Incidental Mutation 'R6003:Usp19'
ID 478467
Institutional Source Beutler Lab
Gene Symbol Usp19
Ensembl Gene ENSMUSG00000006676
Gene Name ubiquitin specific peptidase 19
Synonyms 8430421I07Rik
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108367806-108379536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108373579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 691 (Y691H)
Ref Sequence ENSEMBL: ENSMUSP00000141738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006854] [ENSMUST00000085044] [ENSMUST00000166103] [ENSMUST00000178075] [ENSMUST00000193678]
AlphaFold Q3UJD6
Predicted Effect probably damaging
Transcript: ENSMUST00000006854
AA Change: Y692H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: Y692H

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: Y692H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: Y692H

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 damaging
Transcript: ENSMUST00000166103
AA Change: Y668H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: Y668H

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 probably damaging
Transcript: ENSMUST00000178075
AA Change: Y693H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: Y693H

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: ENSMUST00000192854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193183
Predicted Effect unknown
Transcript: ENSMUST00000194171
AA Change: Y322H
Predicted Effect probably damaging
Transcript: ENSMUST00000193678
AA Change: Y691H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: Y691H

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 noncoding transcript
Transcript: ENSMUST00000193571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193975
Predicted Effect probably benign
Transcript: ENSMUST00000193558
Predicted Effect probably benign
Transcript: ENSMUST00000194863
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null 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
R3744:Usp19 UTSW 9 108,377,380 (GRCm39) missense probably damaging 1.00
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
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'- GGGCTACATGAAGACCTCAATCG -3'
(R):5'- TCTAACCACAGGCACCTTTAGG -3'

Sequencing Primer
(F):5'- CAGAGACTGTGGACTCGGAC -3'
(R):5'- AGGTTCTGCCCAATTCCTC -3'
Posted On 2017-06-26