Incidental Mutation 'R1448:Psme4'
ID 159063
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 039503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1448 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 30721726-30830361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30802744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1487 (L1487R)
Ref Sequence ENSEMBL: ENSMUSP00000045460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041231] [ENSMUST00000129824]
AlphaFold Q5SSW2
Predicted Effect probably damaging
Transcript: ENSMUST00000041231
AA Change: L1487R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: L1487R

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 122 133 N/A INTRINSIC
Pfam:BLM10_mid 330 828 8.8e-119 PFAM
SCOP:d1b3ua_ 1183 1716 3e-14 SMART
Pfam:DUF3437 1756 1843 5.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129824
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show normal repair of DNA double-strand breaks but exhibit significantly reduced male fertility due to defects in spermatogenesis observed in both meiotic spermatocytes and postmeiotic haploid spermatids. [provided by MGI curators]
Allele List at MGI

All alleles(25) : Targeted, knock-out(1) Gene trapped(24)

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T A 7: 107,223,952 (GRCm39) probably benign Het
A1cf A T 19: 31,886,196 (GRCm39) N35I possibly damaging Het
Abca2 T C 2: 25,330,542 (GRCm39) I1106T possibly damaging Het
Abca4 G A 3: 121,956,577 (GRCm39) probably null Het
Adgrv1 T C 13: 81,581,632 (GRCm39) D4804G probably benign Het
Adk T A 14: 21,102,708 (GRCm39) M1K probably null Het
Aff3 T C 1: 38,230,364 (GRCm39) N1006D probably damaging Het
Akap12 A G 10: 4,305,475 (GRCm39) T762A probably benign Het
Atosa C G 9: 74,917,456 (GRCm39) S685* probably null Het
Atp12a T A 14: 56,623,296 (GRCm39) M843K probably damaging Het
Bbx T A 16: 50,086,633 (GRCm39) K169* probably null Het
Bicra A T 7: 15,722,284 (GRCm39) V411E possibly damaging Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Cel T C 2: 28,446,338 (GRCm39) Y511C probably damaging Het
Celf4 G T 18: 25,636,140 (GRCm39) probably null Het
Clasp1 A G 1: 118,436,646 (GRCm39) N310S probably benign Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cstf1 A G 2: 172,217,795 (GRCm39) D136G probably damaging Het
Cwc22 T A 2: 77,741,899 (GRCm39) E470D probably damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Cytip A G 2: 58,035,192 (GRCm39) I168T probably damaging Het
D5Ertd579e A G 5: 36,760,083 (GRCm39) L1359P probably benign Het
Ddx25 A C 9: 35,469,034 (GRCm39) V26G probably benign Het
Dennd4a T A 9: 64,813,327 (GRCm39) S1429T possibly damaging Het
Dmd A G X: 83,892,306 (GRCm39) D2990G probably damaging Het
Dop1a C A 9: 86,424,785 (GRCm39) probably null Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fabp6 T A 11: 43,486,992 (GRCm39) I112F probably benign Het
Fbxw10 T C 11: 62,738,418 (GRCm39) V104A possibly damaging Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Grin3a T C 4: 49,702,804 (GRCm39) Y894C probably damaging Het
Hydin C T 8: 111,173,217 (GRCm39) H967Y probably benign Het
Ip6k3 T C 17: 27,364,242 (GRCm39) K269E possibly damaging Het
Jup T C 11: 100,274,026 (GRCm39) K172E probably damaging Het
Katnal1 T C 5: 148,841,486 (GRCm39) D126G probably benign Het
Knl1 A T 2: 118,898,788 (GRCm39) K163M probably damaging Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lct T A 1: 128,235,559 (GRCm39) I483F probably damaging Het
Loxl2 G A 14: 69,930,489 (GRCm39) G751D probably damaging Het
Ltbp4 G A 7: 27,006,002 (GRCm39) R1559C possibly damaging Het
Man2c1 T A 9: 57,042,503 (GRCm39) D183E probably benign Het
Med17 T C 9: 15,187,139 (GRCm39) probably null Het
Mrgpra9 A C 7: 46,885,561 (GRCm39) S34R probably benign Het
Mrpl44 T A 1: 79,755,677 (GRCm39) N94K probably damaging Het
Nat8f1 A G 6: 85,887,924 (GRCm39) V12A probably benign Het
Nr2e3 C A 9: 59,850,797 (GRCm39) G354V probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup155 T C 15: 8,141,890 (GRCm39) V94A probably benign Het
Or14a256 A T 7: 86,265,569 (GRCm39) C95S probably damaging Het
Or52h2 C T 7: 103,839,082 (GRCm39) V111I possibly damaging Het
Or5p76 T C 7: 108,122,525 (GRCm39) I211V probably benign Het
Or9q2 A T 19: 13,772,140 (GRCm39) Y278* probably null Het
Pcdhb10 A T 18: 37,545,556 (GRCm39) I211F possibly damaging Het
Phip A C 9: 82,797,476 (GRCm39) I509S possibly damaging Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Ptgdr2 A G 19: 10,917,857 (GRCm39) S125G probably damaging Het
Ptpro A G 6: 137,418,114 (GRCm39) K126E probably damaging Het
Rdh16f2 T A 10: 127,712,794 (GRCm39) V264E probably benign Het
Ric8b C T 10: 84,783,535 (GRCm39) A131V possibly damaging Het
Rock1 A T 18: 10,070,233 (GRCm39) I1280N probably damaging Het
Rprd2 A G 3: 95,725,888 (GRCm39) V59A possibly damaging Het
Ruvbl1 T A 6: 88,444,551 (GRCm39) C49S probably benign Het
Scn2a A G 2: 65,514,189 (GRCm39) N291S probably benign Het
Serbp1 T A 6: 67,254,904 (GRCm39) H325Q probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Shisal2b T C 13: 104,982,470 (GRCm39) I151V probably benign Het
Slitrk3 G A 3: 72,957,674 (GRCm39) T366I probably damaging Het
Spryd3 A T 15: 102,026,827 (GRCm39) H307Q possibly damaging Het
Spx A T 6: 142,364,239 (GRCm39) D100V probably benign Het
Surf4 A G 2: 26,814,476 (GRCm39) F142L probably damaging Het
Syne2 T A 12: 76,067,099 (GRCm39) probably null Het
Syne2 T C 12: 76,098,952 (GRCm39) M5278T possibly damaging Het
Thap12 T C 7: 98,365,230 (GRCm39) V466A probably benign Het
Thap3 T C 4: 152,067,673 (GRCm39) K135R possibly damaging Het
Tmem131 G T 1: 36,866,439 (GRCm39) D448E probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Trim43a G T 9: 88,464,146 (GRCm39) C19F probably damaging Het
Trp63 C T 16: 25,707,870 (GRCm39) P526L possibly damaging Het
Ubqln3 T C 7: 103,791,997 (GRCm39) D31G probably damaging Het
Utp14b C A 1: 78,643,162 (GRCm39) N353K probably damaging Het
Vmn1r40 A G 6: 89,691,558 (GRCm39) K125R probably damaging Het
Vmn2r1 A G 3: 64,008,734 (GRCm39) Y471C probably damaging Het
Vmn2r13 A G 5: 109,322,001 (GRCm39) I232T probably damaging Het
Zfp263 A C 16: 3,564,323 (GRCm39) E204D probably benign Het
Zfp865 A T 7: 5,032,278 (GRCm39) K88* probably null Het
Other mutations in Psme4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Psme4 APN 11 30,765,710 (GRCm39) critical splice donor site probably null
IGL00401:Psme4 APN 11 30,771,079 (GRCm39) splice site probably benign
IGL00475:Psme4 APN 11 30,795,252 (GRCm39) missense probably benign 0.14
IGL00576:Psme4 APN 11 30,773,145 (GRCm39) missense possibly damaging 0.50
IGL00817:Psme4 APN 11 30,770,129 (GRCm39) missense probably benign 0.01
IGL01525:Psme4 APN 11 30,759,936 (GRCm39) splice site probably benign
IGL01862:Psme4 APN 11 30,762,038 (GRCm39) nonsense probably null
IGL02310:Psme4 APN 11 30,787,484 (GRCm39) missense probably benign 0.06
IGL02477:Psme4 APN 11 30,792,083 (GRCm39) missense probably damaging 0.99
IGL02545:Psme4 APN 11 30,791,586 (GRCm39) missense possibly damaging 0.81
IGL02608:Psme4 APN 11 30,770,944 (GRCm39) missense probably benign 0.34
IGL02621:Psme4 APN 11 30,798,131 (GRCm39) missense probably benign
IGL02822:Psme4 APN 11 30,798,204 (GRCm39) unclassified probably benign
IGL02833:Psme4 APN 11 30,800,715 (GRCm39) unclassified probably benign
IGL02964:Psme4 APN 11 30,741,095 (GRCm39) nonsense probably null
IGL03273:Psme4 APN 11 30,798,130 (GRCm39) missense probably damaging 1.00
IGL03348:Psme4 APN 11 30,826,796 (GRCm39) missense probably damaging 1.00
IGL03382:Psme4 APN 11 30,757,788 (GRCm39) missense possibly damaging 0.94
H2330:Psme4 UTSW 11 30,801,210 (GRCm39) missense probably benign 0.17
PIT4378001:Psme4 UTSW 11 30,771,079 (GRCm39) splice site probably benign
R0276:Psme4 UTSW 11 30,761,980 (GRCm39) missense probably damaging 1.00
R0462:Psme4 UTSW 11 30,798,117 (GRCm39) missense probably damaging 1.00
R0685:Psme4 UTSW 11 30,828,415 (GRCm39) missense probably damaging 1.00
R0766:Psme4 UTSW 11 30,757,687 (GRCm39) splice site probably null
R0830:Psme4 UTSW 11 30,757,797 (GRCm39) missense possibly damaging 0.53
R0940:Psme4 UTSW 11 30,765,264 (GRCm39) missense possibly damaging 0.53
R1018:Psme4 UTSW 11 30,754,310 (GRCm39) missense probably damaging 1.00
R1312:Psme4 UTSW 11 30,757,687 (GRCm39) splice site probably null
R1713:Psme4 UTSW 11 30,756,310 (GRCm39) missense probably damaging 1.00
R1732:Psme4 UTSW 11 30,798,105 (GRCm39) missense probably benign 0.03
R1813:Psme4 UTSW 11 30,754,353 (GRCm39) missense probably benign 0.14
R1905:Psme4 UTSW 11 30,760,922 (GRCm39) missense probably damaging 1.00
R1907:Psme4 UTSW 11 30,760,922 (GRCm39) missense probably damaging 1.00
R1911:Psme4 UTSW 11 30,765,658 (GRCm39) missense probably benign 0.02
R1956:Psme4 UTSW 11 30,782,424 (GRCm39) missense probably damaging 0.99
R1974:Psme4 UTSW 11 30,769,011 (GRCm39) missense probably benign 0.00
R1980:Psme4 UTSW 11 30,782,615 (GRCm39) missense possibly damaging 0.84
R1986:Psme4 UTSW 11 30,780,352 (GRCm39) missense probably benign 0.01
R2046:Psme4 UTSW 11 30,767,723 (GRCm39) splice site probably benign
R2142:Psme4 UTSW 11 30,770,998 (GRCm39) missense possibly damaging 0.89
R2698:Psme4 UTSW 11 30,824,282 (GRCm39) critical splice donor site probably null
R2844:Psme4 UTSW 11 30,795,173 (GRCm39) splice site probably benign
R3807:Psme4 UTSW 11 30,806,027 (GRCm39) splice site probably null
R3876:Psme4 UTSW 11 30,806,068 (GRCm39) missense probably damaging 0.99
R4420:Psme4 UTSW 11 30,762,028 (GRCm39) missense possibly damaging 0.67
R4584:Psme4 UTSW 11 30,784,318 (GRCm39) missense probably damaging 1.00
R4615:Psme4 UTSW 11 30,784,287 (GRCm39) missense probably benign 0.02
R4714:Psme4 UTSW 11 30,782,573 (GRCm39) missense probably benign 0.02
R5008:Psme4 UTSW 11 30,806,896 (GRCm39) intron probably benign
R5109:Psme4 UTSW 11 30,741,095 (GRCm39) nonsense probably null
R5155:Psme4 UTSW 11 30,826,806 (GRCm39) missense probably damaging 1.00
R5199:Psme4 UTSW 11 30,803,272 (GRCm39) missense probably benign 0.00
R5205:Psme4 UTSW 11 30,782,666 (GRCm39) intron probably benign
R5452:Psme4 UTSW 11 30,741,168 (GRCm39) missense probably benign
R5491:Psme4 UTSW 11 30,765,246 (GRCm39) missense possibly damaging 0.63
R5685:Psme4 UTSW 11 30,759,837 (GRCm39) missense probably damaging 0.99
R5764:Psme4 UTSW 11 30,722,364 (GRCm39) intron probably benign
R5853:Psme4 UTSW 11 30,741,234 (GRCm39) critical splice donor site probably null
R5865:Psme4 UTSW 11 30,741,993 (GRCm39) missense possibly damaging 0.95
R5903:Psme4 UTSW 11 30,791,589 (GRCm39) missense probably benign 0.28
R5927:Psme4 UTSW 11 30,754,294 (GRCm39) missense possibly damaging 0.82
R6004:Psme4 UTSW 11 30,806,896 (GRCm39) intron probably benign
R6102:Psme4 UTSW 11 30,815,567 (GRCm39) missense probably damaging 1.00
R6247:Psme4 UTSW 11 30,803,245 (GRCm39) missense possibly damaging 0.60
R6527:Psme4 UTSW 11 30,782,175 (GRCm39) missense probably benign
R6750:Psme4 UTSW 11 30,803,203 (GRCm39) missense probably damaging 1.00
R6885:Psme4 UTSW 11 30,784,307 (GRCm39) nonsense probably null
R6939:Psme4 UTSW 11 30,787,291 (GRCm39) missense probably damaging 0.99
R6945:Psme4 UTSW 11 30,787,437 (GRCm39) missense probably benign 0.06
R7029:Psme4 UTSW 11 30,722,474 (GRCm39) intron probably benign
R7049:Psme4 UTSW 11 30,763,904 (GRCm39) splice site probably null
R7098:Psme4 UTSW 11 30,800,661 (GRCm39) missense probably damaging 0.99
R7107:Psme4 UTSW 11 30,798,105 (GRCm39) missense probably benign 0.03
R7223:Psme4 UTSW 11 30,824,226 (GRCm39) missense probably benign 0.33
R7319:Psme4 UTSW 11 30,757,790 (GRCm39) missense probably benign 0.00
R7375:Psme4 UTSW 11 30,722,700 (GRCm39) splice site probably null
R7410:Psme4 UTSW 11 30,765,279 (GRCm39) nonsense probably null
R7469:Psme4 UTSW 11 30,752,837 (GRCm39) missense probably benign 0.20
R7651:Psme4 UTSW 11 30,787,334 (GRCm39) missense probably damaging 0.98
R7679:Psme4 UTSW 11 30,828,425 (GRCm39) missense probably damaging 0.99
R7681:Psme4 UTSW 11 30,741,975 (GRCm39) missense possibly damaging 0.63
R7822:Psme4 UTSW 11 30,824,245 (GRCm39) missense probably benign
R8013:Psme4 UTSW 11 30,754,320 (GRCm39) missense probably benign 0.06
R8130:Psme4 UTSW 11 30,792,026 (GRCm39) missense probably damaging 1.00
R8323:Psme4 UTSW 11 30,793,532 (GRCm39) missense probably damaging 0.99
R8330:Psme4 UTSW 11 30,793,583 (GRCm39) missense probably benign 0.00
R8363:Psme4 UTSW 11 30,762,139 (GRCm39) missense probably damaging 1.00
R8491:Psme4 UTSW 11 30,722,161 (GRCm39) missense possibly damaging 0.90
R8690:Psme4 UTSW 11 30,787,319 (GRCm39) missense probably benign 0.00
R8696:Psme4 UTSW 11 30,759,896 (GRCm39) missense probably damaging 0.99
R8743:Psme4 UTSW 11 30,828,467 (GRCm39) missense probably damaging 1.00
R8998:Psme4 UTSW 11 30,788,957 (GRCm39) missense possibly damaging 0.78
R9241:Psme4 UTSW 11 30,815,576 (GRCm39) missense probably damaging 1.00
R9657:Psme4 UTSW 11 30,788,980 (GRCm39) missense probably benign 0.00
R9736:Psme4 UTSW 11 30,797,411 (GRCm39) missense probably damaging 0.99
R9744:Psme4 UTSW 11 30,765,294 (GRCm39) critical splice donor site probably null
R9746:Psme4 UTSW 11 30,826,868 (GRCm39) nonsense probably null
V5088:Psme4 UTSW 11 30,801,210 (GRCm39) missense probably benign 0.17
X0063:Psme4 UTSW 11 30,782,600 (GRCm39) missense possibly damaging 0.66
Z1176:Psme4 UTSW 11 30,793,522 (GRCm39) missense possibly damaging 0.87
Z1177:Psme4 UTSW 11 30,762,138 (GRCm39) missense probably damaging 1.00
Z1177:Psme4 UTSW 11 30,756,311 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGTTTGTGGTGATCCAAGAGAAAG -3'
(R):5'- TGAGGGGCAACCCTGTAGTATGATG -3'

Sequencing Primer
(F):5'- TCCAAGAGAAAGCAGGAAAAGATTG -3'
(R):5'- CAGTGCTCCCAATTCATATTCGAAG -3'
Posted On 2014-03-14