Incidental Mutation 'R0053:Usp19'
ID |
64331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp19
|
Ensembl Gene |
ENSMUSG00000006676 |
Gene Name |
ubiquitin specific peptidase 19 |
Synonyms |
8430421I07Rik |
MMRRC Submission |
038347-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R0053 (G1)
|
Quality Score |
118 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 108374369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
AlphaFold |
Q3UJD6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006854
|
SMART Domains |
Protein: ENSMUSP00000006854 Gene: ENSMUSG00000006676
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 null
Transcript: ENSMUST00000085044
|
SMART Domains |
Protein: ENSMUSP00000082119 Gene: ENSMUSG00000006676
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 null
Transcript: ENSMUST00000166103
|
SMART Domains |
Protein: ENSMUSP00000128573 Gene: ENSMUSG00000006676
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 null
Transcript: ENSMUST00000178075
|
SMART Domains |
Protein: ENSMUSP00000135930 Gene: ENSMUSG00000006676
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 |
noncoding transcript
Transcript: ENSMUST00000194225
|
Predicted Effect |
probably null
Transcript: ENSMUST00000194863
|
Predicted Effect |
probably null
Transcript: ENSMUST00000194863
|
Predicted Effect |
probably null
Transcript: ENSMUST00000194171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195763
|
Predicted Effect |
probably null
Transcript: ENSMUST00000193678
|
SMART Domains |
Protein: ENSMUSP00000141738 Gene: ENSMUSG00000006676
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: ENSMUST00000193571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193558
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
Validation Efficiency |
100% (67/67) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCCCATCAAGGTGAGTAACCAG -3'
(R):5'- TCACTGACCCTCCATAAGGAACGG -3'
Sequencing Primer
(F):5'- GTGAGTAACCAGCCCCCTTC -3'
(R):5'- tgggaggcagaggcagg -3'
|
Posted On |
2013-08-06 |