Incidental Mutation 'R0462:Psme4'
ID 41399
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 038662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0462 (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 30798117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1370 (D1370G)
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: D1370G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: D1370G

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A T 11: 101,304,917 (GRCm39) D190E probably damaging Het
Acnat2 A G 4: 49,383,084 (GRCm39) probably null Het
Acot10 T G 15: 20,666,712 (GRCm39) T10P possibly damaging Het
Aldh7a1 T C 18: 56,667,286 (GRCm39) probably null Het
Alkbh7 G A 17: 57,305,443 (GRCm39) V87I probably benign Het
Ano2 A T 6: 125,689,238 (GRCm39) H121L probably benign Het
Apob A T 12: 8,050,896 (GRCm39) Y1040F probably damaging Het
Arhgap25 A T 6: 87,436,942 (GRCm39) V636E possibly damaging Het
Atad2b A T 12: 4,991,973 (GRCm39) T191S possibly damaging Het
Atpsckmt T C 15: 31,617,018 (GRCm39) M161T probably damaging Het
Btbd9 A T 17: 30,749,191 (GRCm39) V41D possibly damaging Het
Bzw2 G A 12: 36,174,023 (GRCm39) R25C probably damaging Het
Carmil1 T C 13: 24,206,494 (GRCm39) S1326G probably benign Het
Cdh18 A G 15: 23,366,971 (GRCm39) R226G probably damaging Het
Cdh3 A G 8: 107,282,012 (GRCm39) N800S possibly damaging Het
Cep152 A T 2: 125,425,854 (GRCm39) V837E possibly damaging Het
Cep85 G A 4: 133,858,732 (GRCm39) T713M possibly damaging Het
Chd7 T C 4: 8,850,821 (GRCm39) Y1736H probably damaging Het
Chst3 T C 10: 60,022,535 (GRCm39) E104G probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cmah T A 13: 24,620,724 (GRCm39) S319R possibly damaging Het
Cnbd1 A G 4: 18,895,044 (GRCm39) F233L probably benign Het
Cpne5 T C 17: 29,395,163 (GRCm39) E251G probably benign Het
Csf2rb2 G A 15: 78,169,373 (GRCm39) P485L probably damaging Het
Dimt1 T C 13: 107,085,264 (GRCm39) M70T possibly damaging Het
Dlk2 A G 17: 46,614,024 (GRCm39) *383W probably null Het
Dnah2 G A 11: 69,350,027 (GRCm39) R2369C probably damaging Het
Dock2 A G 11: 34,218,052 (GRCm39) F1173L possibly damaging Het
Dok7 A G 5: 35,223,806 (GRCm39) H115R possibly damaging Het
Dpy19l1 A G 9: 24,325,645 (GRCm39) I720T probably benign Het
Eps8 A T 6: 137,491,309 (GRCm39) D356E probably benign Het
Exoc1 A G 5: 76,691,464 (GRCm39) N263D probably benign Het
Fbxl3 T C 14: 103,320,322 (GRCm39) D375G probably damaging Het
Fcgbpl1 A T 7: 27,836,765 (GRCm39) D228V probably damaging Het
Flg2 A T 3: 93,108,744 (GRCm39) E257D probably benign Het
Fstl4 A G 11: 53,077,229 (GRCm39) D662G probably benign Het
Gbp10 G T 5: 105,366,390 (GRCm39) Q505K possibly damaging Het
Gemin2 C T 12: 59,060,305 (GRCm39) P15S probably damaging Het
Grhl2 A G 15: 37,344,919 (GRCm39) M514V probably benign Het
Hgs A G 11: 120,369,970 (GRCm39) N413D possibly damaging Het
Il12rb2 T C 6: 67,280,594 (GRCm39) S538G possibly damaging Het
Kdm5a A G 6: 120,379,561 (GRCm39) D623G probably damaging Het
Kifbp A T 10: 62,395,235 (GRCm39) I469N probably damaging Het
Matk G T 10: 81,095,527 (GRCm39) V116F probably damaging Het
Mcm3 T C 1: 20,875,556 (GRCm39) T694A probably benign Het
Mctp1 C A 13: 76,949,520 (GRCm39) H260Q probably damaging Het
Mios T A 6: 8,215,743 (GRCm39) I313K probably benign Het
Muc4 T A 16: 32,582,910 (GRCm39) Y2562N possibly damaging Het
Naip5 T A 13: 100,358,240 (GRCm39) I999F probably damaging Het
Or11h4 T A 14: 50,974,554 (GRCm39) I22L probably benign Het
Or14j7 A T 17: 38,234,667 (GRCm39) D70V probably damaging Het
Or1x6 A G 11: 50,939,336 (GRCm39) Y134C probably damaging Het
Or52a5 A T 7: 103,426,770 (GRCm39) S261T probably benign Het
Or7g12 A T 9: 18,900,198 (GRCm39) I305F probably benign Het
Or8g52 T A 9: 39,630,706 (GRCm39) F61Y probably benign Het
Pafah1b1 A G 11: 74,568,541 (GRCm39) V396A probably benign Het
Pard6b T A 2: 167,929,467 (GRCm39) I91N possibly damaging Het
Pdzd2 T C 15: 12,592,246 (GRCm39) S133G probably damaging Het
Plcg2 T G 8: 118,312,044 (GRCm39) S445R probably benign Het
Plekhd1 G T 12: 80,768,352 (GRCm39) V396L probably damaging Het
Ppp4r2 A G 6: 100,843,518 (GRCm39) D294G possibly damaging Het
Ppwd1 T C 13: 104,359,468 (GRCm39) probably null Het
Prr22 A G 17: 57,077,551 (GRCm39) probably benign Het
Rac3 T A 11: 120,613,684 (GRCm39) V86D probably damaging Het
Rnf207 T C 4: 152,397,829 (GRCm39) S335G possibly damaging Het
Rxfp3 A G 15: 11,037,063 (GRCm39) L103P probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Smpdl3a G T 10: 57,670,827 (GRCm39) C17F probably benign Het
Spaca7b T A 8: 11,711,749 (GRCm39) probably benign Het
Spata31g1 T A 4: 42,973,429 (GRCm39) F921I probably benign Het
Spen A T 4: 141,200,962 (GRCm39) I2555N probably damaging Het
Srpk2 G T 5: 23,723,424 (GRCm39) T564K probably damaging Het
Stard4 C T 18: 33,338,202 (GRCm39) R116H probably damaging Het
Supt7l A T 5: 31,677,640 (GRCm39) S175R probably damaging Het
Sycp1 A T 3: 102,726,422 (GRCm39) Y932N possibly damaging Het
Tas2r122 T C 6: 132,688,141 (GRCm39) M251V probably benign Het
Tbx15 A T 3: 99,223,634 (GRCm39) E274V probably damaging Het
Tex52 A G 6: 128,361,917 (GRCm39) E298G probably benign Het
Tmem101 T C 11: 102,046,693 (GRCm39) M59V probably benign Het
Tmem132b T C 5: 125,862,990 (GRCm39) V665A probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Ush2a A G 1: 188,643,136 (GRCm39) H4166R probably benign Het
Vmn2r101 G T 17: 19,810,431 (GRCm39) V406L probably benign Het
Vrk3 A G 7: 44,413,624 (GRCm39) D166G possibly damaging Het
Washc4 T A 10: 83,392,777 (GRCm39) M259K probably benign Het
Wdr70 T C 15: 8,108,645 (GRCm39) D167G probably benign Het
Zfp1005 A G 2: 150,111,122 (GRCm39) E604G possibly damaging Het
Zfp28 A T 7: 6,395,239 (GRCm39) Q248L possibly damaging Het
Zfp39 A G 11: 58,781,232 (GRCm39) I510T probably benign Het
Zfp710 T A 7: 79,740,089 (GRCm39) *646R probably null Het
Zfp90 C T 8: 107,151,892 (GRCm39) S535L possibly damaging Het
Zfp949 C T 9: 88,450,787 (GRCm39) T119I 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
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
Predicted Primers PCR Primer
(F):5'- AAGTTTAGTCCCCGGCGTTTCTG -3'
(R):5'- CGAGTCTTGGTATGACTTATGTGACCTG -3'

Sequencing Primer
(F):5'- gttcagttcccagcgacc -3'
(R):5'- CCTGGATAAATGATTAACAAAAACCC -3'
Posted On 2013-05-23