Incidental Mutation 'IGL01446:Usp17lc'
List |< first << previous [record 39 of 42] next >> last >|
ID84406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp17lc
Ensembl Gene ENSMUSG00000058976
Gene Nameubiquitin specific peptidase 17-like C
SynonymsDub2, Usp17l5, Dub2b, Dub-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01446
Quality Score
Status
Chromosome7
Chromosomal Location103415072-103419880 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103418444 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 315 (R315S)
Ref Sequence ENSEMBL: ENSMUSP00000102505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079348] [ENSMUST00000106892]
Predicted Effect probably benign
Transcript: ENSMUST00000079348
AA Change: R315S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: R315S

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 benign
Transcript: ENSMUST00000106892
AA Change: R315S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: R315S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Usp17lc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Usp17lc APN 7 103418941 missense possibly damaging 0.74
IGL00499:Usp17lc APN 7 103418466 missense probably damaging 1.00
IGL00499:Usp17lc APN 7 103418465 missense probably damaging 1.00
R1466:Usp17lc UTSW 7 103418941 missense possibly damaging 0.74
R1466:Usp17lc UTSW 7 103418941 missense possibly damaging 0.74
R1584:Usp17lc UTSW 7 103418941 missense possibly damaging 0.74
R1754:Usp17lc UTSW 7 103418848 missense probably benign 0.01
R2987:Usp17lc UTSW 7 103418302 missense probably damaging 0.99
R3969:Usp17lc UTSW 7 103418419 missense probably damaging 1.00
R4661:Usp17lc UTSW 7 103418590 missense probably benign 0.00
R5118:Usp17lc UTSW 7 103418661 missense probably benign 0.05
R5413:Usp17lc UTSW 7 103418556 missense probably benign
R6962:Usp17lc UTSW 7 103418911 missense probably benign 0.00
R7412:Usp17lc UTSW 7 103418368 missense probably damaging 1.00
R7638:Usp17lc UTSW 7 103418499 missense probably damaging 1.00
R7748:Usp17lc UTSW 7 103418481 missense probably damaging 1.00
R8194:Usp17lc UTSW 7 103418200 missense probably benign 0.00
R8303:Usp17lc UTSW 7 103418182 missense possibly damaging 0.88
Posted On2013-11-11