Incidental Mutation 'IGL00338:Usp17lc'
ID 5188
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 # IGL00338
Quality Score
Status
Chromosome 7
Chromosomal Location 103065903-103068381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103068148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 481 (H481R)
Ref Sequence ENSEMBL: ENSMUSP00000102505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079348] [ENSMUST00000106892]
AlphaFold G5E8I7
Predicted Effect possibly damaging
Transcript: ENSMUST00000079348
AA Change: H481R

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: H481R

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 possibly damaging
Transcript: ENSMUST00000106892
AA Change: H481R

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: H481R

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
Meta Mutation Damage Score 0.3015 question?
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 A G 5: 135,040,839 (GRCm39) D217G probably benign Het
Ankar T A 1: 72,729,290 (GRCm39) Y285F probably damaging Het
Ano8 C A 8: 71,936,902 (GRCm39) probably benign Het
Bche A G 3: 73,608,640 (GRCm39) V262A probably benign Het
Car13 T C 3: 14,721,964 (GRCm39) probably benign Het
Cd244a T A 1: 171,401,938 (GRCm39) probably null Het
Cfap157 T C 2: 32,671,395 (GRCm39) D137G probably damaging Het
Cobl T C 11: 12,325,813 (GRCm39) R119G possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gp2 A G 7: 119,053,613 (GRCm39) M116T probably damaging Het
Gp5 C A 16: 30,127,640 (GRCm39) A345S probably benign Het
Gphn A T 12: 78,551,406 (GRCm39) I285F probably damaging Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Hecw2 T C 1: 53,867,040 (GRCm39) probably benign Het
Hydin C A 8: 111,296,434 (GRCm39) N3654K possibly damaging Het
Inpp5b A G 4: 124,678,168 (GRCm39) Y440C possibly damaging Het
Or4a47 A T 2: 89,665,802 (GRCm39) Y162* probably null Het
Pphln1 A G 15: 93,363,091 (GRCm39) K306E probably damaging Het
Rnf26 A C 9: 44,024,156 (GRCm39) S31A probably benign Het
Ros1 A T 10: 52,001,907 (GRCm39) S1072T probably benign Het
Skic2 A G 17: 35,065,643 (GRCm39) W304R probably damaging Het
Slc22a14 A G 9: 119,007,579 (GRCm39) F277L possibly damaging Het
Slc22a26 A T 19: 7,760,340 (GRCm39) L468I probably benign Het
Tchh C T 3: 93,354,951 (GRCm39) L1464F unknown Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Ttn A G 2: 76,804,409 (GRCm39) S288P probably damaging Het
Vps50 C T 6: 3,602,670 (GRCm39) T929M probably benign Het
Zdhhc8 A G 16: 18,043,060 (GRCm39) L380P possibly damaging Het
Other mutations in Usp17lc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Usp17lc APN 7 103,067,672 (GRCm39) missense probably damaging 1.00
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