Incidental Mutation 'R8360:Pfdn1'
ID 652166
Institutional Source Beutler Lab
Gene Symbol Pfdn1
Ensembl Gene ENSMUSG00000024346
Gene Name prefoldin 1
Synonyms 2700086I23Rik
MMRRC Submission 067734-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R8360 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 36536732-36587548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36584214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 40 (T40M)
Ref Sequence ENSEMBL: ENSMUSP00000025204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025204]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025204
AA Change: T40M

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025204
Gene: ENSMUSG00000024346
AA Change: T40M

DomainStartEndE-ValueType
Pfam:Prefoldin_2 14 119 1.4e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 96% (43/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b C T 19: 21,655,888 (GRCm39) Q57* probably null Het
Acad8 C T 9: 26,890,352 (GRCm39) A288T possibly damaging Het
Adamtsl3 G A 7: 82,197,187 (GRCm39) C711Y probably damaging Het
Ahcyl2 C A 6: 29,768,869 (GRCm39) D111E probably benign Het
Asxl3 T C 18: 22,649,174 (GRCm39) F388L probably benign Het
Bcr T A 10: 74,981,271 (GRCm39) S697T probably damaging Het
Catspere2 G A 1: 177,842,724 (GRCm39) V50M possibly damaging Het
Dgka C A 10: 128,563,997 (GRCm39) V451F probably damaging Het
Dnajc2 A T 5: 21,962,705 (GRCm39) C617S unknown Het
Erich3 C A 3: 154,469,991 (GRCm39) T1481K unknown Het
Golm2 A T 2: 121,697,632 (GRCm39) probably benign Het
Hdac2 T A 10: 36,874,059 (GRCm39) D396E probably benign Het
Hmgcs2 A T 3: 98,204,724 (GRCm39) D294V possibly damaging Het
Hnf1a A G 5: 115,091,391 (GRCm39) V434A possibly damaging Het
Il4ra T C 7: 125,169,138 (GRCm39) L130P probably damaging Het
Inpp5j T C 11: 3,449,767 (GRCm39) K672E probably damaging Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Kif26b T C 1: 178,743,938 (GRCm39) S1345P probably benign Het
Lrrc28 A T 7: 67,290,909 (GRCm39) D37E probably benign Het
Mlx G T 11: 100,978,140 (GRCm39) probably benign Het
Muc16 T C 9: 18,436,554 (GRCm39) H7878R probably benign Het
Mybpc1 C A 10: 88,409,359 (GRCm39) E32* probably null Het
Nebl C T 2: 17,465,298 (GRCm39) V18M probably benign Het
Nhsl3 C T 4: 129,117,995 (GRCm39) R268Q possibly damaging Het
Nlrp3 T C 11: 59,440,229 (GRCm39) V602A probably benign Het
Npepps G A 11: 97,120,665 (GRCm39) P532S probably benign Het
Or7g12 T A 9: 18,900,139 (GRCm39) M285K probably benign Het
Or8g19 C T 9: 39,055,761 (GRCm39) R122* probably null Het
Or8k53 T C 2: 86,177,668 (GRCm39) I147M possibly damaging Het
Pkd2 G T 5: 104,607,653 (GRCm39) E51* probably null Het
Prss40 T A 1: 34,599,876 (GRCm39) H37L probably benign Het
Rab11fip1 A T 8: 27,642,374 (GRCm39) C808* probably null Het
Rab3gap2 A T 1: 184,999,270 (GRCm39) probably benign Het
Sall3 C T 18: 81,017,232 (GRCm39) R232H probably benign Het
Sbk3 A G 7: 4,970,707 (GRCm39) F221L probably damaging Het
Sema7a T G 9: 57,862,974 (GRCm39) probably benign Het
Serpina3b C A 12: 104,104,962 (GRCm39) N379K probably benign Het
Ssbp4 A G 8: 71,052,039 (GRCm39) L208P probably benign Het
Stxbp5 C T 10: 9,688,003 (GRCm39) probably null Het
Tecrl A G 5: 83,448,764 (GRCm39) Y160H probably damaging Het
Tnc T C 4: 63,885,511 (GRCm39) I1773V probably benign Het
Ush2a A G 1: 188,198,468 (GRCm39) T1511A probably benign Het
Utp15 T C 13: 98,391,499 (GRCm39) N246S probably damaging Het
Vmn1r49 C T 6: 90,049,991 (GRCm39) A4T probably benign Het
Vmn2r57 A T 7: 41,049,640 (GRCm39) I703N probably damaging Het
Wdr93 A G 7: 79,398,974 (GRCm39) D36G probably damaging Het
Zfp334 A G 2: 165,225,278 (GRCm39) I8T probably benign Het
Other mutations in Pfdn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1857:Pfdn1 UTSW 18 36,584,153 (GRCm39) missense probably benign 0.00
R1858:Pfdn1 UTSW 18 36,584,153 (GRCm39) missense probably benign 0.00
R1859:Pfdn1 UTSW 18 36,584,153 (GRCm39) missense probably benign 0.00
R3809:Pfdn1 UTSW 18 36,584,145 (GRCm39) missense probably damaging 1.00
R4690:Pfdn1 UTSW 18 36,584,133 (GRCm39) missense possibly damaging 0.56
R5082:Pfdn1 UTSW 18 36,537,466 (GRCm39) missense probably damaging 1.00
R7107:Pfdn1 UTSW 18 36,584,519 (GRCm39) splice site probably null
R7747:Pfdn1 UTSW 18 36,565,358 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACACCTGGGGTTTTATGCC -3'
(R):5'- GCTTTGTCAAGTTAGCATGATCTG -3'

Sequencing Primer
(F):5'- GTGCGCTGATTTACTCAC -3'
(R):5'- GTCAAGTTAGCATGATCTGTTTTAAC -3'
Posted On 2020-10-20