Incidental Mutation 'R1859:Pfdn1'
ID 204266
Institutional Source Beutler Lab
Gene Symbol Pfdn1
Ensembl Gene ENSMUSG00000024346
Gene Name prefoldin 1
Synonyms 2700086I23Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R1859 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 36536732-36587548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36584153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 60 (M60I)
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: M60I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025204
Gene: ENSMUSG00000024346
AA Change: M60I

DomainStartEndE-ValueType
Pfam:Prefoldin_2 14 119 1.4e-24 PFAM
Meta Mutation Damage Score 0.0871 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,637,268 (GRCm39) probably benign Het
Adcy10 A G 1: 165,349,530 (GRCm39) E467G probably damaging Het
Alkbh8 A G 9: 3,385,499 (GRCm39) D597G probably benign Het
Alpk1 T A 3: 127,474,749 (GRCm39) H418L possibly damaging Het
Ano5 G T 7: 51,196,581 (GRCm39) V138L probably damaging Het
Aspg T A 12: 112,087,606 (GRCm39) I319K possibly damaging Het
Atp9b T C 18: 80,793,135 (GRCm39) T970A possibly damaging Het
Brd10 A C 19: 29,732,323 (GRCm39) C230G possibly damaging Het
C4b T A 17: 34,954,527 (GRCm39) M881L probably benign Het
Cd209c A T 8: 3,994,953 (GRCm39) N70K probably benign Het
Cdca5 T C 19: 6,140,124 (GRCm39) V95A possibly damaging Het
Cds2 A G 2: 132,144,115 (GRCm39) Y297C probably damaging Het
Celsr2 C T 3: 108,303,946 (GRCm39) G2371S probably damaging Het
Cemip2 T C 19: 21,825,341 (GRCm39) V1213A possibly damaging Het
Chd5 T A 4: 152,464,980 (GRCm39) I1557N probably benign Het
Cntn5 C T 9: 9,972,839 (GRCm39) E266K probably damaging Het
Crtam G A 9: 40,884,900 (GRCm39) T363M possibly damaging Het
Dnah2 A G 11: 69,328,712 (GRCm39) S3298P probably damaging Het
Dok1 A T 6: 83,009,226 (GRCm39) Y209N probably damaging Het
Dpp10 T C 1: 123,281,333 (GRCm39) D561G possibly damaging Het
Drosha A G 15: 12,878,804 (GRCm39) K710R probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Ercc6 T C 14: 32,248,735 (GRCm39) S429P probably damaging Het
Fam135a A T 1: 24,069,306 (GRCm39) V521E probably damaging Het
Fbxl7 A T 15: 26,543,279 (GRCm39) L456Q probably damaging Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Foxc2 G T 8: 121,843,364 (GRCm39) R4L probably damaging Het
Glyctk C T 9: 106,034,731 (GRCm39) V112I probably benign Het
Guf1 G T 5: 69,725,803 (GRCm39) G481* probably null Het
Heatr1 T C 13: 12,418,040 (GRCm39) L324S probably damaging Het
Hectd1 A G 12: 51,853,350 (GRCm39) L57P probably damaging Het
Hmcn1 A T 1: 150,532,944 (GRCm39) C3080S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1 T A 19: 34,624,944 (GRCm39) F27I probably benign Het
Ift20 G T 11: 78,430,860 (GRCm39) E68* probably null Het
Itsn1 A G 16: 91,686,042 (GRCm39) probably benign Het
Ksr2 T A 5: 117,553,006 (GRCm39) L38Q probably damaging Het
Lama2 A T 10: 26,907,078 (GRCm39) M2361K possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k9 A T 12: 81,771,256 (GRCm39) S800R possibly damaging Het
Mef2a A G 7: 66,915,766 (GRCm39) S179P probably damaging Het
Micall1 A G 15: 79,007,145 (GRCm39) probably benign Het
Mpg A G 11: 32,181,957 (GRCm39) probably null Het
Mpp7 A T 18: 7,350,967 (GRCm39) *577K probably null Het
Msh4 G T 3: 153,611,517 (GRCm39) H35Q probably benign Het
Mst1 G A 9: 107,961,545 (GRCm39) V601I probably benign Het
Myh10 T A 11: 68,636,239 (GRCm39) N246K probably benign Het
Myom3 C A 4: 135,506,707 (GRCm39) N493K probably benign Het
Mypn T C 10: 62,981,969 (GRCm39) D537G probably benign Het
Ncan A T 8: 70,567,998 (GRCm39) M38K possibly damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Nos1 A T 5: 118,043,527 (GRCm39) N601Y possibly damaging Het
Nrxn2 G A 19: 6,538,825 (GRCm39) V794I probably benign Het
Or10q12 T A 19: 13,746,088 (GRCm39) Y127* probably null Het
Or13a17 T A 7: 140,271,571 (GRCm39) V251E possibly damaging Het
Or13c7b A T 4: 43,820,779 (GRCm39) I194N possibly damaging Het
Or2y17 T C 11: 49,232,211 (GRCm39) L284P probably damaging Het
Or8h9 T C 2: 86,789,425 (GRCm39) I126V probably damaging Het
Parp4 T C 14: 56,886,372 (GRCm39) V1817A unknown Het
Ppp1r3c T C 19: 36,711,011 (GRCm39) N253S probably damaging Het
Prdm5 A G 6: 65,808,263 (GRCm39) I42V probably benign Het
Prom2 T G 2: 127,383,017 (GRCm39) Q75P probably damaging Het
Ptpn23 T C 9: 110,217,938 (GRCm39) D669G possibly damaging Het
Rag1 T C 2: 101,474,407 (GRCm39) D245G probably benign Het
Rpl22l1 T A 3: 28,860,747 (GRCm39) probably null Het
Sars2 T C 7: 28,443,737 (GRCm39) V113A probably damaging Het
Sbno2 T A 10: 79,894,473 (GRCm39) K1067* probably null Het
Sec61g A G 11: 16,456,371 (GRCm39) probably null Het
Slc4a11 A T 2: 130,529,932 (GRCm39) M282K probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Sparc A T 11: 55,297,334 (GRCm39) probably null Het
Thra T A 11: 98,646,977 (GRCm39) C33S probably damaging Het
Trrap A T 5: 144,767,761 (GRCm39) T2293S probably benign Het
Ttn T A 2: 76,724,989 (GRCm39) probably benign Het
Vat1l T A 8: 114,998,041 (GRCm39) V195E probably damaging Het
Vmn1r60 T A 7: 5,547,549 (GRCm39) I184F possibly damaging Het
Wdfy4 A G 14: 32,825,940 (GRCm39) I1192T probably damaging Het
Zbtb10 T C 3: 9,345,446 (GRCm39) S737P possibly damaging Het
Zfp553 A G 7: 126,834,517 (GRCm39) E24G probably benign Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript 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
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
R8360:Pfdn1 UTSW 18 36,584,214 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACACCTGGGGTTTTATGCC -3'
(R):5'- GCTTTGTCAAGTTAGCATGATCTG -3'

Sequencing Primer
(F):5'- GAAAATAAACCATTCTGCCAT -3'
(R):5'- GTCAAGTTAGCATGATCTGTTTTAAC -3'
Posted On 2014-06-23