Incidental Mutation 'IGL00499:Usp17lc'
ID 5190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp17lc
Ensembl Gene ENSMUSG00000058976
Gene Name ubiquitin specific peptidase 17-like C
Synonyms Dub-2, Dub2b, Dub2, Usp17l5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00499
Quality Score
Status
Chromosome 7
Chromosomal Location 103065903-103068381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103067672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 322 (M322I)
Ref Sequence ENSEMBL: ENSMUSP00000102505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079348] [ENSMUST00000106892]
AlphaFold G5E8I7
Predicted Effect probably damaging
Transcript: ENSMUST00000079348
AA Change: M322I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: M322I

DomainStartEndE-ValueType
Pfam:UCH 50 345 3.8e-54 PFAM
Pfam:UCH_1 51 327 3.5e-25 PFAM
low complexity region 374 385 N/A INTRINSIC
low complexity region 529 539 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106892
AA Change: M322I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: M322I

DomainStartEndE-ValueType
Pfam:UCH 50 345 1.3e-60 PFAM
Pfam:UCH_1 51 327 5.5e-30 PFAM
low complexity region 374 385 N/A INTRINSIC
low complexity region 529 539 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116717
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic elthality before implantation, failure to hatch from the zona pellucida, decreased cell proliferation and increased apoptosis. Mice heterozygous for this allele exhibit abnormal body, testis and thymus weight and reduced sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,711,138 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,215,301 (GRCm39) D480G possibly damaging Het
Adam26a A T 8: 44,021,896 (GRCm39) N531K possibly damaging Het
AW554918 A T 18: 25,553,122 (GRCm39) K542* probably null Het
Blk A G 14: 63,618,169 (GRCm39) F246L probably damaging Het
Camk1 T C 6: 113,313,172 (GRCm39) E292G probably benign Het
Ccdc88a C T 11: 29,449,341 (GRCm39) T261I probably benign Het
Cep290 A T 10: 100,379,189 (GRCm39) Q57L probably damaging Het
Cpsf1 A T 15: 76,484,416 (GRCm39) H688Q probably benign Het
Cryz T C 3: 154,310,579 (GRCm39) V13A possibly damaging Het
Dst A G 1: 34,329,504 (GRCm39) K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 (GRCm39) V371E possibly damaging Het
Eps8 C A 6: 137,499,886 (GRCm39) E181* probably null Het
Flt4 T C 11: 49,526,088 (GRCm39) I796T probably damaging Het
Gmps A G 3: 63,921,788 (GRCm39) N597S probably benign Het
Itgav T A 2: 83,633,339 (GRCm39) M1011K probably damaging Het
Kif16b A G 2: 142,699,244 (GRCm39) M112T probably damaging Het
Lig1 T C 7: 13,032,756 (GRCm39) probably null Het
Lrrc30 A G 17: 67,939,034 (GRCm39) F182S probably damaging Het
Oxsm A T 14: 16,242,076 (GRCm38) M231K probably damaging Het
Pnisr T C 4: 21,870,407 (GRCm39) probably null Het
Rsrc1 A T 3: 66,989,933 (GRCm39) probably benign Het
Setd1b A T 5: 123,296,810 (GRCm39) probably benign Het
Tbx6 A G 7: 126,380,701 (GRCm39) Y8C probably damaging Het
Tmem33 T C 5: 67,441,538 (GRCm39) Y196H probably damaging Het
Traf5 T C 1: 191,741,589 (GRCm39) D96G possibly damaging Het
Tsc22d1 T A 14: 76,656,357 (GRCm39) D945E probably damaging Het
Tubb2b T C 13: 34,312,329 (GRCm39) I155V probably benign Het
Usp13 T A 3: 32,935,560 (GRCm39) Y328N probably damaging Het
Zfp341 C T 2: 154,476,151 (GRCm39) T446I probably damaging Het
Zfp407 A G 18: 84,579,877 (GRCm39) L412P probably damaging Het
Zfp521 T A 18: 14,072,177 (GRCm39) D21V probably benign Het
Zranb1 A G 7: 132,584,233 (GRCm39) probably benign Het
Other mutations in Usp17lc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Usp17lc APN 7 103,068,148 (GRCm39) missense possibly damaging 0.74
IGL00499:Usp17lc APN 7 103,067,673 (GRCm39) missense probably damaging 1.00
IGL01446:Usp17lc APN 7 103,067,651 (GRCm39) missense probably benign 0.00
R1466:Usp17lc UTSW 7 103,068,148 (GRCm39) missense possibly damaging 0.74
R1466:Usp17lc UTSW 7 103,068,148 (GRCm39) missense possibly damaging 0.74
R1584:Usp17lc UTSW 7 103,068,148 (GRCm39) missense possibly damaging 0.74
R1754:Usp17lc UTSW 7 103,068,055 (GRCm39) missense probably benign 0.01
R2987:Usp17lc UTSW 7 103,067,509 (GRCm39) missense probably damaging 0.99
R3969:Usp17lc UTSW 7 103,067,626 (GRCm39) missense probably damaging 1.00
R4661:Usp17lc UTSW 7 103,067,797 (GRCm39) missense probably benign 0.00
R5118:Usp17lc UTSW 7 103,067,868 (GRCm39) missense probably benign 0.05
R5413:Usp17lc UTSW 7 103,067,763 (GRCm39) missense probably benign
R6962:Usp17lc UTSW 7 103,068,118 (GRCm39) missense probably benign 0.00
R7412:Usp17lc UTSW 7 103,067,575 (GRCm39) missense probably damaging 1.00
R7638:Usp17lc UTSW 7 103,067,706 (GRCm39) missense probably damaging 1.00
R7748:Usp17lc UTSW 7 103,067,688 (GRCm39) missense probably damaging 1.00
R8194:Usp17lc UTSW 7 103,067,407 (GRCm39) missense probably benign 0.00
R8303:Usp17lc UTSW 7 103,067,389 (GRCm39) missense possibly damaging 0.88
R8815:Usp17lc UTSW 7 103,067,524 (GRCm39) missense probably benign 0.01
R8859:Usp17lc UTSW 7 103,064,316 (GRCm39) missense probably benign 0.01
R9023:Usp17lc UTSW 7 103,067,539 (GRCm39) missense possibly damaging 0.88
R9200:Usp17lc UTSW 7 103,068,105 (GRCm39) missense probably benign 0.14
R9658:Usp17lc UTSW 7 103,067,389 (GRCm39) missense possibly damaging 0.88
Posted On 2012-04-20