Incidental Mutation 'R8031:Psmd4'
ID 617939
Institutional Source Beutler Lab
Gene Symbol Psmd4
Ensembl Gene ENSMUSG00000005625
Gene Name proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
Synonyms Af1, multiubiquitin-chain-binding protein, Mcb1, angiocidin
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R8031 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95032694-95042614 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95035892 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 67 (D67G)
Ref Sequence ENSEMBL: ENSMUSP00000071589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071664] [ENSMUST00000107237] [ENSMUST00000117355] [ENSMUST00000140348]
AlphaFold O35226
Predicted Effect probably damaging
Transcript: ENSMUST00000071664
AA Change: D67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071589
Gene: ENSMUSG00000005625
AA Change: D67G

DomainStartEndE-ValueType
VWA 2 188 7.38e-12 SMART
low complexity region 189 201 N/A INTRINSIC
UIM 211 230 2.04e0 SMART
UIM 285 304 1.49e-2 SMART
low complexity region 307 320 N/A INTRINSIC
low complexity region 367 379 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107237
AA Change: D67G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102857
Gene: ENSMUSG00000005625
AA Change: D67G

DomainStartEndE-ValueType
VWA 2 188 7.38e-12 SMART
low complexity region 189 201 N/A INTRINSIC
UIM 211 230 2.04e0 SMART
UIM 282 301 1.49e-2 SMART
low complexity region 304 317 N/A INTRINSIC
low complexity region 364 376 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117355
AA Change: D67G

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113554
Gene: ENSMUSG00000005625
AA Change: D67G

DomainStartEndE-ValueType
VWA 2 188 7.38e-12 SMART
low complexity region 189 201 N/A INTRINSIC
UIM 211 230 2.04e0 SMART
UIM 285 304 1.49e-2 SMART
low complexity region 307 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140348
SMART Domains Protein: ENSMUSP00000114545
Gene: ENSMUSG00000005625

DomainStartEndE-ValueType
Pfam:UIM 34 42 2.4e-3 PFAM
UIM 100 119 1.49e-2 SMART
low complexity region 122 135 N/A INTRINSIC
low complexity region 182 194 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and abnormal embryogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,998,098 probably null Het
Arhgdib A G 6: 136,924,276 Y152H probably benign Het
Atxn10 T G 15: 85,393,393 S354A probably benign Het
Cacng6 T C 7: 3,424,885 V75A possibly damaging Het
Cdc23 A G 18: 34,651,688 V7A unknown Het
Cdc40 T A 10: 40,852,516 E157D probably benign Het
Defa25 T A 8: 21,085,237 N77K probably benign Het
Dsc2 C T 18: 20,032,274 G881R possibly damaging Het
Efcab6 T C 15: 83,983,498 K260E possibly damaging Het
Eif4a3 T C 11: 119,288,905 Y352C probably damaging Het
Erc2 A T 14: 28,011,692 K566N probably damaging Het
Fam3b A C 16: 97,481,852 Y74* probably null Het
Flg2 T A 3: 93,220,214 S2144R unknown Het
Fmo4 G T 1: 162,798,852 S375* probably null Het
Fsip2 A G 2: 82,986,891 T4323A probably benign Het
Gm11639 T C 11: 104,881,469 V2659A possibly damaging Het
Gm16503 A T 4: 147,541,310 H87L unknown Het
Hes7 C T 11: 69,122,765 A150V probably damaging Het
Hk1 T A 10: 62,296,699 N190I probably benign Het
Il17rc A G 6: 113,482,821 D576G probably damaging Het
Inhba T A 13: 16,026,275 S141T possibly damaging Het
Itga8 G T 2: 12,155,486 D840E probably benign Het
Kazn T C 4: 142,154,551 E126G Het
Kcnk13 A G 12: 99,966,179 Y78C probably damaging Het
Kcnt1 C A 2: 25,908,042 probably benign Het
Krt42 G C 11: 100,265,039 R294G possibly damaging Het
Myo9a A G 9: 59,780,091 K160E probably benign Het
Nlrp1b T C 11: 71,216,921 R585G probably benign Het
Ntrk2 T C 13: 58,874,379 I416T probably benign Het
Olfr1080 G A 2: 86,554,103 T7I probably damaging Het
Olfr1217 A T 2: 89,023,628 I125N probably damaging Het
Olfr177 T C 16: 58,872,691 N153S probably benign Het
Olfr652 T A 7: 104,565,109 I296N probably damaging Het
P4ha3 A G 7: 100,292,698 E106G probably damaging Het
Pcif1 A G 2: 164,886,522 N233S probably damaging Het
Pgm2l1 C A 7: 100,272,418 R619S probably damaging Het
Pkhd1l1 A G 15: 44,512,834 Q964R probably damaging Het
Pla2g4a T A 1: 149,901,213 I89F possibly damaging Het
Ppp1cc G A 5: 122,174,088 A306T probably benign Het
Ptprt G A 2: 162,135,457 T307I probably damaging Het
Rnf213 C A 11: 119,430,281 C1188* probably null Het
Ror2 C T 13: 53,113,157 C426Y probably damaging Het
Sacs C T 14: 61,204,191 H1229Y probably damaging Het
Slc25a25 A T 2: 32,421,505 L118Q probably damaging Het
Slc38a6 G A 12: 73,350,603 A340T probably benign Het
Smarca5 A T 8: 80,704,682 Y969N probably damaging Het
Sorbs1 C A 19: 40,326,489 M626I probably benign Het
Spink5 T A 18: 44,010,236 D753E probably benign Het
Taf1d T G 9: 15,310,399 I226S probably damaging Het
Tmem225 A G 9: 40,149,393 I83V possibly damaging Het
Top2b A G 14: 16,412,986 D965G probably damaging Het
Traf3ip1 A G 1: 91,501,419 K303E probably damaging Het
Ube2n C T 10: 95,541,382 R70C probably benign Het
Ubl7 C T 9: 57,923,206 P312S probably damaging Het
Vmn1r34 A T 6: 66,637,181 M191K probably damaging Het
Vmn2r103 C T 17: 19,793,497 H184Y probably benign Het
Vmn2r104 T C 17: 20,042,786 I138V probably benign Het
Vmn2r49 T C 7: 9,986,481 E361G possibly damaging Het
Vmn2r78 T C 7: 86,954,867 L751P probably damaging Het
Zc3h13 T A 14: 75,330,630 I1121N not run Het
Zfp235 T A 7: 24,141,689 V511E probably benign Het
Other mutations in Psmd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Psmd4 APN 3 95035910 missense probably damaging 1.00
R0173:Psmd4 UTSW 3 95032923 missense probably damaging 1.00
R1962:Psmd4 UTSW 3 95036701 missense possibly damaging 0.89
R2907:Psmd4 UTSW 3 95033962 missense probably damaging 0.99
R3781:Psmd4 UTSW 3 95036728 missense probably benign 0.09
R3783:Psmd4 UTSW 3 95035251 missense possibly damaging 0.85
R4902:Psmd4 UTSW 3 95035859 missense probably damaging 0.98
R5090:Psmd4 UTSW 3 95035248 missense possibly damaging 0.53
R9221:Psmd4 UTSW 3 95035293 missense probably damaging 1.00
R9312:Psmd4 UTSW 3 95033418 missense probably benign 0.00
R9428:Psmd4 UTSW 3 95033456 missense probably benign 0.00
X0024:Psmd4 UTSW 3 95036717 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCACTGGTCCAGGTCCTC -3'
(R):5'- ACCGGGTTTTCATGTAGTCC -3'

Sequencing Primer
(F):5'- GGTCCAGGTCCTCTCGTCTTG -3'
(R):5'- GGTGAGTGCTCTTAACCACTGAAC -3'
Posted On 2020-01-23