Incidental Mutation 'IGL03333:Usp19'
ID 416932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp19
Ensembl Gene ENSMUSG00000006676
Gene Name ubiquitin specific peptidase 19
Synonyms 8430421I07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # IGL03333
Quality Score
Status
Chromosome 9
Chromosomal Location 108367806-108379536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108371348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 285 (M285K)
Ref Sequence ENSEMBL: ENSMUSP00000082119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006854] [ENSMUST00000065014] [ENSMUST00000085044] [ENSMUST00000166103] [ENSMUST00000178075] [ENSMUST00000193678]
AlphaFold Q3UJD6
Predicted Effect probably benign
Transcript: ENSMUST00000006854
AA Change: M285K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: M285K

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 benign
Transcript: ENSMUST00000065014
SMART Domains Protein: ENSMUSP00000069087
Gene: ENSMUSG00000052911

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
LamNT 44 284 1.9e-102 SMART
EGF_Lam 286 347 1.34e-6 SMART
EGF_Lam 350 410 6.1e-10 SMART
EGF_Lam 413 470 2.98e-13 SMART
EGF_Lam 473 522 7.93e-9 SMART
EGF_Lam 525 569 1.01e-10 SMART
EGF_Lam 784 829 3.42e-13 SMART
EGF_Lam 832 875 6.54e-10 SMART
EGF_Lam 878 925 1.34e-6 SMART
EGF_Lam 928 984 4.74e-7 SMART
EGF_Lam 987 1036 1.53e-10 SMART
EGF_Lam 1039 1093 6.29e-12 SMART
EGF_Lam 1096 1141 1.79e-7 SMART
EGF_Lam 1144 1188 6.64e-11 SMART
coiled coil region 1261 1299 N/A INTRINSIC
low complexity region 1445 1458 N/A INTRINSIC
coiled coil region 1473 1527 N/A INTRINSIC
low complexity region 1609 1625 N/A INTRINSIC
SCOP:d1eq1a_ 1632 1786 5e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085044
AA Change: M285K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: M285K

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: M285K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: M285K

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 benign
Transcript: ENSMUST00000178075
AA Change: M286K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: M286K

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 probably benign
Transcript: ENSMUST00000193678
AA Change: M286K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: M286K

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 unknown
Transcript: ENSMUST00000193558
AA Change: M100K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194499
Predicted Effect probably benign
Transcript: ENSMUST00000194171
Predicted Effect probably benign
Transcript: ENSMUST00000194863
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,610,932 (GRCm39) M893V probably benign Het
Ccdc185 C A 1: 182,576,398 (GRCm39) G97V probably damaging Het
Cep170 T C 1: 176,597,092 (GRCm39) T422A possibly damaging Het
Ckap2l A C 2: 129,138,228 (GRCm39) probably null Het
Cpa3 A G 3: 20,269,992 (GRCm39) Y411H possibly damaging Het
Dnah2 C A 11: 69,385,949 (GRCm39) R1011L probably damaging Het
Efnb2 T A 8: 8,689,275 (GRCm39) K30* probably null Het
Ep400 C T 5: 110,851,432 (GRCm39) R1350H unknown Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc7 C A 11: 116,191,987 (GRCm39) V195L probably benign Het
Fbxw8 T C 5: 118,233,660 (GRCm39) M324V possibly damaging Het
Fchsd2 T C 7: 100,847,703 (GRCm39) S198P probably damaging Het
Gcdh T C 8: 85,617,700 (GRCm39) T202A probably benign Het
Gm6619 G A 6: 131,467,471 (GRCm39) probably benign Het
Itpr1 A T 6: 108,357,871 (GRCm39) probably benign Het
Kif2c A C 4: 117,037,833 (GRCm39) V31G possibly damaging Het
Kpna7 T C 5: 144,942,765 (GRCm39) I74V possibly damaging Het
Lvrn G A 18: 46,997,731 (GRCm39) probably benign Het
Man2b2 T A 5: 36,973,483 (GRCm39) I499F probably damaging Het
Mmd2 G T 5: 142,553,693 (GRCm39) probably benign Het
Or11h7 C T 14: 50,890,855 (GRCm39) Q54* probably null Het
Or2r11 T C 6: 42,437,773 (GRCm39) Y60C probably damaging Het
Or6b1 T A 6: 42,815,637 (GRCm39) I274N possibly damaging Het
Or8g2b T A 9: 39,751,308 (GRCm39) Y193N probably damaging Het
Parp14 A G 16: 35,661,800 (GRCm39) S1412P probably benign Het
Prr30 A T 14: 101,435,827 (GRCm39) V245E possibly damaging Het
Ros1 T A 10: 52,031,267 (GRCm39) D458V probably damaging Het
Sec22c A G 9: 121,517,284 (GRCm39) L138P probably damaging Het
Sema6d C A 2: 124,506,290 (GRCm39) H699Q possibly damaging Het
Spata17 A T 1: 186,872,667 (GRCm39) M1K probably null Het
Tpr T A 1: 150,302,718 (GRCm39) D1331E probably benign Het
Ttc4 A G 4: 106,533,828 (GRCm39) Y120H probably benign Het
Tubgcp4 A G 2: 121,026,654 (GRCm39) probably null Het
Vmn1r222 A T 13: 23,417,177 (GRCm39) F12Y probably benign Het
Vmn2r72 T C 7: 85,400,075 (GRCm39) K325E probably benign Het
Vps33b T C 7: 79,923,973 (GRCm39) probably benign Het
Zfp784 C T 7: 5,039,351 (GRCm39) 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
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
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
Posted On 2016-08-02