Incidental Mutation 'IGL01335:Pacs1'
ID 74588
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01335
Quality Score
Status
Chromosome 19
Chromosomal Location 5133688-5273119 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5142632 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 624 (V624E)
Ref Sequence ENSEMBL: ENSMUSP00000025786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025786]
AlphaFold Q8K212
Predicted Effect probably damaging
Transcript: ENSMUST00000025786
AA Change: V624E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: V624E

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A T 8: 45,973,605 probably benign Het
6820408C15Rik T A 2: 152,442,387 M300K possibly damaging Het
Adamts14 T A 10: 61,198,681 R1143W possibly damaging Het
Ankrd28 T C 14: 31,702,024 Y1083C probably damaging Het
Anxa8 T C 14: 34,089,590 M34T probably damaging Het
Aox1 G T 1: 58,082,153 E928* probably null Het
Atp8b5 T A 4: 43,302,628 F50L possibly damaging Het
Brpf1 A G 6: 113,319,337 S863G probably damaging Het
Cdc42bpb A G 12: 111,294,096 probably benign Het
Cdh6 C T 15: 13,051,309 A413T probably benign Het
Cfap97 A G 8: 46,170,455 Q294R probably damaging Het
Cit C T 5: 115,908,830 probably benign Het
Dmbt1 A G 7: 131,088,767 Y736C possibly damaging Het
Eno2 C T 6: 124,766,655 G107E probably damaging Het
Gja8 T C 3: 96,919,242 Q368R probably benign Het
Gm3633 T A 14: 42,640,638 probably benign Het
Gm4987 A T X: 46,455,878 noncoding transcript Het
Gna13 G A 11: 109,365,743 R164Q probably damaging Het
Grhl1 A T 12: 24,608,058 E351D probably damaging Het
Idua A G 5: 108,680,871 Q280R probably benign Het
Igsf5 T A 16: 96,373,153 probably benign Het
Mrpl52 T C 14: 54,427,199 Y39H probably damaging Het
Naa16 A T 14: 79,345,116 probably benign Het
Naa35 T A 13: 59,616,796 L338Q probably damaging Het
Nat8l A T 5: 33,998,447 Y149F probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Ncoa1 A T 12: 4,297,520 S351R probably benign Het
Olfr1046 A T 2: 86,217,572 L46Q probably damaging Het
Olfr1145 A T 2: 87,810,446 T209S probably damaging Het
Olfr1490 A T 19: 13,655,176 H249L probably damaging Het
Olfr765 T C 10: 129,046,511 K184R probably benign Het
Pde6b G A 5: 108,423,513 R444H probably benign Het
Pigk A T 3: 152,742,536 T226S probably benign Het
Prkdc T C 16: 15,816,896 probably null Het
Ptbp1 G A 10: 79,862,874 probably null Het
Pyroxd1 T C 6: 142,361,758 V418A probably damaging Het
Rhot1 A T 11: 80,250,229 D421V probably damaging Het
Rimkla T C 4: 119,477,959 T76A possibly damaging Het
Rtn1 A G 12: 72,308,350 V274A probably benign Het
Tatdn2 T A 6: 113,704,056 M289K probably benign Het
Trak1 A G 9: 121,454,316 T476A possibly damaging Het
Ube2i C A 17: 25,269,436 Q11H probably damaging Het
Ugt2a3 A T 5: 87,336,785 C127S probably damaging Het
Uimc1 T A 13: 55,034,911 Q619L probably benign Het
Upk3a T A 15: 85,019,585 Y162N probably damaging Het
Usp33 T C 3: 152,392,217 S849P probably damaging Het
Vmn2r120 G A 17: 57,525,732 T149I possibly damaging Het
Vmn2r15 G A 5: 109,286,736 P701S possibly damaging Het
Vmn2r28 T C 7: 5,481,088 I704M possibly damaging Het
Wdhd1 T C 14: 47,250,782 E756G possibly damaging Het
Xlr3c C A X: 73,260,033 V102F probably benign Het
Zfp384 T G 6: 125,025,053 D220E probably benign Het
Zfp521 A T 18: 13,844,719 V879E probably benign Het
Other mutations in Pacs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Pacs1 APN 19 5153698 missense probably damaging 0.98
IGL01717:Pacs1 APN 19 5167972 missense probably damaging 1.00
IGL02453:Pacs1 APN 19 5135005 missense probably damaging 1.00
IGL02887:Pacs1 APN 19 5135110 splice site probably benign
Batavian UTSW 19 5156413 missense possibly damaging 0.71
chicory UTSW 19 5139297 missense probably benign 0.33
endive UTSW 19 5272583 nonsense probably null
Escarole UTSW 19 5156356 critical splice donor site probably null
frisee UTSW 19 5136791 missense probably damaging 1.00
R0240:Pacs1 UTSW 19 5156374 missense possibly damaging 0.69
R0240:Pacs1 UTSW 19 5156374 missense possibly damaging 0.69
R0316:Pacs1 UTSW 19 5135121 splice site silent
R0369:Pacs1 UTSW 19 5141698 missense probably damaging 1.00
R0443:Pacs1 UTSW 19 5272583 nonsense probably null
R0973:Pacs1 UTSW 19 5143829 missense probably damaging 1.00
R0973:Pacs1 UTSW 19 5143829 missense probably damaging 1.00
R0974:Pacs1 UTSW 19 5143829 missense probably damaging 1.00
R1202:Pacs1 UTSW 19 5135237 missense probably damaging 1.00
R1672:Pacs1 UTSW 19 5152309 missense probably benign 0.00
R1689:Pacs1 UTSW 19 5272615 unclassified probably benign
R1842:Pacs1 UTSW 19 5155884 missense probably damaging 0.96
R1847:Pacs1 UTSW 19 5153714 missense probably damaging 0.99
R3884:Pacs1 UTSW 19 5155759 missense probably damaging 0.99
R4577:Pacs1 UTSW 19 5143833 nonsense probably null
R4630:Pacs1 UTSW 19 5156356 critical splice donor site probably null
R5029:Pacs1 UTSW 19 5142271 missense probably benign 0.03
R5198:Pacs1 UTSW 19 5139297 missense probably benign 0.33
R5223:Pacs1 UTSW 19 5145141 missense probably benign 0.00
R5464:Pacs1 UTSW 19 5147207 missense probably benign
R5695:Pacs1 UTSW 19 5136791 missense probably damaging 1.00
R6128:Pacs1 UTSW 19 5152372 splice site probably null
R6335:Pacs1 UTSW 19 5159977 missense probably damaging 1.00
R6802:Pacs1 UTSW 19 5152784 missense probably damaging 0.99
R6831:Pacs1 UTSW 19 5160795 missense probably damaging 1.00
R7071:Pacs1 UTSW 19 5156374 missense possibly damaging 0.69
R7200:Pacs1 UTSW 19 5156413 missense possibly damaging 0.71
R7248:Pacs1 UTSW 19 5138975 missense probably damaging 1.00
R7576:Pacs1 UTSW 19 5145120 missense probably benign 0.09
R7682:Pacs1 UTSW 19 5152699 missense probably damaging 0.99
R7715:Pacs1 UTSW 19 5141681 missense probably benign 0.01
R7738:Pacs1 UTSW 19 5152350 missense probably benign 0.11
R8339:Pacs1 UTSW 19 5142623 missense probably damaging 1.00
R8930:Pacs1 UTSW 19 5135002 missense probably damaging 1.00
R8932:Pacs1 UTSW 19 5135002 missense probably damaging 1.00
R9043:Pacs1 UTSW 19 5138936 missense probably benign 0.23
R9211:Pacs1 UTSW 19 5139029 missense probably damaging 0.99
Posted On 2013-10-07