Incidental Mutation 'R2142:Psme4'
ID 236392
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 040145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2142 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 30721726-30830361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30770998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 782 (Y782C)
Ref Sequence ENSEMBL: ENSMUSP00000045460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041231]
AlphaFold Q5SSW2
Predicted Effect possibly damaging
Transcript: ENSMUST00000041231
AA Change: Y782C

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: Y782C

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Adgrb3 G T 1: 25,107,290 (GRCm39) P640T probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Afdn A G 17: 14,030,695 (GRCm39) E202G probably damaging Het
Alkbh2 C T 5: 114,263,777 (GRCm39) V77I probably benign Het
Angpt2 T C 8: 18,764,156 (GRCm39) T129A probably benign Het
Atp6v0a4 T A 6: 38,059,871 (GRCm39) K236* probably null Het
Baz1b G A 5: 135,246,129 (GRCm39) R526H probably damaging Het
Bltp3b A G 10: 89,647,910 (GRCm39) D207G probably damaging Het
Bscl2 T C 19: 8,822,684 (GRCm39) probably null Het
Btnl9 G T 11: 49,061,453 (GRCm39) probably null Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cdh8 C A 8: 99,838,325 (GRCm39) C505F probably damaging Het
Cep112 A G 11: 108,497,151 (GRCm39) E697G probably damaging Het
Ces1c T A 8: 93,857,468 (GRCm39) I38F probably benign Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Col25a1 A G 3: 130,363,965 (GRCm39) H546R probably damaging Het
Crot A T 5: 9,037,780 (GRCm39) Y179N possibly damaging Het
Dck T C 5: 88,920,582 (GRCm39) C101R probably damaging Het
Ddb1 T C 19: 10,596,490 (GRCm39) probably null Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Elf2 A G 3: 51,163,861 (GRCm39) V496A probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fbn1 T G 2: 125,254,628 (GRCm39) T212P possibly damaging Het
Fuca2 A G 10: 13,381,609 (GRCm39) Y174C probably damaging Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gdf2 A G 14: 33,667,198 (GRCm39) T307A probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Glyatl3 T C 17: 41,221,975 (GRCm39) D93G probably benign Het
Gm266 C T 12: 111,451,615 (GRCm39) R197K possibly damaging Het
Gns G A 10: 121,228,683 (GRCm39) R498H probably damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Grk6 T C 13: 55,602,177 (GRCm39) W335R probably damaging Het
Helz2 T C 2: 180,873,173 (GRCm39) E2379G probably benign Het
Hmx2 A T 7: 131,157,588 (GRCm39) D234V probably damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Ipo9 CCT CCTTCT 1: 135,314,020 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 TCC TCCGCC 1: 135,314,013 (GRCm39) probably benign Het
Itpkc A G 7: 26,919,075 (GRCm39) V397A possibly damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kat5 T A 19: 5,655,713 (GRCm39) probably null Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kdr T C 5: 76,129,083 (GRCm39) T188A possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Laptm4b G T 15: 34,238,478 (GRCm39) M3I probably benign Het
Macf1 C T 4: 123,248,895 (GRCm39) C7210Y probably damaging Het
Man1a T C 10: 53,811,094 (GRCm39) N338S probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Micall1 T C 15: 79,014,995 (GRCm39) Y751H probably damaging Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myh2 A G 11: 67,080,158 (GRCm39) E1124G probably damaging Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nipa1 C A 7: 55,647,259 (GRCm39) probably null Het
Nrbp1 A G 5: 31,405,273 (GRCm39) E287G possibly damaging Het
Nup188 T A 2: 30,226,718 (GRCm39) I1165N possibly damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or14j4 T G 17: 37,921,362 (GRCm39) E93D probably benign Het
Or2y13 A G 11: 49,414,666 (GRCm39) I39V probably benign Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k48 C A 2: 111,475,566 (GRCm39) V259L probably benign Het
Or51a10 C T 7: 103,699,507 (GRCm39) G18D probably damaging Het
Or6c1b A G 10: 129,273,616 (GRCm39) K312E probably benign Het
Or9g3 C T 2: 85,590,021 (GRCm39) R233H probably benign Het
Panx3 G C 9: 37,577,969 (GRCm39) S87W probably damaging Het
Parp8 T A 13: 117,031,422 (GRCm39) D430V probably benign Het
Pcdhb11 A G 18: 37,555,176 (GRCm39) N169D probably benign Het
Pdzd2 C A 15: 12,406,645 (GRCm39) G605V probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Pkhd1 T A 1: 20,594,119 (GRCm39) K1331N probably benign Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Plec T C 15: 76,067,374 (GRCm39) T1331A probably benign Het
Pot1a T C 6: 25,750,043 (GRCm39) probably null Het
Prb1a T A 6: 132,184,166 (GRCm39) Q489L unknown Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Rab11fip5 T C 6: 85,314,210 (GRCm39) probably null Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rit2 A G 18: 31,286,766 (GRCm39) F140L probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rorc G A 3: 94,296,833 (GRCm39) R271Q probably benign Het
Sall3 A T 18: 81,013,046 (GRCm39) M1130K probably damaging Het
Sart3 T C 5: 113,902,154 (GRCm39) E141G probably damaging Het
Serpina9 T C 12: 103,974,568 (GRCm39) D195G probably benign Het
Slitrk6 T G 14: 110,988,226 (GRCm39) T494P probably benign Het
Tars3 A T 7: 65,308,645 (GRCm39) I272L probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tdpoz3 C T 3: 93,734,206 (GRCm39) H294Y probably benign Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tigd4 A G 3: 84,501,670 (GRCm39) T196A possibly damaging Het
Treh G A 9: 44,592,438 (GRCm39) M54I probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubap1 C T 4: 41,379,257 (GRCm39) A157V probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Xrcc6 T A 15: 81,907,178 (GRCm39) F167I probably damaging Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp606 T C 7: 12,213,653 (GRCm39) I4T probably damaging Het
Zfp638 T A 6: 83,963,578 (GRCm39) N1918K probably damaging Het
Zfp65 G T 13: 67,856,311 (GRCm39) H333N 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
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
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
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'- AGTCTCTTTTGCACATATTGGC -3'
(R):5'- ATGTTTATGTATCATGGGGCTACAG -3'

Sequencing Primer
(F):5'- GGCTCATATTATTTCTATGTCTGCC -3'
(R):5'- TACAGATGGCTCAGTTCCCAG -3'
Posted On 2014-10-01