Incidental Mutation 'IGL01373:Usp38'
ID 84092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp38
Ensembl Gene ENSMUSG00000038250
Gene Name ubiquitin specific peptidase 38
Synonyms 4833420O05Rik, 4631402N15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01373
Quality Score
Status
Chromosome 8
Chromosomal Location 81707362-81741557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81716647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 496 (A496S)
Ref Sequence ENSEMBL: ENSMUSP00000039943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042724]
AlphaFold Q8BW70
Predicted Effect possibly damaging
Transcript: ENSMUST00000042724
AA Change: A496S

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: A496S

DomainStartEndE-ValueType
SCOP:d1gw5a_ 1 365 5e-3 SMART
Pfam:UCH 444 946 1.8e-47 PFAM
Pfam:UCH_1 445 921 2.2e-23 PFAM
low complexity region 995 1006 N/A INTRINSIC
low complexity region 1019 1033 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cep72 A G 13: 74,207,578 (GRCm39) S64P probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Usp38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Usp38 APN 8 81,740,469 (GRCm39) missense probably damaging 0.99
IGL02089:Usp38 APN 8 81,712,343 (GRCm39) missense possibly damaging 0.48
IGL02528:Usp38 APN 8 81,719,864 (GRCm39) missense probably damaging 1.00
IGL02538:Usp38 APN 8 81,712,187 (GRCm39) missense probably damaging 1.00
IGL02615:Usp38 APN 8 81,711,780 (GRCm39) missense probably benign 0.00
IGL03340:Usp38 APN 8 81,738,905 (GRCm39) missense probably damaging 1.00
P0033:Usp38 UTSW 8 81,708,525 (GRCm39) missense probably benign 0.12
R0313:Usp38 UTSW 8 81,711,071 (GRCm39) nonsense probably null
R0331:Usp38 UTSW 8 81,722,469 (GRCm39) missense probably benign 0.00
R0497:Usp38 UTSW 8 81,711,053 (GRCm39) splice site probably benign
R0594:Usp38 UTSW 8 81,731,995 (GRCm39) missense probably damaging 0.97
R0632:Usp38 UTSW 8 81,740,779 (GRCm39) missense probably benign 0.03
R1355:Usp38 UTSW 8 81,711,662 (GRCm39) missense possibly damaging 0.61
R1500:Usp38 UTSW 8 81,722,399 (GRCm39) missense probably damaging 1.00
R1566:Usp38 UTSW 8 81,711,432 (GRCm39) missense probably benign 0.00
R1880:Usp38 UTSW 8 81,727,695 (GRCm39) missense probably damaging 1.00
R4161:Usp38 UTSW 8 81,719,967 (GRCm39) missense probably damaging 1.00
R4176:Usp38 UTSW 8 81,719,928 (GRCm39) missense probably benign 0.33
R4882:Usp38 UTSW 8 81,708,606 (GRCm39) nonsense probably null
R5344:Usp38 UTSW 8 81,712,392 (GRCm39) missense possibly damaging 0.76
R5481:Usp38 UTSW 8 81,719,952 (GRCm39) missense possibly damaging 0.89
R5564:Usp38 UTSW 8 81,711,717 (GRCm39) missense probably damaging 0.96
R5897:Usp38 UTSW 8 81,732,082 (GRCm39) missense probably benign 0.03
R6111:Usp38 UTSW 8 81,740,551 (GRCm39) missense probably damaging 1.00
R6746:Usp38 UTSW 8 81,740,920 (GRCm39) missense possibly damaging 0.80
R6912:Usp38 UTSW 8 81,719,958 (GRCm39) missense probably damaging 1.00
R7051:Usp38 UTSW 8 81,727,750 (GRCm39) missense possibly damaging 0.50
R7483:Usp38 UTSW 8 81,741,190 (GRCm39) start gained probably benign
R7525:Usp38 UTSW 8 81,740,875 (GRCm39) missense probably damaging 1.00
R7565:Usp38 UTSW 8 81,708,601 (GRCm39) missense probably damaging 1.00
R7915:Usp38 UTSW 8 81,727,712 (GRCm39) missense probably damaging 1.00
R7934:Usp38 UTSW 8 81,711,077 (GRCm39) missense probably damaging 1.00
R7988:Usp38 UTSW 8 81,740,945 (GRCm39) missense probably benign 0.01
R8062:Usp38 UTSW 8 81,711,218 (GRCm39) missense probably damaging 1.00
R8340:Usp38 UTSW 8 81,712,031 (GRCm39) missense probably benign
R8514:Usp38 UTSW 8 81,712,346 (GRCm39) missense probably benign 0.01
R8919:Usp38 UTSW 8 81,708,479 (GRCm39) missense probably damaging 1.00
R9119:Usp38 UTSW 8 81,711,228 (GRCm39) missense probably damaging 1.00
R9664:Usp38 UTSW 8 81,741,164 (GRCm39) start gained probably benign
RF016:Usp38 UTSW 8 81,740,522 (GRCm39) missense probably benign 0.01
Posted On 2013-11-11