Incidental Mutation 'R1371:Psmc4'
ID 157313
Institutional Source Beutler Lab
Gene Symbol Psmc4
Ensembl Gene ENSMUSG00000030603
Gene Name proteasome (prosome, macropain) 26S subunit, ATPase, 4
Synonyms MIP224, CAR interacting protein 21, CIP21
MMRRC Submission 039435-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1371 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 27741127-27749517 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 27742222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032824] [ENSMUST00000140053]
AlphaFold P54775
Predicted Effect probably benign
Transcript: ENSMUST00000032824
SMART Domains Protein: ENSMUSP00000032824
Gene: ENSMUSG00000030603

DomainStartEndE-ValueType
low complexity region 47 59 N/A INTRINSIC
Blast:AAA 96 156 2e-31 BLAST
AAA 198 337 2.6e-24 SMART
Blast:AAA 368 418 7e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138512
Predicted Effect probably benign
Transcript: ENSMUST00000140053
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 89.0%
Validation Efficiency 100% (55/55)
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. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele and a conditional allele activated in motor neurons develop ALS-like symptoms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,379 (GRCm39) D884V probably damaging Het
Acvr2a C T 2: 48,789,628 (GRCm39) T457M probably damaging Het
Akr1b10 C T 6: 34,369,394 (GRCm39) T208I probably benign Het
Aldh16a1 G T 7: 44,796,674 (GRCm39) T275K possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asgr1 T G 11: 69,946,923 (GRCm39) C56W probably benign Het
Atp11b T C 3: 35,860,918 (GRCm39) I335T probably damaging Het
BC061237 A G 14: 44,741,762 (GRCm39) probably benign Het
Bdh1 G T 16: 31,275,720 (GRCm39) K280N probably benign Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Ccdc181 A G 1: 164,108,172 (GRCm39) E285G probably benign Het
Ces1f C T 8: 94,006,277 (GRCm39) G18R probably damaging Het
Cfap43 T A 19: 47,824,045 (GRCm39) I109L possibly damaging Het
Cma2 T C 14: 56,210,283 (GRCm39) L56S probably damaging Het
Edc4 A G 8: 106,617,382 (GRCm39) probably benign Het
F3 T C 3: 121,526,159 (GRCm39) C241R probably damaging Het
Fhdc1 T A 3: 84,352,310 (GRCm39) S972C probably damaging Het
Heatr1 T G 13: 12,432,513 (GRCm39) I1086R possibly damaging Het
Hsh2d A T 8: 72,950,738 (GRCm39) probably benign Het
Ice1 T C 13: 70,744,340 (GRCm39) Y2081C probably damaging Het
Il1rl1 A G 1: 40,481,873 (GRCm39) N194D probably damaging Het
Ip6k1 G A 9: 107,923,022 (GRCm39) V385M probably damaging Het
Lig1 G A 7: 13,022,611 (GRCm39) R147Q probably damaging Het
Lrp1b C T 2: 40,537,165 (GRCm39) V41I probably damaging Het
Macroh2a2 A T 10: 61,585,112 (GRCm39) D177E possibly damaging Het
Mst1r T A 9: 107,794,424 (GRCm39) V1201E probably damaging Het
Myof T C 19: 37,892,116 (GRCm39) probably benign Het
Nbas G T 12: 13,532,379 (GRCm39) probably benign Het
Ndst1 A G 18: 60,840,719 (GRCm39) I321T possibly damaging Het
Nek10 G A 14: 14,850,983 (GRCm38) G343R probably damaging Het
Or2a7 A T 6: 43,151,234 (GRCm39) T105S probably benign Het
Or2y1 T A 11: 49,385,650 (GRCm39) C97S probably damaging Het
Or4d2b A T 11: 87,780,122 (GRCm39) I200N probably damaging Het
Pde4d T C 13: 109,253,595 (GRCm39) S141P probably benign Het
Pigm A T 1: 172,204,381 (GRCm39) Q39L probably damaging Het
Prl7a2 T A 13: 27,846,750 (GRCm39) I88F probably benign Het
Prss16 T A 13: 22,192,856 (GRCm39) probably benign Het
Ptger3 T A 3: 157,273,365 (GRCm39) C237* probably null Het
Recql G A 6: 142,318,601 (GRCm39) T214M probably damaging Het
Rfx7 T A 9: 72,526,857 (GRCm39) V1349D probably damaging Het
Ros1 A G 10: 51,964,041 (GRCm39) S1740P probably damaging Het
Rrm2b A T 15: 37,947,053 (GRCm39) S83T probably benign Het
Sall4 A G 2: 168,598,394 (GRCm39) Y149H probably benign Het
Smad1 A G 8: 80,076,207 (GRCm39) probably benign Het
Snrnp70 T C 7: 45,030,129 (GRCm39) probably benign Het
Spef2 C A 15: 9,725,194 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,505,660 (GRCm39) T253A probably benign Het
Zbbx T C 3: 74,959,784 (GRCm39) Y595C possibly damaging Het
Zfp382 T C 7: 29,833,114 (GRCm39) V255A probably benign Het
Other mutations in Psmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03023:Psmc4 APN 7 27,742,285 (GRCm39) missense possibly damaging 0.85
IGL03054:Psmc4 UTSW 7 27,746,605 (GRCm39) missense probably damaging 1.00
R0117:Psmc4 UTSW 7 27,742,165 (GRCm39) splice site probably benign
R0725:Psmc4 UTSW 7 27,748,287 (GRCm39) missense probably benign
R2063:Psmc4 UTSW 7 27,748,322 (GRCm39) missense probably damaging 0.97
R4833:Psmc4 UTSW 7 27,746,937 (GRCm39) missense probably damaging 1.00
R5942:Psmc4 UTSW 7 27,746,480 (GRCm39) missense probably damaging 1.00
R7307:Psmc4 UTSW 7 27,742,085 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGAGCCCTAAACCTTCACATTGACG -3'
(R):5'- AATTCCCAGAGGCAGGTAAAGCAC -3'

Sequencing Primer
(F):5'- CACATTGACGTTCTGGTCAAATC -3'
(R):5'- AACCCCCCATTCTAAAATCCTTGTC -3'
Posted On 2014-02-18