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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |