Incidental Mutation 'R7037:Usp19'
ID |
546775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp19
|
Ensembl Gene |
ENSMUSG00000006676 |
Gene Name |
ubiquitin specific peptidase 19 |
Synonyms |
8430421I07Rik |
MMRRC Submission |
045137-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R7037 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108374157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 738
(I738T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
AlphaFold |
Q3UJD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006854
AA Change: I739T
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000006854 Gene: ENSMUSG00000006676 AA Change: I739T
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 benign
Transcript: ENSMUST00000085044
AA Change: I739T
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000082119 Gene: ENSMUSG00000006676 AA Change: I739T
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: I715T
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128573 Gene: ENSMUSG00000006676 AA Change: I715T
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 |
probably benign
Transcript: ENSMUST00000178075
AA Change: I740T
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135930 Gene: ENSMUSG00000006676 AA Change: I740T
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 |
probably benign
Transcript: ENSMUST00000193558
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193678
AA Change: I738T
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141738 Gene: ENSMUSG00000006676 AA Change: I738T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
Meta Mutation Damage Score |
0.1432 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (70/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
A |
T |
7: 119,367,266 (GRCm39) |
N33I |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,740,712 (GRCm39) |
V314D |
probably damaging |
Het |
Arl14epl |
T |
G |
18: 47,065,510 (GRCm39) |
C92G |
probably benign |
Het |
Atp6v1h |
T |
A |
1: 5,220,215 (GRCm39) |
M423K |
possibly damaging |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Baz2b |
C |
T |
2: 59,764,014 (GRCm39) |
|
probably null |
Het |
Bicral |
T |
C |
17: 47,135,560 (GRCm39) |
H550R |
probably benign |
Het |
C1rl |
A |
G |
6: 124,485,598 (GRCm39) |
Y323C |
probably damaging |
Het |
Ccr9 |
T |
A |
9: 123,609,036 (GRCm39) |
H239Q |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,344,267 (GRCm39) |
R91* |
probably null |
Het |
Coro1c |
A |
G |
5: 113,983,457 (GRCm39) |
F357S |
possibly damaging |
Het |
Cpsf4 |
G |
A |
5: 145,112,939 (GRCm39) |
R141Q |
possibly damaging |
Het |
Cryzl2 |
G |
A |
1: 157,298,318 (GRCm39) |
V236I |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,435,117 (GRCm39) |
E247G |
probably damaging |
Het |
Dbr1 |
T |
A |
9: 99,458,621 (GRCm39) |
|
probably null |
Het |
Dclk1 |
T |
C |
3: 55,370,469 (GRCm39) |
S23P |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,692,938 (GRCm39) |
I361F |
probably benign |
Het |
Elac2 |
A |
G |
11: 64,874,537 (GRCm39) |
E218G |
probably benign |
Het |
Eml4 |
T |
A |
17: 83,732,756 (GRCm39) |
D136E |
probably benign |
Het |
Foxred1 |
A |
T |
9: 35,118,844 (GRCm39) |
S223T |
probably benign |
Het |
Garin5b |
G |
T |
7: 4,761,584 (GRCm39) |
|
probably benign |
Het |
Gask1a |
G |
T |
9: 121,794,592 (GRCm39) |
V249L |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,474 (GRCm39) |
C69R |
unknown |
Het |
Gna14 |
A |
T |
19: 16,511,128 (GRCm39) |
H59L |
|
Het |
H2-Ab1 |
T |
A |
17: 34,486,963 (GRCm39) |
I239N |
probably damaging |
Het |
Ints7 |
T |
C |
1: 191,351,717 (GRCm39) |
S809P |
probably benign |
Het |
Itgb4 |
T |
A |
11: 115,896,391 (GRCm39) |
Y1379* |
probably null |
Het |
Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lrrc66 |
A |
T |
5: 73,764,504 (GRCm39) |
D846E |
probably benign |
Het |
Lyst |
A |
G |
13: 13,791,251 (GRCm39) |
H38R |
probably damaging |
Het |
Mc3r |
T |
C |
2: 172,091,554 (GRCm39) |
F259L |
probably damaging |
Het |
Med25 |
A |
G |
7: 44,532,206 (GRCm39) |
Y384H |
probably damaging |
Het |
Met |
A |
T |
6: 17,547,127 (GRCm39) |
|
probably benign |
Het |
Mmp16 |
T |
C |
4: 18,116,148 (GRCm39) |
V584A |
possibly damaging |
Het |
Mrgprb3 |
A |
G |
7: 48,292,942 (GRCm39) |
L203P |
probably damaging |
Het |
Mus81 |
A |
G |
19: 5,536,108 (GRCm39) |
L185P |
probably damaging |
Het |
Naaa |
A |
G |
5: 92,424,934 (GRCm39) |
V75A |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,934,755 (GRCm39) |
T5292S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,943,430 (GRCm39) |
S4801G |
probably damaging |
Het |
Or2ag19 |
T |
C |
7: 106,444,543 (GRCm39) |
S242P |
probably damaging |
Het |
Otof |
T |
C |
5: 30,538,882 (GRCm39) |
D1112G |
probably benign |
Het |
Pals1 |
T |
A |
12: 78,843,973 (GRCm39) |
I59N |
probably damaging |
Het |
Pbx4 |
A |
G |
8: 70,317,525 (GRCm39) |
R170G |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Plce1 |
A |
T |
19: 38,690,461 (GRCm39) |
D715V |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,246,770 (GRCm39) |
T311A |
possibly damaging |
Het |
Popdc2 |
A |
G |
16: 38,194,629 (GRCm39) |
D350G |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,429,100 (GRCm39) |
V661A |
probably benign |
Het |
Ptbp2 |
A |
G |
3: 119,545,557 (GRCm39) |
Y130H |
probably damaging |
Het |
Rev3l |
C |
T |
10: 39,727,971 (GRCm39) |
R2707W |
probably damaging |
Het |
Rpl37 |
G |
A |
15: 5,147,185 (GRCm39) |
R75K |
probably null |
Het |
Ryr3 |
T |
A |
2: 112,779,475 (GRCm39) |
R259* |
probably null |
Het |
Scai |
A |
T |
2: 39,080,633 (GRCm39) |
S8T |
probably benign |
Het |
Scn4a |
C |
A |
11: 106,211,726 (GRCm39) |
L1430F |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,686,993 (GRCm39) |
K1035R |
probably damaging |
Het |
Siah3 |
A |
G |
14: 75,763,025 (GRCm39) |
H92R |
probably benign |
Het |
Smc4 |
G |
A |
3: 68,925,528 (GRCm39) |
V342I |
possibly damaging |
Het |
Spata31d1a |
C |
T |
13: 59,848,138 (GRCm39) |
C1330Y |
possibly damaging |
Het |
St18 |
C |
A |
1: 6,873,260 (GRCm39) |
H332N |
possibly damaging |
Het |
Sycp1 |
T |
A |
3: 102,806,250 (GRCm39) |
E480D |
possibly damaging |
Het |
Tex14 |
A |
T |
11: 87,388,741 (GRCm39) |
I323F |
probably damaging |
Het |
Tm7sf2 |
A |
T |
19: 6,114,107 (GRCm39) |
|
probably null |
Het |
Tmem241 |
G |
T |
18: 12,246,463 (GRCm39) |
H62Q |
probably benign |
Het |
Tmem54 |
T |
A |
4: 129,004,594 (GRCm39) |
|
probably null |
Het |
Tomm34 |
A |
G |
2: 163,912,398 (GRCm39) |
L39P |
probably damaging |
Het |
Triml2 |
T |
A |
8: 43,646,573 (GRCm39) |
V354D |
probably damaging |
Het |
Utp25 |
A |
C |
1: 192,803,031 (GRCm39) |
|
probably null |
Het |
Utrn |
T |
A |
10: 12,702,514 (GRCm39) |
|
probably null |
Het |
Zfp1005 |
G |
T |
2: 150,108,376 (GRCm39) |
V46F |
possibly damaging |
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 |
|
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 |
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'- CCACTGAAGTTTGCTGATTGGC -3'
(R):5'- CATGGCCACACATGCAGAAG -3'
Sequencing Primer
(F):5'- CTGAGAGCCCTGACAGCCTTG -3'
(R):5'- TTCACGTGGACACTCTGAGAG -3'
|
Posted On |
2019-05-13 |