Incidental Mutation 'R5082:Pfdn1'
Institutional Source Beutler Lab
Gene Symbol Pfdn1
Ensembl Gene ENSMUSG00000024346
Gene Nameprefoldin 1
MMRRC Submission 042671-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.918) question?
Stock #R5082 (G1)
Quality Score225
Status Not validated
Chromosomal Location36403679-36454495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 36404413 bp
Amino Acid Change Asparagine to Lysine at position 111 (N111K)
Ref Sequence ENSEMBL: ENSMUSP00000025204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025204] [ENSMUST00000050584] [ENSMUST00000144158]
Predicted Effect probably damaging
Transcript: ENSMUST00000025204
AA Change: N111K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025204
Gene: ENSMUSG00000024346
AA Change: N111K

Pfam:Prefoldin_2 14 119 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050584
SMART Domains Protein: ENSMUSP00000051708
Gene: ENSMUSG00000046727

low complexity region 6 66 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144158
SMART Domains Protein: ENSMUSP00000114199
Gene: ENSMUSG00000046727

low complexity region 6 66 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele display reduced birth size, slow weight gain, loss of neuron tracts in the brain, uncoordinated movement, impaired B and T cell development and function, mucus clearance defects, hydrocephaly, and premature deathpreceded by physical wasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,131,868 M1015L probably benign Het
Aftph T C 11: 20,727,100 S170G probably damaging Het
Aox4 C T 1: 58,231,483 P274S possibly damaging Het
Ash1l G A 3: 88,966,234 R108Q probably damaging Het
Aspm T A 1: 139,478,676 L1767* probably null Het
Baz2b T A 2: 59,901,491 K2068* probably null Het
Bcl9 A T 3: 97,209,902 V492D probably damaging Het
Bicc1 G T 10: 70,940,522 H782Q probably benign Het
Cabin1 T A 10: 75,738,330 I640F probably damaging Het
Ccng1 A G 11: 40,752,188 V144A possibly damaging Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Ddx1 G T 12: 13,220,435 C668* probably null Het
Dhx58 G A 11: 100,696,976 S585L probably benign Het
Dnttip2 A T 3: 122,275,941 K268N probably damaging Het
Ecd C T 14: 20,324,368 probably null Het
Entpd1 A G 19: 40,725,029 probably null Het
Erlin2 T C 8: 27,033,407 V224A probably damaging Het
Exoc3l4 A G 12: 111,427,990 S515G probably benign Het
Fcho1 T C 8: 71,717,185 D98G possibly damaging Het
Fhod1 T A 8: 105,330,513 D943V probably damaging Het
Gm10322 A T 10: 59,616,268 E69V possibly damaging Het
Gm14295 T A 2: 176,807,417 L19* probably null Het
Gm7347 T A 5: 26,057,374 R50* probably null Het
Hesx1 T C 14: 27,000,774 C19R probably benign Het
Hgh1 T A 15: 76,369,552 F199L probably benign Het
Irak2 T C 6: 113,672,844 F147L probably damaging Het
Kif22 G A 7: 127,033,377 R254C possibly damaging Het
Klhl9 A T 4: 88,721,385 S206R probably damaging Het
Maip1 T C 1: 57,411,851 probably null Het
Mcm9 T A 10: 53,538,060 E308V possibly damaging Het
Mfsd13b A T 7: 120,998,978 N369I possibly damaging Het
Mga T A 2: 119,903,344 H224Q probably damaging Het
Mtss1 A T 15: 58,971,019 W115R probably damaging Het
Myo3b T C 2: 70,258,030 V851A probably benign Het
Nectin2 A T 7: 19,738,124 D113E probably damaging Het
Notch2 G A 3: 98,100,374 C480Y probably damaging Het
Olfr711 G A 7: 106,971,664 R227C probably benign Het
Olfr922 T C 9: 38,816,145 I214T possibly damaging Het
Pfkl A T 10: 77,996,408 V283E probably damaging Het
Plbd2 G T 5: 120,491,184 S305* probably null Het
Prom1 T C 5: 44,000,832 probably null Het
Ptbp2 T A 3: 119,752,964 M90L probably benign Het
Rai1 G A 11: 60,185,919 E270K possibly damaging Het
Rbbp6 G A 7: 123,000,702 probably benign Het
Reln T C 5: 21,896,077 M3399V probably benign Het
Ros1 T A 10: 52,163,941 Y318F possibly damaging Het
Sh2d2a A G 3: 87,851,784 D231G probably benign Het
Smn1 T C 13: 100,137,382 probably benign Het
Snrnp200 C T 2: 127,226,370 Q877* probably null Het
Taf2 G T 15: 55,060,045 H279N probably benign Het
Tnfaip3 T C 10: 19,005,284 Y345C probably damaging Het
Vmn2r68 C T 7: 85,233,868 M225I probably benign Het
Vps13a A T 19: 16,744,893 W352R probably damaging Het
Other mutations in Pfdn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1857:Pfdn1 UTSW 18 36451100 missense probably benign 0.00
R1858:Pfdn1 UTSW 18 36451100 missense probably benign 0.00
R1859:Pfdn1 UTSW 18 36451100 missense probably benign 0.00
R3809:Pfdn1 UTSW 18 36451092 missense probably damaging 1.00
R4690:Pfdn1 UTSW 18 36451080 missense possibly damaging 0.56
R7107:Pfdn1 UTSW 18 36451466 splice site probably null
R7747:Pfdn1 UTSW 18 36432305 critical splice donor site probably null
R8360:Pfdn1 UTSW 18 36451161 missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-06-06