Incidental Mutation 'IGL02089:Usp38'
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ID279356
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 #IGL02089
Quality Score
Status
Chromosome8
Chromosomal Location80980733-81014928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80985714 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 564 (E564G)
Ref Sequence ENSEMBL: ENSMUSP00000039943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042724]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042724
AA Change: E564G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: E564G

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 69,060,187 silent Het
Adck1 G T 12: 88,446,710 V271F probably damaging Het
Aggf1 T C 13: 95,370,929 D116G probably benign Het
Anapc1 A T 2: 128,663,933 V661E probably damaging Het
Apoa5 T C 9: 46,269,139 probably null Het
Atp8a2 C T 14: 60,026,920 probably null Het
Bnipl A T 3: 95,250,266 probably benign Het
Cbs T G 17: 31,615,545 D490A probably benign Het
Chrdl1 G T X: 143,303,514 H199N possibly damaging Het
D3Ertd254e T C 3: 36,164,728 F300S possibly damaging Het
Dcaf1 C T 9: 106,863,111 T1232I probably benign Het
Ddx19b T C 8: 111,008,845 probably benign Het
Ephb4 A G 5: 137,370,762 K805E probably damaging Het
Ergic3 A G 2: 156,010,475 N135D probably benign Het
Fbxw18 C T 9: 109,701,322 V74I probably benign Het
Fmo4 G T 1: 162,799,080 T299N probably benign Het
Gmeb1 T C 4: 132,225,836 K540E probably damaging Het
H60c T A 10: 3,259,826 S154C possibly damaging Het
Herc1 T C 9: 66,480,869 L3812S probably damaging Het
Hipk3 T C 2: 104,431,379 D937G probably damaging Het
Ift122 A G 6: 115,925,437 D1079G probably benign Het
Il6st T C 13: 112,495,240 W438R probably benign Het
Lypla2 C T 4: 135,969,621 V117I probably benign Het
Mapk8ip1 T C 2: 92,385,875 Y516C probably damaging Het
Mmp24 G A 2: 155,812,293 G397D probably damaging Het
Muc4 G A 16: 32,751,313 S397N possibly damaging Het
Muc5b T G 7: 141,863,250 V3311G probably benign Het
Naca A G 10: 128,036,489 probably benign Het
Nrxn1 A G 17: 91,088,401 V109A probably benign Het
Nup210 T G 6: 91,076,698 D279A probably benign Het
Olfr1097 A G 2: 86,891,116 S20P possibly damaging Het
Olfr981 A T 9: 40,022,770 I126F probably damaging Het
Pappa T A 4: 65,156,124 V305E possibly damaging Het
Pcdh19 A T X: 133,588,496 M977K probably benign Het
Pdzph1 T A 17: 58,967,339 I837F possibly damaging Het
Phip A T 9: 82,871,319 L1791M probably damaging Het
Pkdrej C T 15: 85,816,288 V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,448 V1063M probably damaging Het
Qprt A T 7: 127,108,356 M220K probably damaging Het
R3hcc1 T C 14: 69,700,026 K391E possibly damaging Het
Rbbp7 C A X: 162,771,056 P162Q probably benign Het
Rev3l A T 10: 39,825,099 N1864I probably damaging Het
Rims1 A G 1: 22,630,475 I84T possibly damaging Het
Rnase2b A T 14: 51,162,783 K107I probably benign Het
Sbf1 C A 15: 89,302,505 E864* probably null Het
Strip2 G A 6: 29,917,180 probably benign Het
Stx4a T C 7: 127,848,398 I238T probably damaging Het
Tbc1d2b C T 9: 90,222,359 V577I possibly damaging Het
Tex38 T C 4: 115,780,394 T71A possibly damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Wwp2 T A 8: 107,554,057 L644Q probably damaging Het
Zpld1 A G 16: 55,251,611 I95T 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
IGL02528:Usp38 APN 8 80993235 missense probably damaging 1.00
IGL02538:Usp38 APN 8 80985558 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
R8062:Usp38 UTSW 8 80984589 missense not run
RF016:Usp38 UTSW 8 81013893 missense probably benign 0.01
Posted On2015-04-16