Incidental Mutation 'IGL02453:Pacs1'
ID 293732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacs1
Ensembl Gene ENSMUSG00000024855
Gene Name phosphofurin acidic cluster sorting protein 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02453
Quality Score
Status
Chromosome 19
Chromosomal Location 5183714-5323138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5185033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 931 (W931R)
Ref Sequence ENSEMBL: ENSMUSP00000025786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025786]
AlphaFold Q8K212
Predicted Effect probably damaging
Transcript: ENSMUST00000025786
AA Change: W931R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: W931R

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 27 46 N/A INTRINSIC
low complexity region 51 97 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Pfam:Pacs-1 546 958 2e-193 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,075 (GRCm39) probably null Het
Actr1b A G 1: 36,741,588 (GRCm39) S51P probably damaging Het
Cdhr3 T C 12: 33,092,502 (GRCm39) Y703C probably damaging Het
Col9a1 A T 1: 24,218,438 (GRCm39) L54F unknown Het
Crim1 A G 17: 78,651,913 (GRCm39) K546E probably damaging Het
Dap3 A G 3: 88,835,634 (GRCm39) V240A probably benign Het
Dmtf1l G T X: 125,722,223 (GRCm39) S294* probably null Het
Dmtf1l T C X: 125,722,686 (GRCm39) I140V possibly damaging Het
Hadha T C 5: 30,349,304 (GRCm39) probably benign Het
Imp3 G T 9: 56,845,293 (GRCm39) R168L probably benign Het
Or1b1 A T 2: 36,995,209 (GRCm39) V151E probably benign Het
Otop2 T A 11: 115,215,455 (GRCm39) Y125* probably null Het
Rasgrf1 A T 9: 89,826,813 (GRCm39) M141L possibly damaging Het
Ryr3 C A 2: 112,512,073 (GRCm39) probably benign Het
Strbp A T 2: 37,476,520 (GRCm39) probably null Het
Sult2a5 T A 7: 13,396,432 (GRCm39) M173K possibly damaging Het
Tmem63a G A 1: 180,790,634 (GRCm39) V431M probably benign Het
Vmn2r114 T A 17: 23,530,108 (GRCm39) T100S probably benign Het
Wdr45 T C X: 7,593,520 (GRCm39) probably null Het
Other mutations in Pacs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Pacs1 APN 19 5,203,726 (GRCm39) missense probably damaging 0.98
IGL01335:Pacs1 APN 19 5,192,660 (GRCm39) missense probably damaging 1.00
IGL01717:Pacs1 APN 19 5,218,000 (GRCm39) missense probably damaging 1.00
IGL02887:Pacs1 APN 19 5,185,138 (GRCm39) splice site probably benign
Batavian UTSW 19 5,206,441 (GRCm39) missense possibly damaging 0.71
chicory UTSW 19 5,189,325 (GRCm39) missense probably benign 0.33
endive UTSW 19 5,322,611 (GRCm39) nonsense probably null
Escarole UTSW 19 5,206,384 (GRCm39) critical splice donor site probably null
frisee UTSW 19 5,186,819 (GRCm39) missense probably damaging 1.00
R0240:Pacs1 UTSW 19 5,206,402 (GRCm39) missense possibly damaging 0.69
R0240:Pacs1 UTSW 19 5,206,402 (GRCm39) missense possibly damaging 0.69
R0316:Pacs1 UTSW 19 5,185,149 (GRCm39) splice site silent
R0369:Pacs1 UTSW 19 5,191,726 (GRCm39) missense probably damaging 1.00
R0443:Pacs1 UTSW 19 5,322,611 (GRCm39) nonsense probably null
R0973:Pacs1 UTSW 19 5,193,857 (GRCm39) missense probably damaging 1.00
R0973:Pacs1 UTSW 19 5,193,857 (GRCm39) missense probably damaging 1.00
R0974:Pacs1 UTSW 19 5,193,857 (GRCm39) missense probably damaging 1.00
R1202:Pacs1 UTSW 19 5,185,265 (GRCm39) missense probably damaging 1.00
R1672:Pacs1 UTSW 19 5,202,337 (GRCm39) missense probably benign 0.00
R1689:Pacs1 UTSW 19 5,322,643 (GRCm39) unclassified probably benign
R1842:Pacs1 UTSW 19 5,205,912 (GRCm39) missense probably damaging 0.96
R1847:Pacs1 UTSW 19 5,203,742 (GRCm39) missense probably damaging 0.99
R3884:Pacs1 UTSW 19 5,205,787 (GRCm39) missense probably damaging 0.99
R4577:Pacs1 UTSW 19 5,193,861 (GRCm39) nonsense probably null
R4630:Pacs1 UTSW 19 5,206,384 (GRCm39) critical splice donor site probably null
R5029:Pacs1 UTSW 19 5,192,299 (GRCm39) missense probably benign 0.03
R5198:Pacs1 UTSW 19 5,189,325 (GRCm39) missense probably benign 0.33
R5223:Pacs1 UTSW 19 5,195,169 (GRCm39) missense probably benign 0.00
R5464:Pacs1 UTSW 19 5,197,235 (GRCm39) missense probably benign
R5695:Pacs1 UTSW 19 5,186,819 (GRCm39) missense probably damaging 1.00
R6128:Pacs1 UTSW 19 5,202,400 (GRCm39) splice site probably null
R6335:Pacs1 UTSW 19 5,210,005 (GRCm39) missense probably damaging 1.00
R6802:Pacs1 UTSW 19 5,202,812 (GRCm39) missense probably damaging 0.99
R6831:Pacs1 UTSW 19 5,210,823 (GRCm39) missense probably damaging 1.00
R7071:Pacs1 UTSW 19 5,206,402 (GRCm39) missense possibly damaging 0.69
R7200:Pacs1 UTSW 19 5,206,441 (GRCm39) missense possibly damaging 0.71
R7248:Pacs1 UTSW 19 5,189,003 (GRCm39) missense probably damaging 1.00
R7576:Pacs1 UTSW 19 5,195,148 (GRCm39) missense probably benign 0.09
R7682:Pacs1 UTSW 19 5,202,727 (GRCm39) missense probably damaging 0.99
R7715:Pacs1 UTSW 19 5,191,709 (GRCm39) missense probably benign 0.01
R7738:Pacs1 UTSW 19 5,202,378 (GRCm39) missense probably benign 0.11
R8339:Pacs1 UTSW 19 5,192,651 (GRCm39) missense probably damaging 1.00
R8930:Pacs1 UTSW 19 5,185,030 (GRCm39) missense probably damaging 1.00
R8932:Pacs1 UTSW 19 5,185,030 (GRCm39) missense probably damaging 1.00
R9043:Pacs1 UTSW 19 5,188,964 (GRCm39) missense probably benign 0.23
R9211:Pacs1 UTSW 19 5,189,057 (GRCm39) missense probably damaging 0.99
R9459:Pacs1 UTSW 19 5,195,098 (GRCm39) critical splice donor site probably null
R9584:Pacs1 UTSW 19 5,322,622 (GRCm39) missense probably benign
R9608:Pacs1 UTSW 19 5,193,862 (GRCm39) missense probably damaging 1.00
R9732:Pacs1 UTSW 19 5,184,997 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16