possibly damaging Het
Plk5 G A 10: 80,363,062 V422M probably damaging Het
Psmc1 G T 12: 100,119,127 R249L probably damaging Het
Ptpro C T 6: 137,380,318 P269L probably benign Het
Ralgapa1 G T 12: 55,712,665 H1480Q possibly damaging Het
Rars G A 11: 35,824,526 probably benign Het
Rbm48 G A 5: 3,590,600 R260C possibly damaging Het
Smarcc1 C T 9: 110,222,000 H963Y possibly damaging Het
Spef2 T C 15: 9,725,152 E230G probably damaging Het
Spg11 A G 2: 122,092,260 S903P probably benign Het
Tas2r122 T C 6: 132,711,609 Y107C probably damaging Het
Tpm3 C A 3: 90,088,446 N204K probably benign Het
Wdr36 T C 18: 32,851,991 I450T possibly damaging Het
Other mutations in Pfdn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0017:Pfdn6 UTSW 17 33939564 missense probably damaging 1.00
R0017:Pfdn6 UTSW 17 33939564 missense probably damaging 1.00
R1712:Pfdn6 UTSW 17 33939554 missense probably damaging 1.00
R1978:Pfdn6 UTSW 17 33939077 missense probably benign 0.01
R4655:Pfdn6 UTSW 17 33940040 nonsense probably null
R6000:Pfdn6 UTSW 17 33939615 missense probably damaging 1.00
R8040:Pfdn6 UTSW 17 33939977 intron probably benign
Posted On2015-04-16