Incidental Mutation 'R3744:Usp19'
ID 271124
Institutional Source Beutler Lab
Gene Symbol Usp19
Ensembl Gene ENSMUSG00000006676
Gene Name ubiquitin specific peptidase 19
Synonyms 8430421I07Rik
MMRRC Submission 040730-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R3744 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108367806-108379536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108377380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 886 (R886Q)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006854] [ENSMUST00000085044] [ENSMUST00000166103] [ENSMUST00000178075] [ENSMUST00000193678]
AlphaFold Q3UJD6
Predicted Effect probably damaging
Transcript: ENSMUST00000006854
AA Change: R1256Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: R1256Q

DomainStartEndE-ValueType
Pfam:CS 55 129 1.3e-6 PFAM
low complexity region 257 268 N/A INTRINSIC
Pfam:CS 326 414 7.1e-19 PFAM
Pfam:USP19_linker 415 537 2.2e-61 PFAM
Pfam:UCH 538 1253 1.2e-77 PFAM
Pfam:UCH_1 539 874 8.6e-11 PFAM
Pfam:zf-MYND 833 875 9.9e-11 PFAM
Pfam:UCH_1 1021 1235 7.1e-10 PFAM
low complexity region 1278 1287 N/A INTRINSIC
low complexity region 1301 1312 N/A INTRINSIC
transmembrane domain 1333 1355 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085044
AA Change: R1256Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: R1256Q

DomainStartEndE-ValueType
Pfam:CS 55 129 4.7e-7 PFAM
low complexity region 257 268 N/A INTRINSIC
Pfam:CS 326 414 2.5e-15 PFAM
low complexity region 449 460 N/A INTRINSIC
low complexity region 524 530 N/A INTRINSIC
Pfam:UCH 538 1253 7.4e-84 PFAM
Pfam:UCH_1 539 879 2.3e-13 PFAM
Pfam:zf-MYND 833 875 2.4e-10 PFAM
Pfam:UCH_1 1020 1235 2.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166103
AA Change: R1232Q

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: R1232Q

DomainStartEndE-ValueType
Pfam:CS 55 129 2.6e-7 PFAM
low complexity region 257 268 N/A INTRINSIC
Pfam:CS 326 390 3.9e-9 PFAM
low complexity region 425 436 N/A INTRINSIC
low complexity region 500 506 N/A INTRINSIC
Pfam:UCH 514 1229 1.8e-84 PFAM
Pfam:UCH_1 515 855 5.5e-14 PFAM
Pfam:zf-MYND 809 851 1.7e-10 PFAM
Pfam:UCH_1 996 1211 6.9e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178075
AA Change: R1257Q

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: R1257Q

DomainStartEndE-ValueType
Pfam:CS 55 129 1e-6 PFAM
low complexity region 258 269 N/A INTRINSIC
Pfam:CS 327 415 5.4e-15 PFAM
low complexity region 450 461 N/A INTRINSIC
low complexity region 525 531 N/A INTRINSIC
Pfam:UCH 539 1254 4.9e-84 PFAM
Pfam:UCH_1 540 880 1.4e-13 PFAM
Pfam:zf-MYND 834 876 5.2e-10 PFAM
Pfam:UCH_1 1021 1236 1.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193975
Predicted Effect possibly damaging
Transcript: ENSMUST00000193678
AA Change: R1255Q

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: R1255Q

DomainStartEndE-ValueType
Pfam:CS 55 129 6.8e-7 PFAM
low complexity region 258 269 N/A INTRINSIC
Pfam:CS 327 415 3.6e-15 PFAM
low complexity region 448 459 N/A INTRINSIC
low complexity region 523 529 N/A INTRINSIC
Pfam:UCH 537 1252 3.8e-84 PFAM
Pfam:UCH_1 538 878 1.1e-13 PFAM
Pfam:zf-MYND 832 874 5.1e-10 PFAM
Pfam:UCH_1 1019 1234 1.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194171
AA Change: R886Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194499
Predicted Effect probably benign
Transcript: ENSMUST00000194863
Meta Mutation Damage Score 0.1403 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (33/33)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased body weight, reduced male fertility, and increased resistance to skeletal muscle atrophy induced by both glucocorticoids and denervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,330,190 (GRCm39) probably benign Het
Aox4 C T 1: 58,285,029 (GRCm39) H594Y probably damaging Het
Aspn G A 13: 49,720,036 (GRCm39) E351K probably damaging Het
BC004004 A G 17: 29,520,423 (GRCm39) *349W probably null Het
Elmo2 C T 2: 165,157,922 (GRCm39) D39N probably damaging Het
Fam161a T C 11: 22,970,410 (GRCm39) F196S probably damaging Het
Fam186a A G 15: 99,845,416 (GRCm39) V276A unknown Het
Fn3krp T C 11: 121,317,531 (GRCm39) probably null Het
Gnai3 T C 3: 108,016,714 (GRCm39) probably benign Het
Hspg2 C T 4: 137,292,815 (GRCm39) probably benign Het
Igkv5-43 G A 6: 69,752,921 (GRCm39) H54Y probably benign Het
Kif26b A G 1: 178,506,595 (GRCm39) I224V probably benign Het
Lyg1 T C 1: 37,988,923 (GRCm39) Y99C probably benign Het
Myh4 C T 11: 67,146,141 (GRCm39) R1400C probably damaging Het
Nf1 T C 11: 79,439,573 (GRCm39) S2262P probably benign Het
Pop5 T C 5: 115,378,567 (GRCm39) Y117H possibly damaging Het
Prpf8 T A 11: 75,397,547 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rapgef6 T C 11: 54,516,760 (GRCm39) F54S probably benign Het
Sptb T C 12: 76,647,174 (GRCm39) T1954A probably benign Het
Ssbp2 T C 13: 91,828,765 (GRCm39) probably benign Het
Tap1 A T 17: 34,412,586 (GRCm39) D541V probably damaging Het
Tcte1 A G 17: 45,850,597 (GRCm39) D291G probably damaging Het
Tpbg A G 9: 85,727,215 (GRCm39) R395G probably damaging Het
Trappc10 T A 10: 78,034,924 (GRCm39) S941C probably benign Het
Utp14b G T 1: 78,642,973 (GRCm39) E290D probably benign Het
Vmn1r30 A T 6: 58,412,804 (GRCm39) Y9* probably null Het
Vmn2r97 A G 17: 19,149,890 (GRCm39) H426R probably benign Het
Vwa3a A G 7: 120,351,817 (GRCm39) D27G probably benign Het
Zfp36 A G 7: 28,077,201 (GRCm39) S236P probably benign Het
Zfp616 C A 11: 73,974,813 (GRCm39) H452N probably benign Het
Other mutations in Usp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Usp19 APN 9 108,376,160 (GRCm39) missense possibly damaging 0.79
IGL02345:Usp19 APN 9 108,371,057 (GRCm39) missense probably benign
IGL03026:Usp19 APN 9 108,370,344 (GRCm39) missense probably damaging 1.00
IGL03057:Usp19 APN 9 108,376,329 (GRCm39) missense probably benign 0.01
IGL03073:Usp19 APN 9 108,373,002 (GRCm39) unclassified probably benign
IGL03333:Usp19 APN 9 108,371,348 (GRCm39) missense probably benign 0.05
PIT4504001:Usp19 UTSW 9 108,370,169 (GRCm39) missense probably benign 0.00
PIT4576001:Usp19 UTSW 9 108,369,931 (GRCm39) critical splice donor site probably null
R0053:Usp19 UTSW 9 108,374,369 (GRCm39) splice site probably null
R0053:Usp19 UTSW 9 108,374,369 (GRCm39) splice site probably null
R0138:Usp19 UTSW 9 108,378,514 (GRCm39) missense possibly damaging 0.86
R0281:Usp19 UTSW 9 108,375,708 (GRCm39) missense probably damaging 1.00
R0386:Usp19 UTSW 9 108,376,910 (GRCm39) missense probably damaging 1.00
R0454:Usp19 UTSW 9 108,371,439 (GRCm39) critical splice donor site probably null
R0506:Usp19 UTSW 9 108,371,686 (GRCm39) missense probably damaging 1.00
R0542:Usp19 UTSW 9 108,371,584 (GRCm39) splice site probably null
R0800:Usp19 UTSW 9 108,372,353 (GRCm39) missense probably damaging 0.97
R0829:Usp19 UTSW 9 108,371,000 (GRCm39) missense probably benign
R1594:Usp19 UTSW 9 108,375,721 (GRCm39) missense probably damaging 1.00
R1917:Usp19 UTSW 9 108,376,524 (GRCm39) nonsense probably null
R3964:Usp19 UTSW 9 108,375,228 (GRCm39) missense probably damaging 1.00
R4275:Usp19 UTSW 9 108,375,893 (GRCm39) missense probably damaging 1.00
R4789:Usp19 UTSW 9 108,370,433 (GRCm39) missense possibly damaging 0.75
R5247:Usp19 UTSW 9 108,373,264 (GRCm39) splice site probably null
R5249:Usp19 UTSW 9 108,369,807 (GRCm39) start codon destroyed probably null 0.85
R5400:Usp19 UTSW 9 108,377,392 (GRCm39) missense probably damaging 1.00
R5445:Usp19 UTSW 9 108,375,119 (GRCm39) missense possibly damaging 0.61
R5578:Usp19 UTSW 9 108,370,639 (GRCm39) missense probably benign
R5934:Usp19 UTSW 9 108,369,766 (GRCm39) unclassified probably benign
R6003:Usp19 UTSW 9 108,373,579 (GRCm39) missense probably damaging 1.00
R6217:Usp19 UTSW 9 108,377,343 (GRCm39) missense probably damaging 1.00
R6230:Usp19 UTSW 9 108,379,140 (GRCm39) missense probably damaging 0.99
R6505:Usp19 UTSW 9 108,374,082 (GRCm39) missense probably damaging 1.00
R6585:Usp19 UTSW 9 108,376,926 (GRCm39) missense probably damaging 0.97
R6865:Usp19 UTSW 9 108,376,018 (GRCm39) nonsense probably null
R6953:Usp19 UTSW 9 108,376,130 (GRCm39) missense possibly damaging 0.90
R7037:Usp19 UTSW 9 108,374,157 (GRCm39) missense possibly damaging 0.52
R7046:Usp19 UTSW 9 108,374,334 (GRCm39) missense possibly damaging 0.48
R7235:Usp19 UTSW 9 108,372,123 (GRCm39) nonsense probably null
R7699:Usp19 UTSW 9 108,373,371 (GRCm39) nonsense probably null
R7705:Usp19 UTSW 9 108,379,112 (GRCm39) missense possibly damaging 0.89
R8175:Usp19 UTSW 9 108,377,377 (GRCm39) missense probably damaging 1.00
R8551:Usp19 UTSW 9 108,376,496 (GRCm39) missense possibly damaging 0.50
R8725:Usp19 UTSW 9 108,370,934 (GRCm39) missense probably damaging 1.00
R9142:Usp19 UTSW 9 108,372,284 (GRCm39) missense possibly damaging 0.79
R9143:Usp19 UTSW 9 108,375,398 (GRCm39) missense probably damaging 1.00
R9421:Usp19 UTSW 9 108,376,792 (GRCm39) missense probably damaging 1.00
R9508:Usp19 UTSW 9 108,371,608 (GRCm39) missense probably damaging 1.00
R9663:Usp19 UTSW 9 108,371,894 (GRCm39) missense probably damaging 1.00
R9731:Usp19 UTSW 9 108,376,885 (GRCm39) missense probably damaging 1.00
RF041:Usp19 UTSW 9 108,371,187 (GRCm39) critical splice acceptor site unknown
Predicted Primers PCR Primer
(F):5'- CTATACTGCTTGTGCACGGC -3'
(R):5'- ACCTGAATGTCGAAGAACCC -3'

Sequencing Primer
(F):5'- TGCCCAATGATCGCAGTAG -3'
(R):5'- CCCAGTCTATAAATTCTGTAGACCTG -3'
Posted On 2015-03-18