Incidental Mutation 'R7431:Usp39'
ID 576464
Institutional Source Beutler Lab
Gene Symbol Usp39
Ensembl Gene ENSMUSG00000056305
Gene Name ubiquitin specific peptidase 39
Synonyms SAD1, CGI-21, D6Wsu157e
MMRRC Submission 045509-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7431 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 72295749-72322190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 72313251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 313 (T313N)
Ref Sequence ENSEMBL: ENSMUSP00000064515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070345]
AlphaFold Q3TIX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000070345
AA Change: T313N

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305
AA Change: T313N

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 48 73 N/A INTRINSIC
ZnF_C2H2 133 154 5.07e0 SMART
Pfam:UCH 223 551 3.9e-45 PFAM
Pfam:UCH_1 224 533 1.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206262
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 CA C 11: 110,018,252 (GRCm39) probably null Het
Abcf3 G T 16: 20,377,539 (GRCm39) R510L probably benign Het
Abcg4 T A 9: 44,185,997 (GRCm39) I625F possibly damaging Het
Adam22 A T 5: 8,142,818 (GRCm39) S806T probably damaging Het
Adcy4 T C 14: 56,010,129 (GRCm39) I718V probably benign Het
Adgb A T 10: 10,267,699 (GRCm39) probably null Het
Aldoart1 T A 4: 72,769,678 (GRCm39) K377* probably null Het
Apc2 T A 10: 80,138,017 (GRCm39) V100E possibly damaging Het
Asxl3 T G 18: 22,650,010 (GRCm39) D666E probably damaging Het
Atg4c A T 4: 99,109,632 (GRCm39) I200F possibly damaging Het
Atp1a4 A G 1: 172,078,474 (GRCm39) F255L probably benign Het
Bod1l A C 5: 41,970,463 (GRCm39) probably null Het
Cacna2d4 A T 6: 119,221,237 (GRCm39) T250S probably damaging Het
Ccdc202 A G 14: 96,119,273 (GRCm39) H10R probably benign Het
Ccng1 G A 11: 40,644,745 (GRCm39) R51W possibly damaging Het
Chd6 T C 2: 160,868,248 (GRCm39) E366G possibly damaging Het
Clca4b A T 3: 144,616,894 (GRCm39) S919T probably benign Het
Col5a3 T C 9: 20,682,131 (GRCm39) *1740W probably null Het
Col6a5 A T 9: 105,805,468 (GRCm39) I1146K unknown Het
Cpxm1 T C 2: 130,235,966 (GRCm39) T399A probably benign Het
Cpz T C 5: 35,668,486 (GRCm39) T375A probably benign Het
Cyp2b13 T A 7: 25,760,976 (GRCm39) V11D probably damaging Het
Cyp39a1 A G 17: 43,993,906 (GRCm39) T189A probably benign Het
Desi2 C T 1: 178,084,007 (GRCm39) Q52* probably null Het
Dhx15 A G 5: 52,319,953 (GRCm39) V418A probably damaging Het
Dnah3 T A 7: 119,650,967 (GRCm39) M978L probably damaging Het
Dpagt1 T A 9: 44,237,384 (GRCm39) C17* probably null Het
Dph5 A T 3: 115,686,381 (GRCm39) K52N possibly damaging Het
Dpp4 G T 2: 62,182,582 (GRCm39) N566K probably benign Het
Elavl4 T C 4: 110,083,830 (GRCm39) Y94C probably damaging Het
Fat2 G A 11: 55,199,927 (GRCm39) T1049I probably damaging Het
Fat4 T A 3: 39,063,306 (GRCm39) Y4421N possibly damaging Het
Fcrl2 C A 3: 87,166,233 (GRCm39) A181S probably damaging Het
Garre1 T C 7: 33,984,219 (GRCm39) I135V possibly damaging Het
Glg1 G T 8: 111,887,386 (GRCm39) N456K unknown Het
Gm10228 A G 16: 88,838,101 (GRCm39) S68P unknown Het
Golga4 G A 9: 118,388,799 (GRCm39) E1974K probably damaging Het
Heatr9 G T 11: 83,410,094 (GRCm39) P49Q probably damaging Het
Hmgxb3 A T 18: 61,280,517 (GRCm39) V662D probably damaging Het
Hs3st4 T C 7: 123,582,513 (GRCm39) L37P probably damaging Het
Ifi205 A T 1: 173,855,943 (GRCm39) M29K probably benign Het
Igkv1-35 C T 6: 69,987,988 (GRCm39) V103M probably damaging Het
Klf13 T A 7: 63,541,504 (GRCm39) K208* probably null Het
Klhl36 A G 8: 120,597,121 (GRCm39) N274S probably benign Het
Mosmo T A 7: 120,329,873 (GRCm39) L165I probably benign Het
Mtcl1 G A 17: 66,649,901 (GRCm39) Q1855* probably null Het
Muc16 A G 9: 18,519,289 (GRCm39) V208A Het
Nin T G 12: 70,124,997 (GRCm39) R108S Het
Odad1 T G 7: 45,578,670 (GRCm39) L81R probably damaging Het
Or13c7d T C 4: 43,770,882 (GRCm39) N43S probably damaging Het
Polr1a G A 6: 71,903,643 (GRCm39) V319I probably benign Het
Pramel7 A G 2: 87,320,282 (GRCm39) V337A possibly damaging Het
Prkar2b A T 12: 32,013,150 (GRCm39) probably null Het
R3hdm2 T A 10: 127,294,016 (GRCm39) M170K probably benign Het
Rbm26 A G 14: 105,354,528 (GRCm39) I919T possibly damaging Het
Rimkla A G 4: 119,335,008 (GRCm39) M125T probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Sbf2 G T 7: 109,950,957 (GRCm39) D1163E probably damaging Het
Scgb2b24 T C 7: 33,438,674 (GRCm39) I13V probably benign Het
Scin G A 12: 40,183,921 (GRCm39) H63Y probably damaging Het
Sele A G 1: 163,879,189 (GRCm39) T275A probably damaging Het
Slc22a15 T A 3: 101,805,256 (GRCm39) T144S probably benign Het
Slc8a1 T A 17: 81,749,092 (GRCm39) K650I probably benign Het
Slc9c1 G T 16: 45,413,847 (GRCm39) V992F probably damaging Het
Spag16 A T 1: 69,963,031 (GRCm39) T393S unknown Het
Taf15 G A 11: 83,395,779 (GRCm39) D495N unknown Het
Tas2r144 T A 6: 42,192,908 (GRCm39) I216N probably damaging Het
Tbccd1 G T 16: 22,644,563 (GRCm39) P271Q probably benign Het
Tcf4 C A 18: 69,480,249 (GRCm39) probably null Het
Thap4 A T 1: 93,678,223 (GRCm39) S188T probably benign Het
Trank1 T C 9: 111,191,470 (GRCm39) V493A probably benign Het
Trip11 A G 12: 101,850,278 (GRCm39) V1262A possibly damaging Het
Tspan2 T A 3: 102,657,107 (GRCm39) W35R probably damaging Het
Vmn2r83 T A 10: 79,327,306 (GRCm39) L638Q probably damaging Het
Vps29 T C 5: 122,492,541 (GRCm39) V2A probably benign Het
Wrap53 A G 11: 69,469,313 (GRCm39) F148L possibly damaging Het
Znfx1 T C 2: 166,897,712 (GRCm39) Y404C probably damaging Het
Zrsr2-ps1 A G 11: 22,923,580 (GRCm39) E118G probably benign Het
Other mutations in Usp39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Usp39 APN 6 72,305,607 (GRCm39) missense probably damaging 0.99
IGL01065:Usp39 APN 6 72,316,958 (GRCm39) missense probably damaging 1.00
IGL01669:Usp39 APN 6 72,315,476 (GRCm39) missense probably damaging 0.99
IGL03089:Usp39 APN 6 72,305,622 (GRCm39) missense probably damaging 1.00
IGL03397:Usp39 APN 6 72,313,296 (GRCm39) missense possibly damaging 0.53
R0561:Usp39 UTSW 6 72,313,368 (GRCm39) missense probably damaging 1.00
R3236:Usp39 UTSW 6 72,315,372 (GRCm39) splice site probably benign
R3552:Usp39 UTSW 6 72,314,815 (GRCm39) missense possibly damaging 0.63
R4010:Usp39 UTSW 6 72,313,468 (GRCm39) missense probably benign 0.44
R4854:Usp39 UTSW 6 72,302,665 (GRCm39) missense probably benign 0.29
R5502:Usp39 UTSW 6 72,305,670 (GRCm39) missense probably benign
R6868:Usp39 UTSW 6 72,314,734 (GRCm39) missense possibly damaging 0.93
R6887:Usp39 UTSW 6 72,310,140 (GRCm39) missense probably damaging 1.00
R7313:Usp39 UTSW 6 72,313,413 (GRCm39) missense probably benign 0.00
R7429:Usp39 UTSW 6 72,319,900 (GRCm39) missense probably damaging 1.00
R7430:Usp39 UTSW 6 72,319,900 (GRCm39) missense probably damaging 1.00
R7544:Usp39 UTSW 6 72,319,891 (GRCm39) missense probably damaging 1.00
R7548:Usp39 UTSW 6 72,321,996 (GRCm39) missense possibly damaging 0.93
R7741:Usp39 UTSW 6 72,315,521 (GRCm39) splice site probably benign
R8377:Usp39 UTSW 6 72,305,657 (GRCm39) missense probably benign 0.00
R8405:Usp39 UTSW 6 72,305,521 (GRCm39) missense probably damaging 1.00
R9333:Usp39 UTSW 6 72,314,710 (GRCm39) missense probably benign 0.16
R9496:Usp39 UTSW 6 72,302,759 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTTCTCTGCACAGGACCCAC -3'
(R):5'- TGATCTCCAGGCTCTATCTAATGTC -3'

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