Incidental Mutation 'R5445:Usp19'
| ID |
427410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
043010-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R5445 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108375119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 782
(V782F)
|
| 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: V783F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: V783F
| 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: V783F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: V783F
| 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 |
possibly damaging
Transcript: ENSMUST00000166103
AA Change: V759F
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: V759F
| 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: V784F
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: V784F
| 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: ENSMUST00000192854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193412
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194863
AA Change: V35F
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193678
AA Change: V782F
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: V782F
| 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 |
noncoding transcript
Transcript: ENSMUST00000195763
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194171
AA Change: V413F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193558
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,978,557 (GRCm39) |
D300E |
probably damaging |
Het |
| Apbb1ip |
T |
C |
2: 22,725,960 (GRCm39) |
V244A |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,159,678 (GRCm39) |
S232P |
probably benign |
Het |
| Atf7ip |
G |
A |
6: 136,564,255 (GRCm39) |
V833M |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,421,770 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
T |
C |
2: 118,590,067 (GRCm39) |
D259G |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,299,974 (GRCm39) |
E2911D |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,770,469 (GRCm39) |
D1807G |
probably benign |
Het |
| Cfap251 |
C |
T |
5: 123,425,240 (GRCm39) |
T294M |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,557,660 (GRCm39) |
T753A |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,733,014 (GRCm39) |
D971G |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,865,727 (GRCm39) |
T772A |
possibly damaging |
Het |
| Cntn1 |
A |
T |
15: 92,192,958 (GRCm39) |
N687Y |
probably damaging |
Het |
| Col6a3 |
G |
A |
1: 90,709,761 (GRCm39) |
R1812* |
probably null |
Het |
| Dsc2 |
T |
C |
18: 20,168,360 (GRCm39) |
I700V |
possibly damaging |
Het |
| Flt3 |
G |
A |
5: 147,291,905 (GRCm39) |
Q540* |
probably null |
Het |
| Fmo4 |
T |
A |
1: 162,632,842 (GRCm39) |
I170F |
probably benign |
Het |
| Fra10ac1 |
T |
A |
19: 38,207,910 (GRCm39) |
D72V |
possibly damaging |
Het |
| Garin2 |
G |
A |
12: 78,761,890 (GRCm39) |
E185K |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm2381 |
T |
G |
7: 42,469,425 (GRCm39) |
H233P |
probably damaging |
Het |
| Gm5148 |
T |
A |
3: 37,768,995 (GRCm39) |
Q75L |
probably damaging |
Het |
| Gm8369 |
T |
C |
19: 11,482,170 (GRCm39) |
V27A |
possibly damaging |
Het |
| Gpr157 |
T |
C |
4: 150,186,825 (GRCm39) |
S318P |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,404,337 (GRCm39) |
V405M |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,400,738 (GRCm39) |
R41G |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,467 (GRCm39) |
L791Q |
probably damaging |
Het |
| Hjurp |
T |
G |
1: 88,194,038 (GRCm39) |
K290T |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,363 (GRCm39) |
E773G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,914,685 (GRCm39) |
Y697H |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,846,234 (GRCm39) |
T313A |
probably benign |
Het |
| Lrba |
G |
T |
3: 86,275,902 (GRCm39) |
V1757L |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,306 (GRCm39) |
T278A |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,856,428 (GRCm39) |
I679V |
probably null |
Het |
| Mapk4 |
G |
T |
18: 74,064,073 (GRCm39) |
T383K |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,117,471 (GRCm39) |
V208A |
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,411,603 (GRCm39) |
C3234* |
probably null |
Het |
| Nlrp1b |
G |
T |
11: 71,108,701 (GRCm39) |
Q267K |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,881,922 (GRCm39) |
K37E |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,962,681 (GRCm39) |
M755T |
probably damaging |
Het |
| Or10u4 |
T |
A |
10: 129,802,158 (GRCm39) |
H137L |
probably benign |
Het |
| Or52ac1 |
A |
G |
7: 104,246,028 (GRCm39) |
F120S |
probably damaging |
Het |
| Or5p58 |
A |
G |
7: 107,693,949 (GRCm39) |
V276A |
possibly damaging |
Het |
| Pdlim5 |
C |
T |
3: 142,058,495 (GRCm39) |
R83K |
probably null |
Het |
| Plekha5 |
A |
T |
6: 140,498,459 (GRCm39) |
R173* |
probably null |
Het |
| Pramel25 |
T |
A |
4: 143,521,707 (GRCm39) |
V441E |
possibly damaging |
Het |
| Rbms3 |
T |
A |
9: 117,080,853 (GRCm39) |
D6V |
possibly damaging |
Het |
| Rhoq |
A |
T |
17: 87,271,755 (GRCm39) |
Y57F |
probably benign |
Het |
| Rrm1 |
A |
T |
7: 102,100,230 (GRCm39) |
T204S |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,239,323 (GRCm39) |
I447N |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Spdye4c |
C |
T |
2: 128,438,484 (GRCm39) |
Q281* |
probably null |
Het |
| Tert |
T |
A |
13: 73,792,403 (GRCm39) |
M890K |
probably benign |
Het |
| Tln1 |
C |
A |
4: 43,543,905 (GRCm39) |
R1198L |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,748,178 (GRCm39) |
M253V |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,260 (GRCm39) |
S464T |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,673,928 (GRCm39) |
Y397F |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,466 (GRCm39) |
T144A |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,954,386 (GRCm39) |
H850L |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,682,842 (GRCm39) |
Q3427L |
unknown |
Het |
| Zfp236 |
G |
T |
18: 82,700,281 (GRCm39) |
Q63K |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,775,054 (GRCm39) |
C365* |
probably null |
Het |
| Zfp786 |
T |
C |
6: 47,796,619 (GRCm39) |
E773G |
probably 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 |
|
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'- GGGCAAGCATATTCCTCTTTTAGTC -3'
(R):5'- GCACTTGGAGATAGGGATGC -3'
Sequencing Primer
(F):5'- AGTCCACATATCATGTCCTGC -3'
(R):5'- TGGGTCATCTGGCTCAGCAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation