Incidental Mutation 'IGL02538:Usp38'
ID297599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp38
Ensembl Gene ENSMUSG00000038250
Gene Nameubiquitin specific peptidase 38
Synonyms4833420O05Rik, 4631402N15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02538
Quality Score
Status
Chromosome8
Chromosomal Location80980733-81014928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 80985558 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 616 (L616H)
Ref Sequence ENSEMBL: ENSMUSP00000039943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042724]
Predicted Effect probably damaging
Transcript: ENSMUST00000042724
AA Change: L616H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: L616H

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,306,605 I171L possibly damaging Het
Amdhd1 C T 10: 93,527,246 V327I probably damaging Het
Ankrd1 T C 19: 36,115,056 H257R probably damaging Het
Ano5 G A 7: 51,583,775 R595H probably damaging Het
Atg2a A G 19: 6,257,628 T1531A probably benign Het
Bsn A G 9: 108,105,236 S1001P unknown Het
Btn1a1 T C 13: 23,459,215 T355A possibly damaging Het
Cd22 G T 7: 30,877,560 N107K probably benign Het
Ceacam10 A G 7: 24,778,483 H141R probably damaging Het
Chil3 T C 3: 106,164,129 D73G probably damaging Het
Cit C T 5: 115,986,989 Q1536* probably null Het
Dmgdh T A 13: 93,708,753 I418K possibly damaging Het
Efcab6 T A 15: 84,054,521 probably benign Het
Eif4g2 T C 7: 111,079,316 I110V probably benign Het
Fam217a T C 13: 34,911,113 Y221C probably damaging Het
Fezf1 T A 6: 23,246,558 K342N probably damaging Het
Git2 A T 5: 114,730,986 probably benign Het
Gm4951 A T 18: 60,245,872 K160* probably null Het
Gm8126 A T 14: 43,259,590 R63W probably benign Het
Ica1l T C 1: 60,010,186 K203E probably benign Het
Inpp5d A G 1: 87,695,366 M393V probably null Het
Kbtbd11 A G 8: 15,028,841 D480G probably damaging Het
Klhl1 T C 14: 96,240,213 N473S probably benign Het
Krt2 A G 15: 101,811,154 S694P unknown Het
Lhfp C T 3: 53,043,311 A2V probably benign Het
Lipk T A 19: 34,046,879 L354Q probably damaging Het
Luzp2 T A 7: 55,211,798 L225* probably null Het
Mknk1 C T 4: 115,860,091 Q58* probably null Het
Mut A T 17: 40,938,619 I162F probably damaging Het
Nol11 T A 11: 107,173,373 M518L probably benign Het
Nubpl T C 12: 52,310,694 probably benign Het
Nup35 T A 2: 80,644,219 S93R possibly damaging Het
Olfr330 T C 11: 58,529,990 probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Pex3 T C 10: 13,535,600 E178G possibly damaging Het
Rad23b C A 4: 55,370,457 P161Q possibly damaging Het
Sipa1l2 A G 8: 125,451,977 S1128P probably damaging Het
Terb2 T C 2: 122,204,808 probably benign Het
Trim72 A G 7: 128,004,770 Y96C probably damaging Het
Tyk2 T C 9: 21,111,043 D830G possibly damaging Het
Uri1 A G 7: 37,965,491 S259P probably benign Het
Uspl1 T A 5: 149,188,459 C73S probably damaging Het
Wdr7 C A 18: 63,796,235 D1047E probably benign Het
Other mutations in Usp38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Usp38 APN 8 81013840 missense probably damaging 0.99
IGL01373:Usp38 APN 8 80990018 missense possibly damaging 0.80
IGL02089:Usp38 APN 8 80985714 missense possibly damaging 0.48
IGL02528:Usp38 APN 8 80993235 missense probably damaging 1.00
IGL02615:Usp38 APN 8 80985151 missense probably benign 0.00
IGL03340:Usp38 APN 8 81012276 missense probably damaging 1.00
P0033:Usp38 UTSW 8 80981896 missense probably benign 0.12
R0313:Usp38 UTSW 8 80984442 nonsense probably null
R0331:Usp38 UTSW 8 80995840 missense probably benign 0.00
R0497:Usp38 UTSW 8 80984424 splice site probably benign
R0594:Usp38 UTSW 8 81005366 missense probably damaging 0.97
R0632:Usp38 UTSW 8 81014150 missense probably benign 0.03
R1355:Usp38 UTSW 8 80985033 missense possibly damaging 0.61
R1500:Usp38 UTSW 8 80995770 missense probably damaging 1.00
R1566:Usp38 UTSW 8 80984803 missense probably benign 0.00
R1880:Usp38 UTSW 8 81001066 missense probably damaging 1.00
R4161:Usp38 UTSW 8 80993338 missense probably damaging 1.00
R4176:Usp38 UTSW 8 80993299 missense probably benign 0.33
R4882:Usp38 UTSW 8 80981977 nonsense probably null
R5344:Usp38 UTSW 8 80985763 missense possibly damaging 0.76
R5481:Usp38 UTSW 8 80993323 missense possibly damaging 0.89
R5564:Usp38 UTSW 8 80985088 missense probably damaging 0.96
R5897:Usp38 UTSW 8 81005453 missense probably benign 0.03
R6111:Usp38 UTSW 8 81013922 missense probably damaging 1.00
R6746:Usp38 UTSW 8 81014291 missense possibly damaging 0.80
R6912:Usp38 UTSW 8 80993329 missense probably damaging 1.00
R7051:Usp38 UTSW 8 81001121 missense possibly damaging 0.50
R7483:Usp38 UTSW 8 81014561 start gained probably benign
R7525:Usp38 UTSW 8 81014246 missense probably damaging 1.00
R7565:Usp38 UTSW 8 80981972 missense probably damaging 1.00
Posted On2015-04-16