Incidental Mutation 'R4431:Pomp'
ID 328610
Institutional Source Beutler Lab
Gene Symbol Pomp
Ensembl Gene ENSMUSG00000029649
Gene Name proteasome maturation protein
Synonyms 2510048O06Rik, Ump1
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.747) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 147797438-147812594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 147812289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 125 (E125G)
Ref Sequence ENSEMBL: ENSMUSP00000031654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031654] [ENSMUST00000031655] [ENSMUST00000118527] [ENSMUST00000201120] [ENSMUST00000201376]
AlphaFold Q9CQT5
Predicted Effect probably damaging
Transcript: ENSMUST00000031654
AA Change: E125G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031654
Gene: ENSMUSG00000029649
AA Change: E125G

DomainStartEndE-ValueType
Pfam:UMP1 23 138 6.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031655
SMART Domains Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650

DomainStartEndE-ValueType
Pfam:MFS_1 8 400 4.3e-15 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118527
SMART Domains Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650

DomainStartEndE-ValueType
Pfam:MFS_1 8 400 5.5e-15 PFAM
transmembrane domain 411 433 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152064
Predicted Effect probably benign
Transcript: ENSMUST00000201120
SMART Domains Protein: ENSMUSP00000144196
Gene: ENSMUSG00000029649

DomainStartEndE-ValueType
Pfam:UMP1 23 100 3.8e-18 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000201376
AA Change: N94D
SMART Domains Protein: ENSMUSP00000144685
Gene: ENSMUSG00000029649
AA Change: N94D

DomainStartEndE-ValueType
Pfam:UMP1 23 92 3.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202222
Meta Mutation Damage Score 0.9027 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Pomp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Pomp APN 5 147,797,491 (GRCm39) utr 5 prime probably benign
PIT4810001:Pomp UTSW 5 147,806,229 (GRCm39) missense probably benign 0.00
R0109:Pomp UTSW 5 147,812,323 (GRCm39) missense probably benign 0.04
R6897:Pomp UTSW 5 147,812,313 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- GGGTCCCTTCAAGCAAGATAC -3'
(R):5'- AAATGCTTCCACATGGCCC -3'

Sequencing Primer
(F):5'- GCAAGATACAAACTTGTTTTACCGCC -3'
(R):5'- TCCACATGGCCCAGTGATC -3'
Posted On 2015-07-21