Incidental Mutation 'R7469:Psme4'
ID 579043
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 045543-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7469 (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 T at 30752837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 175 (T175I)
Ref Sequence ENSEMBL: ENSMUSP00000045460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041231]
AlphaFold Q5SSW2
Predicted Effect probably benign
Transcript: ENSMUST00000041231
AA Change: T175I

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: T175I

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
SMART Domains Protein: ENSMUSP00000119133
Gene: ENSMUSG00000040850
AA Change: T183I

DomainStartEndE-ValueType
low complexity region 131 142 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (77/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,259,014 (GRCm39) L443P probably damaging Het
Abtb2 T C 2: 103,397,292 (GRCm39) V74A probably benign Het
Adam5 A T 8: 25,305,541 (GRCm39) F66I probably benign Het
Aff1 T A 5: 103,981,413 (GRCm39) D517E probably benign Het
Agbl3 A G 6: 34,791,349 (GRCm39) K559R probably damaging Het
Aldh1l2 A C 10: 83,343,969 (GRCm39) V482G probably damaging Het
Ankra2 C T 13: 98,402,882 (GRCm39) A43V probably benign Het
Ankrd50 C A 3: 38,508,342 (GRCm39) V419F probably damaging Het
Arhgef16 G A 4: 154,375,763 (GRCm39) T77M probably damaging Het
Best3 T C 10: 116,840,290 (GRCm39) V240A probably damaging Het
Btbd7 T C 12: 102,779,027 (GRCm39) Y413C probably damaging Het
Bzw2 A T 12: 36,157,550 (GRCm39) V305E probably damaging Het
Cacng8 G A 7: 3,463,621 (GRCm39) A258T possibly damaging Het
Cfap157 T C 2: 32,670,696 (GRCm39) Y184C probably damaging Het
Chmp3 T A 6: 71,556,652 (GRCm39) V184E possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctdspl2 A T 2: 121,837,362 (GRCm39) E376D possibly damaging Het
Cyfip1 A G 7: 55,527,468 (GRCm39) D200G possibly damaging Het
Cylc2 T A 4: 51,227,970 (GRCm39) probably null Het
Cyp2c66 T A 19: 39,172,307 (GRCm39) F407L probably damaging Het
Dcp2 T C 18: 44,529,019 (GRCm39) F45L probably damaging Het
Dhx34 C T 7: 15,950,364 (GRCm39) R268H probably benign Het
Dnajc7 A T 11: 100,482,377 (GRCm39) M205K probably benign Het
Dzip3 C T 16: 48,765,242 (GRCm39) V491M probably benign Het
Farp1 T C 14: 121,512,833 (GRCm39) L777P probably damaging Het
Fchsd2 T G 7: 100,927,863 (GRCm39) probably null Het
Fer1l6 A T 15: 58,462,419 (GRCm39) probably null Het
Fhip1a T C 3: 85,580,069 (GRCm39) D712G probably benign Het
Fitm2 A G 2: 163,311,742 (GRCm39) F157S probably damaging Het
Flt1 G T 5: 147,540,379 (GRCm39) A770E probably damaging Het
Flt3 T A 5: 147,268,084 (GRCm39) E967V probably benign Het
Foxc1 G C 13: 31,992,361 (GRCm39) A391P unknown Het
Foxc1 C T 13: 31,992,362 (GRCm39) A391V unknown Het
Gimap6 T A 6: 48,679,392 (GRCm39) T215S probably benign Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Itpr3 T C 17: 27,340,028 (GRCm39) S2636P possibly damaging Het
Lsg1 A G 16: 30,380,635 (GRCm39) Y601H probably benign Het
Map4 G T 9: 109,856,865 (GRCm39) probably null Het
Mga T C 2: 119,733,527 (GRCm39) M125T probably damaging Het
Mxi1 A G 19: 53,360,091 (GRCm39) D271G probably damaging Het
Ndst3 T A 3: 123,465,310 (GRCm39) T221S possibly damaging Het
Neto1 T A 18: 86,516,813 (GRCm39) S377T probably benign Het
Nkx6-2 T C 7: 139,161,555 (GRCm39) E210G probably damaging Het
Nos2 G T 11: 78,843,797 (GRCm39) V915F possibly damaging Het
Nrros G A 16: 31,963,030 (GRCm39) A329V probably benign Het
Numb T C 12: 83,850,578 (GRCm39) K211E probably benign Het
Nup210 T A 6: 90,995,874 (GRCm39) I1671F probably benign Het
Or12j3 G A 7: 139,953,050 (GRCm39) L158F possibly damaging Het
Or4c106 T A 2: 88,682,847 (GRCm39) D184E probably benign Het
Or4c31 T A 2: 88,291,691 (GRCm39) H2Q probably benign Het
Pcdh15 A T 10: 74,481,812 (GRCm39) M386L probably benign Het
Pcdhb3 C A 18: 37,434,388 (GRCm39) T118K probably benign Het
Pcdhb8 A T 18: 37,489,011 (GRCm39) I230F probably damaging Het
Peli2 G A 14: 48,488,015 (GRCm39) V120I probably benign Het
Pramel15 T A 4: 144,099,673 (GRCm39) Q364L probably damaging Het
Pramel7 T A 2: 87,321,748 (GRCm39) M96L probably benign Het
Prex2 T A 1: 11,355,293 (GRCm39) S1531R probably damaging Het
Prpf31 A G 7: 3,636,392 (GRCm39) T138A possibly damaging Het
Rasgrf2 A G 13: 92,165,530 (GRCm39) probably null Het
Rps19 T A 7: 24,589,190 (GRCm39) *146K probably null Het
Rsu1 T C 2: 13,082,371 (GRCm39) N260S probably benign Het
Serpina3k T C 12: 104,311,594 (GRCm39) C391R not run Het
Sipa1l1 T G 12: 82,467,438 (GRCm39) probably null Het
Snd1 T A 6: 28,626,126 (GRCm39) Y394N probably damaging Het
Spaca4 A T 7: 45,374,831 (GRCm39) V57E probably damaging Het
Spata31d1b A G 13: 59,863,278 (GRCm39) Y142C probably benign Het
Sptbn2 A G 19: 4,795,146 (GRCm39) K1535E probably benign Het
Srcin1 A G 11: 97,425,435 (GRCm39) S541P probably damaging Het
Tc2n A T 12: 101,631,934 (GRCm39) F308I probably damaging Het
Tdrd5 T C 1: 156,090,475 (GRCm39) D857G probably benign Het
Timm22 A G 11: 76,298,134 (GRCm39) D35G probably benign Het
Tram1l1 C A 3: 124,114,889 (GRCm39) H16Q probably benign Het
Uggt1 T C 1: 36,190,814 (GRCm39) Y1382C probably damaging Het
Usp32 G T 11: 84,879,379 (GRCm39) D1443E possibly damaging Het
Uty A T Y: 1,131,072 (GRCm39) C1046S possibly damaging Het
Wdr31 T A 4: 62,375,768 (GRCm39) Q230L probably damaging Het
Wnt8b C A 19: 44,500,001 (GRCm39) T196K possibly damaging Het
Xpo4 A T 14: 57,835,436 (GRCm39) H628Q probably benign Het
Zfp780b C T 7: 27,663,382 (GRCm39) S391N 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
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
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'- TTCTGAAACCTTAACACCCCTG -3'
(R):5'- ACGAACTGGGAACACTGTTG -3'

Sequencing Primer
(F):5'- ATTCTTTAGAGTTTTCAGCCATTGG -3'
(R):5'- AACACTGTTGGGCTCAATGC -3'
Posted On 2019-10-07