Incidental Mutation 'R7410:Psme4'
ID 575016
Institutional Source Beutler Lab
Gene Symbol Psme4
Ensembl Gene ENSMUSG00000040850
Gene Name proteasome (prosome, macropain) activator subunit 4
Synonyms
MMRRC Submission 045491-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7410 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 30721726-30830361 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 30765279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 549 (Q549*)
Ref Sequence ENSEMBL: ENSMUSP00000045460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041231]
AlphaFold Q5SSW2
Predicted Effect probably null
Transcript: ENSMUST00000041231
AA Change: Q549*
SMART Domains Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: Q549*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,551 (GRCm39) S3P unknown Het
Adgrv1 A T 13: 81,711,738 (GRCm39) D1079E probably benign Het
Agbl5 A T 5: 31,048,032 (GRCm39) Y102F possibly damaging Het
Ankfy1 T C 11: 72,652,330 (GRCm39) L1094S probably damaging Het
Ankrd42 A T 7: 92,259,762 (GRCm39) V337E possibly damaging Het
Axl A G 7: 25,458,208 (GRCm39) L849P probably benign Het
Bmpr2 T C 1: 59,907,652 (GRCm39) I915T probably benign Het
Cables1 T A 18: 12,074,282 (GRCm39) F494L probably benign Het
Cacna1e A C 1: 154,347,980 (GRCm39) V927G probably benign Het
Cavin1 A T 11: 100,849,670 (GRCm39) V320E probably damaging Het
Cemip T G 7: 83,602,042 (GRCm39) S916R probably damaging Het
Cep57 G A 9: 13,729,980 (GRCm39) probably benign Het
Ces1d T C 8: 93,919,433 (GRCm39) N120D probably damaging Het
Cfap44 A T 16: 44,288,776 (GRCm39) S1509C probably damaging Het
Chga A G 12: 102,528,866 (GRCm39) D281G probably benign Het
Clstn2 A G 9: 97,423,920 (GRCm39) F282L probably benign Het
Cnot1 A T 8: 96,459,787 (GRCm39) V1855E possibly damaging Het
Cnr1 T A 4: 33,944,119 (GRCm39) V169D probably damaging Het
Cpd T A 11: 76,673,134 (GRCm39) H1337L probably damaging Het
Crabp2 T A 3: 87,859,585 (GRCm39) D78E probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp2ab1 G A 16: 20,135,475 (GRCm39) A9V probably benign Het
Cyp3a41b T C 5: 145,514,967 (GRCm39) D86G probably damaging Het
Dner T A 1: 84,563,332 (GRCm39) D96V probably damaging Het
Duox1 C A 2: 122,176,874 (GRCm39) T1465N probably damaging Het
Ehd3 T A 17: 74,112,428 (GRCm39) V64E probably benign Het
Ehmt1 A G 2: 24,738,080 (GRCm39) V508A probably benign Het
Ephb3 G A 16: 21,040,158 (GRCm39) V761I possibly damaging Het
Fam161b T C 12: 84,404,575 (GRCm39) Q35R probably benign Het
Fam186a T A 15: 99,844,826 (GRCm39) K473* probably null Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Fkbp15 C A 4: 62,258,536 (GRCm39) D144Y probably damaging Het
Galt T C 4: 41,757,707 (GRCm39) I259T possibly damaging Het
Gbp11 G A 5: 105,491,774 (GRCm39) P8S probably damaging Het
Gfap A T 11: 102,783,963 (GRCm39) M339K probably damaging Het
Gm14443 C T 2: 175,011,069 (GRCm39) R459Q possibly damaging Het
Grip1 A G 10: 119,855,925 (GRCm39) N632S probably benign Het
H4c18 G A 13: 22,016,211 (GRCm39) R40W probably damaging Het
Hcar1 T G 5: 124,017,161 (GRCm39) I177L possibly damaging Het
Ighv1-37 A G 12: 114,860,099 (GRCm39) V37A probably damaging Het
Ilf3 T A 9: 21,311,100 (GRCm39) F657L unknown Het
Ints2 T G 11: 86,124,052 (GRCm39) T579P probably benign Het
Iqgap1 G T 7: 80,372,778 (GRCm39) Y1520* probably null Het
Kdm4a T C 4: 118,001,115 (GRCm39) H884R possibly damaging Het
Krtap19-1 A T 16: 88,666,132 (GRCm39) Y52N unknown Het
Lama5 A T 2: 179,844,183 (GRCm39) probably null Het
Lrrc72 T C 12: 36,272,803 (GRCm39) N89D probably damaging Het
Med13l A G 5: 118,698,897 (GRCm39) D16G possibly damaging Het
Mefv A G 16: 3,533,545 (GRCm39) L242P probably damaging Het
Mob3c T C 4: 115,688,784 (GRCm39) Y106H probably damaging Het
Nlrp1a A G 11: 71,014,683 (GRCm39) I189T probably damaging Het
Nudt7 T C 8: 114,860,559 (GRCm39) probably benign Het
Or13p10 T C 4: 118,523,629 (GRCm39) L305P probably benign Het
Or4f7 T A 2: 111,644,271 (GRCm39) I267L probably benign Het
Pappa A G 4: 65,253,956 (GRCm39) T1537A probably damaging Het
Pik3r4 T A 9: 105,527,790 (GRCm39) V381E probably damaging Het
Pkd1 T A 17: 24,794,855 (GRCm39) Y2181N probably damaging Het
Pmel G T 10: 128,552,353 (GRCm39) V396F probably benign Het
Prdm9 A G 17: 15,765,259 (GRCm39) I507T possibly damaging Het
Ptprg T A 14: 11,962,657 (GRCm38) W152R probably damaging Het
Ptprm A C 17: 67,000,561 (GRCm39) V1141G probably damaging Het
Rapgef5 G A 12: 117,685,063 (GRCm39) V505M probably damaging Het
Rnf213 T A 11: 119,325,877 (GRCm39) M1558K Het
Slc35a1 A G 4: 34,675,034 (GRCm39) V168A probably benign Het
Srebf1 T C 11: 60,096,693 (GRCm39) T347A probably benign Het
Stard9 T A 2: 120,531,978 (GRCm39) V2745D probably benign Het
Taar7e A T 10: 23,914,424 (GRCm39) T305S probably benign Het
Tie1 T C 4: 118,337,074 (GRCm39) S551G probably benign Het
Tmc5 T A 7: 118,222,820 (GRCm39) Y173* probably null Het
Tns2 T A 15: 102,018,961 (GRCm39) V384D probably damaging Het
Tubgcp4 T A 2: 121,014,890 (GRCm39) Y267N probably damaging Het
Vmn1r53 A G 6: 90,200,700 (GRCm39) V208A probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdfy4 T C 14: 32,696,191 (GRCm39) D2784G Het
Zfp712 A C 13: 67,189,400 (GRCm39) S376A probably benign Het
Znrf3 C T 11: 5,238,955 (GRCm39) C232Y unknown 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
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'- GGTGTTTATGACAGTATCCAATGC -3'
(R):5'- TGACAGCCAGGTAAACCTCTATTC -3'

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