Incidental Mutation 'R8194:Usp17lc'
ID 635345
Institutional Source Beutler Lab
Gene Symbol Usp17lc
Ensembl Gene ENSMUSG00000058976
Gene Name ubiquitin specific peptidase 17-like C
Synonyms Dub-2, Dub2b, Dub2, Usp17l5
MMRRC Submission 067617-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8194 (G1)
Quality Score 135.008
Status Not validated
Chromosome 7
Chromosomal Location 103065903-103068381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103067407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 234 (M234K)
Ref Sequence ENSEMBL: ENSMUSP00000078323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079348] [ENSMUST00000106892]
AlphaFold G5E8I7
Predicted Effect probably benign
Transcript: ENSMUST00000079348
AA Change: M234K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000078323
Gene: ENSMUSG00000058976
AA Change: M234K

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: M234K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102505
Gene: ENSMUSG00000058976
AA Change: M234K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4a T A 12: 71,106,889 (GRCm39) Y320* probably null Het
Ash1l T A 3: 88,960,062 (GRCm39) C2265S probably damaging Het
Atg4b T A 1: 93,713,694 (GRCm39) C55* probably null Het
Cacna1s A T 1: 136,005,430 (GRCm39) N405I probably benign Het
Capn11 A T 17: 45,944,325 (GRCm39) D526E probably damaging Het
Ccdc188 A G 16: 18,036,244 (GRCm39) R71G probably benign Het
Ccser2 G A 14: 36,618,220 (GRCm39) R772W probably damaging Het
Cenpf T A 1: 189,414,600 (GRCm39) E172D probably benign Het
Cep85 T C 4: 133,861,400 (GRCm39) M627V probably null Het
Chd1 G A 17: 17,594,737 (GRCm39) probably benign Het
Cnst A G 1: 179,437,759 (GRCm39) H441R probably benign Het
Cyp2d11 G T 15: 82,274,638 (GRCm39) T313N probably damaging Het
Cyp2g1 A G 7: 26,514,159 (GRCm39) N255S possibly damaging Het
Dnah5 A G 15: 28,453,414 (GRCm39) D4395G probably damaging Het
Fam83h ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT 15: 75,874,624 (GRCm39) probably benign Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gpsm1 CT CTT 2: 26,217,364 (GRCm39) probably null Het
Lama4 A G 10: 38,954,716 (GRCm39) S1090G probably damaging Het
Malrd1 A G 2: 15,929,931 (GRCm39) D1479G unknown Het
Man2a2 T C 7: 80,010,766 (GRCm39) K742E probably benign Het
Mapk8 A T 14: 33,104,241 (GRCm39) S392T probably benign Het
Mark3 T C 12: 111,559,117 (GRCm39) I53T probably damaging Het
Mcmdc2 A G 1: 9,986,867 (GRCm39) I219V probably benign Het
Mlycd A T 8: 120,134,332 (GRCm39) E278V probably benign Het
Muc2 G T 7: 141,290,801 (GRCm39) C29F Het
Mup20 T C 4: 61,971,721 (GRCm39) I77V probably benign Het
Myh3 A G 11: 66,982,828 (GRCm39) E849G probably damaging Het
Nedd4 A G 9: 72,593,389 (GRCm39) N154S probably damaging Het
Odad4 G A 11: 100,454,502 (GRCm39) G429E probably benign Het
Or1e1f A T 11: 73,856,240 (GRCm39) I269F probably benign Het
Pcdh7 A T 5: 57,877,678 (GRCm39) N411I probably damaging Het
Plekhm1 A G 11: 103,285,886 (GRCm39) I183T possibly damaging Het
Prkar2a G A 9: 108,569,710 (GRCm39) V19M probably damaging Het
Prss35 T G 9: 86,637,666 (GRCm39) N145K possibly damaging Het
Ranbp2 T A 10: 58,291,747 (GRCm39) D251E possibly damaging Het
Rnf169 C A 7: 99,575,651 (GRCm39) V315F probably damaging Het
Slc32a1 T C 2: 158,455,761 (GRCm39) Y139H probably damaging Het
Slc5a2 T C 7: 127,870,328 (GRCm39) V522A probably benign Het
Slc6a6 A T 6: 91,717,952 (GRCm39) Q297L probably damaging Het
Sos2 A C 12: 69,645,598 (GRCm39) Y914D probably damaging Het
Spata1 G T 3: 146,195,614 (GRCm39) T32N possibly damaging Het
Srcap C T 7: 127,138,369 (GRCm39) R1180C probably damaging Het
St14 A T 9: 31,042,921 (GRCm39) M1K probably null Het
Tcaf1 T C 6: 42,652,236 (GRCm39) T749A probably benign Het
Tcp1 T C 17: 13,141,621 (GRCm39) probably null Het
Tle6 A G 10: 81,426,888 (GRCm39) V576A probably damaging Het
Washc4 A G 10: 83,416,163 (GRCm39) I818V possibly damaging Het
Zdhhc18 A G 4: 133,341,165 (GRCm39) L236P probably damaging Het
Zfp266 T C 9: 20,411,610 (GRCm39) D189G probably benign Het
Zfp474 A T 18: 52,772,229 (GRCm39) D294V probably damaging Het
Zfp568 T C 7: 29,722,758 (GRCm39) F568L probably damaging Het
Zfp93 A G 7: 23,975,479 (GRCm39) K488R 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 7 103,067,672 (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
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
Predicted Primers PCR Primer
(F):5'- TGTGGAGGTCTCAGATCAAGTG -3'
(R):5'- TCCACTGTGACAAGTCGCAC -3'

Sequencing Primer
(F):5'- AGATCAAGTGTCTCCATTGCCAGG -3'
(R):5'- GTGACAAGTCGCACCTTCATG -3'
Posted On 2020-07-13