Incidental Mutation 'IGL02608:Psme4'
ID 300377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02608
Quality Score
Status
Chromosome 11
Chromosomal Location 30721726-30830361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30770944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 764 (N764S)
Ref Sequence ENSEMBL: ENSMUSP00000045460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041231]
AlphaFold Q5SSW2
Predicted Effect probably benign
Transcript: ENSMUST00000041231
AA Change: N764S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: N764S

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 noncoding transcript
Transcript: ENSMUST00000121892
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging 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
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
R1448:Psme4 UTSW 11 30,802,744 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16