Incidental Mutation 'IGL02444:Usp31'
ID 293512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp31
Ensembl Gene ENSMUSG00000063317
Gene Name ubiquitin specific peptidase 31
Synonyms 6330567E21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL02444
Quality Score
Status
Chromosome 7
Chromosomal Location 121241244-121306476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121278718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 216 (Y216H)
Ref Sequence ENSEMBL: ENSMUSP00000040037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046929]
AlphaFold E9Q6Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000046929
AA Change: Y216H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: Y216H

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 29 58 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 90 120 N/A INTRINSIC
Pfam:UCH 122 755 2.5e-64 PFAM
Pfam:UCH_1 562 737 1.3e-12 PFAM
low complexity region 763 777 N/A INTRINSIC
low complexity region 792 811 N/A INTRINSIC
low complexity region 831 847 N/A INTRINSIC
low complexity region 869 881 N/A INTRINSIC
low complexity region 985 996 N/A INTRINSIC
low complexity region 1009 1030 N/A INTRINSIC
low complexity region 1044 1060 N/A INTRINSIC
low complexity region 1072 1127 N/A INTRINSIC
low complexity region 1161 1173 N/A INTRINSIC
low complexity region 1192 1204 N/A INTRINSIC
low complexity region 1245 1258 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,022,710 (GRCm39) I260T possibly damaging Het
Arhgap9 T A 10: 127,163,816 (GRCm39) V484D probably damaging Het
Asph A G 4: 9,542,319 (GRCm39) probably benign Het
Bbs9 T C 9: 22,555,083 (GRCm39) S457P probably damaging Het
Bckdk A G 7: 127,506,618 (GRCm39) T38A probably damaging Het
Cast G A 13: 74,887,972 (GRCm39) T240I probably damaging Het
Cdc27 T C 11: 104,413,542 (GRCm39) probably benign Het
Cdon T C 9: 35,384,744 (GRCm39) S677P probably benign Het
Cfap161 T C 7: 83,425,353 (GRCm39) E246G probably damaging Het
Dnah11 G A 12: 117,939,608 (GRCm39) probably benign Het
Dnm3 C T 1: 161,838,444 (GRCm39) V835I possibly damaging Het
Eif3a T C 19: 60,762,045 (GRCm39) H510R possibly damaging Het
Fbxw2 G T 2: 34,695,793 (GRCm39) T367K probably benign Het
Ghsr T C 3: 27,426,189 (GRCm39) S82P probably benign Het
Gm4353 C T 7: 115,682,679 (GRCm39) V301I probably benign Het
Golgb1 T C 16: 36,728,178 (GRCm39) probably benign Het
Gria2 T A 3: 80,609,860 (GRCm39) M650L possibly damaging Het
Herc4 T C 10: 63,142,212 (GRCm39) V671A probably benign Het
Iqcb1 T A 16: 36,652,273 (GRCm39) Y61* probably null Het
Irs2 C T 8: 11,056,306 (GRCm39) G709S probably benign Het
Itpripl1 T G 2: 126,983,621 (GRCm39) H167P possibly damaging Het
Kcnn3 T C 3: 89,559,359 (GRCm39) V543A possibly damaging Het
Klf10 T A 15: 38,298,068 (GRCm39) K43M probably damaging Het
Lcor C T 19: 41,547,450 (GRCm39) R345C probably damaging Het
Lmntd2 A G 7: 140,791,832 (GRCm39) S304P probably damaging Het
Lpar3 T C 3: 145,946,949 (GRCm39) I209T probably damaging Het
Map3k13 T A 16: 21,732,982 (GRCm39) M528K probably benign Het
Me1 A T 9: 86,464,967 (GRCm39) probably benign Het
Nedd4l T G 18: 65,337,028 (GRCm39) probably benign Het
Oas1d T A 5: 121,058,071 (GRCm39) F338L probably benign Het
Or1b1 G T 2: 36,994,786 (GRCm39) P292Q probably damaging Het
Or2c1 T C 16: 3,657,551 (GRCm39) F238S probably damaging Het
Pcdhb5 T C 18: 37,454,103 (GRCm39) V161A probably benign Het
Prdx3 A T 19: 60,859,899 (GRCm39) F91L possibly damaging Het
Rab25 T C 3: 88,450,020 (GRCm39) T114A probably benign Het
Rasal2 T C 1: 157,126,765 (GRCm39) E73G probably benign Het
Slco4c1 A G 1: 96,772,234 (GRCm39) S252P probably damaging Het
Srgap2 A C 1: 131,252,891 (GRCm39) probably null Het
Synpo A G 18: 60,735,502 (GRCm39) S576P probably damaging Het
Tktl2 G T 8: 66,966,013 (GRCm39) A524S possibly damaging Het
Tln2 A T 9: 67,165,874 (GRCm39) probably benign Het
Tmem52 G A 4: 155,554,850 (GRCm39) D158N probably damaging Het
Tyw3 T A 3: 154,302,626 (GRCm39) Q36L probably damaging Het
Usp10 A T 8: 120,675,432 (GRCm39) I483F possibly damaging Het
Vmn1r181 T C 7: 23,683,948 (GRCm39) S138P probably damaging Het
Vmn2r42 G T 7: 8,187,312 (GRCm39) A770E probably damaging Het
Zfp292 A C 4: 34,808,810 (GRCm39) S1411R possibly damaging Het
Other mutations in Usp31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Usp31 APN 7 121,305,893 (GRCm39) missense probably damaging 1.00
IGL00421:Usp31 APN 7 121,247,873 (GRCm39) missense probably damaging 0.96
IGL00657:Usp31 APN 7 121,247,454 (GRCm39) missense probably benign 0.00
IGL01917:Usp31 APN 7 121,278,708 (GRCm39) missense probably benign 0.26
IGL03090:Usp31 APN 7 121,278,753 (GRCm39) splice site probably benign
R0334:Usp31 UTSW 7 121,258,185 (GRCm39) missense probably damaging 0.99
R0945:Usp31 UTSW 7 121,269,476 (GRCm39) missense probably damaging 1.00
R1326:Usp31 UTSW 7 121,247,525 (GRCm39) missense probably damaging 1.00
R2116:Usp31 UTSW 7 121,247,919 (GRCm39) missense probably benign 0.39
R3113:Usp31 UTSW 7 121,278,736 (GRCm39) missense probably damaging 1.00
R4072:Usp31 UTSW 7 121,267,005 (GRCm39) splice site probably null
R4075:Usp31 UTSW 7 121,267,005 (GRCm39) splice site probably null
R4076:Usp31 UTSW 7 121,267,005 (GRCm39) splice site probably null
R4306:Usp31 UTSW 7 121,306,152 (GRCm39) missense possibly damaging 0.93
R4675:Usp31 UTSW 7 121,306,548 (GRCm39) unclassified probably benign
R4960:Usp31 UTSW 7 121,247,868 (GRCm39) missense probably damaging 0.99
R5368:Usp31 UTSW 7 121,260,588 (GRCm39) missense probably damaging 1.00
R5396:Usp31 UTSW 7 121,267,005 (GRCm39) splice site probably null
R5456:Usp31 UTSW 7 121,269,500 (GRCm39) missense probably damaging 1.00
R5475:Usp31 UTSW 7 121,250,749 (GRCm39) missense probably damaging 1.00
R5497:Usp31 UTSW 7 121,250,824 (GRCm39) missense probably damaging 1.00
R5872:Usp31 UTSW 7 121,248,698 (GRCm39) missense probably benign 0.05
R6301:Usp31 UTSW 7 121,247,499 (GRCm39) missense possibly damaging 0.76
R6688:Usp31 UTSW 7 121,277,553 (GRCm39) missense probably benign 0.01
R6875:Usp31 UTSW 7 121,248,863 (GRCm39) nonsense probably null
R6895:Usp31 UTSW 7 121,252,399 (GRCm39) missense probably benign 0.00
R7570:Usp31 UTSW 7 121,274,186 (GRCm39) missense probably damaging 1.00
R7633:Usp31 UTSW 7 121,258,185 (GRCm39) missense probably damaging 0.99
R7666:Usp31 UTSW 7 121,248,404 (GRCm39) missense possibly damaging 0.68
R7841:Usp31 UTSW 7 121,276,535 (GRCm39) missense probably damaging 0.96
R7841:Usp31 UTSW 7 121,247,679 (GRCm39) missense probably benign 0.00
R8013:Usp31 UTSW 7 121,248,480 (GRCm39) missense probably damaging 0.99
R8014:Usp31 UTSW 7 121,248,480 (GRCm39) missense probably damaging 0.99
R8118:Usp31 UTSW 7 121,276,485 (GRCm39) missense probably damaging 1.00
R8140:Usp31 UTSW 7 121,248,249 (GRCm39) missense possibly damaging 0.79
R9063:Usp31 UTSW 7 121,306,466 (GRCm39) missense probably benign
R9795:Usp31 UTSW 7 121,247,499 (GRCm39) missense probably benign 0.00
X0062:Usp31 UTSW 7 121,250,737 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16