Incidental Mutation 'IGL01571:Usp17lb'
ID 93286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp17lb
Ensembl Gene ENSMUSG00000062369
Gene Name ubiquitin specific peptidase 17-like B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01571
Quality Score
Status
Chromosome 7
Chromosomal Location 104840257-104842603 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104840381 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 445 (N445K)
Ref Sequence ENSEMBL: ENSMUSP00000102427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076501] [ENSMUST00000106814]
AlphaFold E9Q9U0
Predicted Effect possibly damaging
Transcript: ENSMUST00000076501
AA Change: N446K

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: N446K

DomainStartEndE-ValueType
Pfam:UCH 50 345 3.2e-55 PFAM
Pfam:UCH_1 51 327 6.8e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106814
AA Change: N445K

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: N445K

DomainStartEndE-ValueType
Pfam:UCH 49 344 2.3e-61 PFAM
Pfam:UCH_1 50 326 1.5e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Usp17lb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01559:Usp17lb APN 7 104841229 missense probably damaging 0.98
IGL01624:Usp17lb APN 7 104842513 utr 5 prime probably benign
IGL02582:Usp17lb APN 7 104840730 missense probably damaging 1.00
IGL03193:Usp17lb APN 7 104841277 missense possibly damaging 0.46
R0399:Usp17lb UTSW 7 104841151 missense possibly damaging 0.81
R0420:Usp17lb UTSW 7 104840539 missense probably benign
R1202:Usp17lb UTSW 7 104842488 missense probably damaging 0.98
R1628:Usp17lb UTSW 7 104840841 missense probably damaging 1.00
R2085:Usp17lb UTSW 7 104840415 missense possibly damaging 0.73
R2214:Usp17lb UTSW 7 104841432 missense probably benign 0.36
R2283:Usp17lb UTSW 7 104840652 missense possibly damaging 0.68
R2866:Usp17lb UTSW 7 104840748 missense probably damaging 1.00
R3433:Usp17lb UTSW 7 104841648 missense possibly damaging 0.89
R5004:Usp17lb UTSW 7 104841677 missense probably benign 0.00
R5090:Usp17lb UTSW 7 104841083 missense probably benign 0.06
R5143:Usp17lb UTSW 7 104841478 missense probably damaging 1.00
R5366:Usp17lb UTSW 7 104840408 missense possibly damaging 0.95
R5568:Usp17lb UTSW 7 104841208 missense probably damaging 1.00
R5605:Usp17lb UTSW 7 104840640 missense probably benign 0.00
R5647:Usp17lb UTSW 7 104840674 missense possibly damaging 0.92
R5981:Usp17lb UTSW 7 104841187 missense probably damaging 1.00
R5999:Usp17lb UTSW 7 104840345 missense probably damaging 0.99
R6114:Usp17lb UTSW 7 104840364 missense possibly damaging 0.87
R6185:Usp17lb UTSW 7 104841424 missense probably benign 0.22
R6279:Usp17lb UTSW 7 104840691 missense probably damaging 1.00
R6300:Usp17lb UTSW 7 104840691 missense probably damaging 1.00
R6891:Usp17lb UTSW 7 104841100 missense probably benign 0.02
R7000:Usp17lb UTSW 7 104841285 missense probably damaging 1.00
R7137:Usp17lb UTSW 7 104841591 missense probably benign 0.15
R7318:Usp17lb UTSW 7 104841133 missense probably benign 0.03
R7372:Usp17lb UTSW 7 104841706 splice site probably null
R7809:Usp17lb UTSW 7 104841213 missense probably damaging 1.00
R7834:Usp17lb UTSW 7 104841511 missense probably damaging 1.00
R8008:Usp17lb UTSW 7 104841274 missense possibly damaging 0.82
R8283:Usp17lb UTSW 7 104840806 missense probably damaging 0.98
R8385:Usp17lb UTSW 7 104840623 missense possibly damaging 0.82
R8942:Usp17lb UTSW 7 104841376 missense possibly damaging 0.49
R8996:Usp17lb UTSW 7 104841682 missense probably benign 0.17
X0021:Usp17lb UTSW 7 104841316 missense probably damaging 1.00
Z1088:Usp17lb UTSW 7 104841129 missense probably benign 0.04
Posted On 2013-12-09