Incidental Mutation 'R7107:Psme4'
ID 551261
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 045199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7107 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 30721726-30830361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30798105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1366 (R1366H)
Ref Sequence ENSEMBL: ENSMUSP00000045460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041231] [ENSMUST00000129824]
AlphaFold Q5SSW2
Predicted Effect probably benign
Transcript: ENSMUST00000041231
AA Change: R1366H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: R1366H

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (78/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,867,299 (GRCm39) L253S probably damaging Het
Adgrv1 T C 13: 81,726,261 (GRCm39) E588G probably benign Het
Ahcy G A 2: 154,910,893 (GRCm39) A25V probably damaging Het
Ank2 A C 3: 126,797,631 (GRCm39) L710R probably damaging Het
Ap1b1 A G 11: 4,989,558 (GRCm39) T824A probably benign Het
Arap2 T A 5: 62,763,551 (GRCm39) H1531L probably damaging Het
Atosb A T 4: 43,036,434 (GRCm39) V99E probably benign Het
B3gnt7 T C 1: 86,233,495 (GRCm39) L247P probably damaging Het
Bcl6b A G 11: 70,117,396 (GRCm39) C409R probably damaging Het
Bicdl1 T C 5: 115,808,229 (GRCm39) H301R probably benign Het
Casc3 T A 11: 98,718,413 (GRCm39) I491N possibly damaging Het
Ccdc92b T A 11: 74,520,887 (GRCm39) L63Q probably damaging Het
Cep250 A G 2: 155,837,314 (GRCm39) T2319A probably benign Het
Chd1 T C 17: 15,981,628 (GRCm39) S1356P probably damaging Het
Chd8 A G 14: 52,450,129 (GRCm39) S1542P probably benign Het
Clec2m A G 6: 129,299,915 (GRCm39) C188R probably damaging Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Cpsf4l G A 11: 113,593,315 (GRCm39) R90C possibly damaging Het
Defa21 G A 8: 21,515,724 (GRCm39) A41T probably damaging Het
Dennd4a G T 9: 64,801,681 (GRCm39) L941F possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dtx4 A T 19: 12,450,624 (GRCm39) C529* probably null Het
Entpd3 A G 9: 120,389,665 (GRCm39) Y317C probably damaging Het
Erp29 T A 5: 121,583,381 (GRCm39) I182F possibly damaging Het
Fam161a A G 11: 22,973,452 (GRCm39) R445G possibly damaging Het
Fam76a T A 4: 132,631,232 (GRCm39) M238L possibly damaging Het
Fn1 T C 1: 71,666,408 (GRCm39) Y875C probably damaging Het
Gnb2 A G 5: 137,528,444 (GRCm39) probably null Het
Hspg2 T C 4: 137,237,963 (GRCm39) S229P probably damaging Het
Ighv6-6 A G 12: 114,398,590 (GRCm39) S59P probably damaging Het
Itpkc C A 7: 26,927,702 (GRCm39) A71S probably benign Het
Kcnk10 G A 12: 98,485,002 (GRCm39) R45* probably null Het
Krcc1 A G 6: 71,261,198 (GRCm39) S77G probably benign Het
Lelp1 G A 3: 92,042,821 (GRCm39) T76I unknown Het
Lifr A T 15: 7,208,421 (GRCm39) I600F possibly damaging Het
Lrrk1 T A 7: 65,937,191 (GRCm39) D987V possibly damaging Het
Muc16 C T 9: 18,548,594 (GRCm39) D5900N probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo9a A G 9: 59,778,098 (GRCm39) I1285V probably benign Het
Ndel1 T C 11: 68,713,474 (GRCm39) D321G possibly damaging Het
Nlrp4b T C 7: 10,449,144 (GRCm39) V449A probably damaging Het
Or10q12 A G 19: 13,746,525 (GRCm39) E273G probably benign Het
Or2r11 T C 6: 42,437,488 (GRCm39) N155S possibly damaging Het
Or2y1c T A 11: 49,361,261 (GRCm39) Y94* probably null Het
Or51k1 A T 7: 103,661,489 (GRCm39) L140Q probably benign Het
Or5k3 A C 16: 58,969,279 (GRCm39) D22A probably benign Het
Osbpl1a G A 18: 12,974,310 (GRCm39) R459* probably null Het
Pabpc1l A C 2: 163,884,399 (GRCm39) T379P probably damaging Het
Pde2a A T 7: 101,071,175 (GRCm39) Q15L probably benign Het
Pdk1 A G 2: 71,726,085 (GRCm39) N331S probably benign Het
Pfdn1 A T 18: 36,584,519 (GRCm39) probably null Het
Pnliprp1 T A 19: 58,717,582 (GRCm39) L9H probably damaging Het
Prl7a2 A T 13: 27,843,076 (GRCm39) D242E possibly damaging Het
Prmt9 T A 8: 78,294,880 (GRCm39) I408N possibly damaging Het
Pstpip1 A T 9: 56,035,934 (GRCm39) D393V probably damaging Het
Rab5b A G 10: 128,519,062 (GRCm39) probably null Het
Rap1gap2 G A 11: 74,283,945 (GRCm39) R618C probably damaging Het
Rin1 A G 19: 5,100,801 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sdk1 A G 5: 142,067,471 (GRCm39) T1124A probably damaging Het
Sirpb1c T A 3: 15,892,941 (GRCm39) T88S possibly damaging Het
Slc35f6 T A 5: 30,814,121 (GRCm39) I189N probably damaging Het
Slc49a3 T A 5: 108,596,581 (GRCm39) probably null Het
Spata31d1e T A 13: 59,889,997 (GRCm39) R608* probably null Het
Spsb2 A T 6: 124,787,244 (GRCm39) Q226L probably benign Het
Stab2 T C 10: 86,741,456 (GRCm39) D1221G possibly damaging Het
Sugp1 G A 8: 70,522,800 (GRCm39) R500H probably benign Het
Syne1 A G 10: 5,082,078 (GRCm39) Y849H probably damaging Het
Tbck T A 3: 132,428,092 (GRCm39) I249N possibly damaging Het
Tdrd6 A C 17: 43,935,095 (GRCm39) F1984L probably benign Het
Tnxb T A 17: 34,890,314 (GRCm39) V219E unknown Het
Tpst1 T A 5: 130,143,344 (GRCm39) V294D probably damaging Het
Treml1 A G 17: 48,667,247 (GRCm39) Q44R probably damaging Het
Trrap G A 5: 144,733,945 (GRCm39) A933T probably benign Het
Vars2 A G 17: 35,969,142 (GRCm39) L853P probably damaging Het
Vmn1r10 A T 6: 57,090,615 (GRCm39) N69I possibly damaging Het
Vmn1r179 T A 7: 23,627,819 (GRCm39) Y3* probably null Het
Vmn2r38 T A 7: 9,093,728 (GRCm39) Y498F probably benign Het
Zc3h11a T C 1: 133,566,655 (GRCm39) T179A probably damaging Het
Zmym2 A G 14: 57,140,169 (GRCm39) T3A probably benign 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
R7098:Psme4 UTSW 11 30,800,661 (GRCm39) missense probably damaging 0.99
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'- CATAGTTCATATTGCCATGGCTTAC -3'
(R):5'- AGCTTTCCGAGTCTTGGTATGAC -3'

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