Incidental Mutation 'R7098:Psme4'
ID 550649
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 045190-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7098 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 30721726-30830361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30800661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1417 (T1417K)
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: T1417K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: T1417K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,784 (GRCm39) M223K probably benign Het
Abce1 T C 8: 80,412,678 (GRCm39) T550A probably benign Het
Acoxl C T 2: 127,696,835 (GRCm39) Q28* probably null Het
Adam8 T C 7: 139,559,412 (GRCm39) K820R possibly damaging Het
Adamts3 G T 5: 90,009,354 (GRCm39) A103D probably damaging Het
Apba2 T A 7: 64,386,696 (GRCm39) V441D probably damaging Het
Arap2 A G 5: 62,833,293 (GRCm39) probably null Het
Arhgef10l T A 4: 140,308,222 (GRCm39) M44L probably benign Het
Asb4 T C 6: 5,398,499 (GRCm39) C155R probably damaging Het
Bpifb6 A T 2: 153,748,810 (GRCm39) K269* probably null Het
Cc2d2a A T 5: 43,840,481 (GRCm39) T161S probably benign Het
Ccdc15 T A 9: 37,255,256 (GRCm39) Q98L probably damaging Het
Col19a1 A G 1: 24,565,555 (GRCm39) S259P unknown Het
Col5a2 A T 1: 45,419,227 (GRCm39) D1284E possibly damaging Het
Cyp2c70 T C 19: 40,168,931 (GRCm39) T119A probably benign Het
Dennd6b C T 15: 89,072,890 (GRCm39) C188Y probably damaging Het
Dhx8 T A 11: 101,628,594 (GRCm39) probably null Het
Dhx9 T C 1: 153,340,768 (GRCm39) K624R probably benign Het
Dpys C T 15: 39,656,727 (GRCm39) V447M probably damaging Het
E130308A19Rik T C 4: 59,753,004 (GRCm39) S706P possibly damaging Het
Esrrb A G 12: 86,517,189 (GRCm39) D107G probably benign Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Garin2 G A 12: 78,766,408 (GRCm39) probably null Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm136 T C 4: 34,746,628 (GRCm39) I128V probably benign Het
Gm6525 T A 3: 84,082,309 (GRCm39) C77S possibly damaging Het
Grid2ip T C 5: 143,343,346 (GRCm39) F14S probably damaging Het
Hdhd3 C T 4: 62,418,152 (GRCm39) R8H probably damaging Het
Kdelr1 C A 7: 45,523,480 (GRCm39) A69D possibly damaging Het
Krtap16-3 T A 16: 88,759,560 (GRCm39) Y51F unknown Het
Lrrc40 T A 3: 157,747,276 (GRCm39) N129K probably benign Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mcm5 T C 8: 75,847,529 (GRCm39) V442A probably damaging Het
Mfsd14a C T 3: 116,435,361 (GRCm39) A235T probably benign Het
Mmp1a C A 9: 7,475,938 (GRCm39) T401K probably benign Het
Mpig6b C T 17: 35,283,320 (GRCm39) R196Q unknown Het
Mroh1 C T 15: 76,292,657 (GRCm39) Q262* probably null Het
Msh3 A T 13: 92,410,619 (GRCm39) D656E possibly damaging Het
Muc4 A T 16: 32,577,465 (GRCm39) T252S Het
Myh15 C T 16: 48,997,420 (GRCm39) A1746V possibly damaging Het
Myh8 C A 11: 67,169,879 (GRCm39) T66K probably benign Het
Nemf A T 12: 69,359,241 (GRCm39) Y999N probably damaging Het
Neurod1 T C 2: 79,285,029 (GRCm39) N118S probably damaging Het
Nlrp1b T A 11: 71,109,100 (GRCm39) I134L possibly damaging Het
Nsun7 A T 5: 66,418,326 (GRCm39) I19F probably damaging Het
Ofcc1 A G 13: 40,157,442 (GRCm39) probably null Het
P2rx7 A G 5: 122,811,856 (GRCm39) E389G probably damaging Het
Pam C T 1: 97,826,072 (GRCm39) R194H probably benign Het
Pcnt A G 10: 76,220,673 (GRCm39) S2052P probably benign Het
Pfkfb4 T A 9: 108,828,222 (GRCm39) Y86N probably benign Het
Plcd3 T A 11: 102,968,689 (GRCm39) D334V probably damaging Het
Ppard T C 17: 28,517,787 (GRCm39) V285A possibly damaging Het
Prune2 A G 19: 17,097,966 (GRCm39) S1157G probably benign Het
Psg21 A T 7: 18,386,470 (GRCm39) L172H probably damaging Het
Ptprc T C 1: 138,027,423 (GRCm39) D336G probably benign Het
Ralgapa1 A T 12: 55,837,095 (GRCm39) probably null Het
Rap1gap C A 4: 137,443,393 (GRCm39) probably null Het
Scap T C 9: 110,201,310 (GRCm39) S100P possibly damaging Het
Scpep1 T C 11: 88,820,011 (GRCm39) I426V possibly damaging Het
Sdk1 T C 5: 142,082,625 (GRCm39) I1341T probably damaging Het
Sfmbt2 T A 2: 10,584,000 (GRCm39) Y786N probably benign Het
Sh3tc1 A T 5: 35,859,358 (GRCm39) probably null Het
Slc5a5 T A 8: 71,341,182 (GRCm39) I386F probably damaging Het
Smarca4 T G 9: 21,546,116 (GRCm39) M98R probably benign Het
St18 G A 1: 6,898,066 (GRCm39) D623N probably damaging Het
Sult2a1 A T 7: 13,549,978 (GRCm39) probably null Het
Tgfb2 C T 1: 186,362,834 (GRCm39) R330H probably damaging Het
Thoc3 A G 13: 54,614,119 (GRCm39) I168T probably damaging Het
Tmem126a C T 7: 90,100,062 (GRCm39) M160I possibly damaging Het
Tmem200b C T 4: 131,649,704 (GRCm39) P208L probably benign Het
Tnrc6c T C 11: 117,604,952 (GRCm39) V29A probably benign Het
Tsc1 C T 2: 28,565,744 (GRCm39) S465F probably benign Het
Ttll5 A G 12: 85,964,447 (GRCm39) probably null Het
Unc13d G T 11: 115,954,552 (GRCm39) L1019I probably damaging Het
Vmn2r102 A T 17: 19,914,670 (GRCm39) H745L probably damaging Het
Wars2 T G 3: 99,123,957 (GRCm39) S273A probably damaging Het
Xrcc6 C A 15: 81,919,955 (GRCm39) S498* probably null Het
Ybx1 A T 4: 119,140,050 (GRCm39) N92K possibly 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
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
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'- CCATGGTAAGATCCCTCACTTG -3'
(R):5'- CCCAAATTTTCCGAATGAGAAGCAG -3'

Sequencing Primer
(F):5'- CCCTCACTTGGGTGGTCTG -3'
(R):5'- TTACACTCAAAGGCTGTCAGG -3'
Posted On 2019-05-15