Incidental Mutation 'R4239:Psma7'
ID 321242
Institutional Source Beutler Lab
Gene Symbol Psma7
Ensembl Gene ENSMUSG00000027566
Gene Name proteasome subunit alpha 7
Synonyms C6-I
MMRRC Submission 041056-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R4239 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 179678167-179684226 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 179681304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029082] [ENSMUST00000041126] [ENSMUST00000055485] [ENSMUST00000058764] [ENSMUST00000129529]
AlphaFold Q9Z2U0
Predicted Effect probably benign
Transcript: ENSMUST00000029082
SMART Domains Protein: ENSMUSP00000029082
Gene: ENSMUSG00000027566

DomainStartEndE-ValueType
Proteasome_A_N 3 25 1.84e-9 SMART
Pfam:Proteasome 26 211 1.5e-65 PFAM
low complexity region 223 246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041126
SMART Domains Protein: ENSMUSP00000041288
Gene: ENSMUSG00000039086

DomainStartEndE-ValueType
Pfam:SSXT 13 74 4.3e-35 PFAM
low complexity region 85 106 N/A INTRINSIC
low complexity region 215 238 N/A INTRINSIC
low complexity region 244 251 N/A INTRINSIC
low complexity region 311 375 N/A INTRINSIC
low complexity region 390 402 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055485
SMART Domains Protein: ENSMUSP00000055036
Gene: ENSMUSG00000039108

DomainStartEndE-ValueType
LSM14 3 100 4.33e-53 SMART
low complexity region 123 142 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
FDF 247 350 3.37e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000058764
SMART Domains Protein: ENSMUSP00000062519
Gene: ENSMUSG00000039108

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
low complexity region 28 44 N/A INTRINSIC
low complexity region 136 158 N/A INTRINSIC
FDF 167 270 3.37e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126021
Predicted Effect probably benign
Transcript: ENSMUST00000129529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155898
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (55/58)
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. 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 peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Alpk2 T A 18: 65,433,212 (GRCm39) I1765F probably damaging Het
Ano5 T A 7: 51,237,414 (GRCm39) I696N probably damaging Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Atad2b A G 12: 5,035,710 (GRCm39) N759D probably benign Het
B4galnt4 T C 7: 140,641,239 (GRCm39) L18P probably damaging Het
Boc T C 16: 44,312,247 (GRCm39) D605G probably damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Clip2 A G 5: 134,564,051 (GRCm39) probably benign Het
Cog4 T C 8: 111,585,244 (GRCm39) I303T probably damaging Het
Col18a1 C T 10: 76,932,001 (GRCm39) V363I unknown Het
Crip3 A T 17: 46,742,156 (GRCm39) K184* probably null Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Dnah3 G A 7: 119,628,248 (GRCm39) Q1459* probably null Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Ehhadh T G 16: 21,581,438 (GRCm39) D518A probably damaging Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fbxl3 G A 14: 103,326,854 (GRCm39) S176L probably damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ifi214 A T 1: 173,352,509 (GRCm39) S307T possibly damaging Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Large2 A G 2: 92,196,950 (GRCm39) probably benign Het
Myo5c T C 9: 75,191,224 (GRCm39) I1086T probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Or51f1d T C 7: 102,701,003 (GRCm39) V166A probably benign Het
Or5g25 T A 2: 85,478,647 (GRCm39) Q6L probably damaging Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Plcb1 A T 2: 135,186,078 (GRCm39) I682F probably damaging Het
Plcz1 T A 6: 139,986,344 (GRCm39) probably null Het
Prl7a1 T A 13: 27,821,549 (GRCm39) Q129L possibly damaging Het
Prrt4 T C 6: 29,170,163 (GRCm39) Y763C probably damaging Het
Serpinb6b G C 13: 33,156,246 (GRCm39) C112S probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Slc35f5 G A 1: 125,500,211 (GRCm39) A242T possibly damaging Het
Speer4b T C 5: 27,706,311 (GRCm39) R19G probably benign Het
Trank1 A G 9: 111,196,103 (GRCm39) I1376V probably benign Het
Trbv12-2 A G 6: 41,095,831 (GRCm39) N12D probably benign Het
Uba7 T C 9: 107,854,001 (GRCm39) probably null Het
Upf3a A G 8: 13,846,591 (GRCm39) R324G probably benign Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Wbp2 G A 11: 115,971,373 (GRCm39) probably benign Het
Wdpcp T A 11: 21,645,269 (GRCm39) N232K probably damaging Het
Wdpcp T A 11: 21,645,271 (GRCm39) M233K probably benign Het
Zfp157 A G 5: 138,445,803 (GRCm39) I53V probably damaging Het
Other mutations in Psma7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0270:Psma7 UTSW 2 179,681,193 (GRCm39) missense probably benign 0.07
R1686:Psma7 UTSW 2 179,679,215 (GRCm39) missense probably benign 0.00
R9780:Psma7 UTSW 2 179,678,339 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACCAATGCTCTGCTTGCCAC -3'
(R):5'- AGGGCATGAAATTGGCATTCAG -3'

Sequencing Primer
(F):5'- CCCTGGTTCAACTTATACCTGCAAAG -3'
(R):5'- TGGCATTCAGGTCCTGATAAC -3'
Posted On 2015-06-12