Incidental Mutation 'R5400:Usp19'
ID |
429944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp19
|
Ensembl Gene |
ENSMUSG00000006676 |
Gene Name |
ubiquitin specific peptidase 19 |
Synonyms |
8430421I07Rik |
MMRRC Submission |
042971-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R5400 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108377392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1236
(V1236A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
AlphaFold |
Q3UJD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006854
AA Change: V1260A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006854 Gene: ENSMUSG00000006676 AA Change: V1260A
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: V1260A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082119 Gene: ENSMUSG00000006676 AA Change: V1260A
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 damaging
Transcript: ENSMUST00000166103
AA Change: V1236A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128573 Gene: ENSMUSG00000006676 AA Change: V1236A
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 damaging
Transcript: ENSMUST00000178075
AA Change: V1261A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135930 Gene: ENSMUSG00000006676 AA Change: V1261A
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: ENSMUST00000193412
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193571
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193678
AA Change: V1259A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141738 Gene: ENSMUSG00000006676 AA Change: V1259A
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: ENSMUST00000193975
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194171
AA Change: V890A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
Meta Mutation Damage Score |
0.2357 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
T |
C |
2: 93,689,767 (GRCm39) |
D380G |
probably damaging |
Het |
Afm |
T |
C |
5: 90,699,257 (GRCm39) |
L567P |
possibly damaging |
Het |
Anks1b |
A |
T |
10: 90,348,686 (GRCm39) |
I785L |
probably damaging |
Het |
Arpc5l |
G |
A |
2: 38,903,747 (GRCm39) |
G79S |
probably benign |
Het |
Arvcf |
G |
T |
16: 18,217,820 (GRCm39) |
R440L |
probably benign |
Het |
Atm |
T |
C |
9: 53,414,318 (GRCm39) |
D924G |
probably damaging |
Het |
Atp8b1 |
A |
T |
18: 64,679,060 (GRCm39) |
|
probably null |
Het |
Cd19 |
C |
T |
7: 126,013,624 (GRCm39) |
G55D |
probably benign |
Het |
Cd34 |
A |
G |
1: 194,621,266 (GRCm39) |
|
probably benign |
Het |
Cd69 |
T |
A |
6: 129,246,954 (GRCm39) |
M88L |
probably benign |
Het |
Ces2h |
A |
G |
8: 105,745,057 (GRCm39) |
E397G |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,463,036 (GRCm39) |
F1306L |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,901,514 (GRCm39) |
E1124G |
probably damaging |
Het |
Dio1 |
A |
T |
4: 107,164,185 (GRCm39) |
M44K |
probably damaging |
Het |
Elapor2 |
A |
T |
5: 9,529,247 (GRCm39) |
N1027Y |
probably damaging |
Het |
En1 |
A |
G |
1: 120,531,324 (GRCm39) |
D188G |
probably damaging |
Het |
Epha10 |
C |
T |
4: 124,807,914 (GRCm39) |
|
probably benign |
Het |
Fam120b |
A |
T |
17: 15,623,388 (GRCm39) |
L455F |
possibly damaging |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Incenp |
A |
G |
19: 9,855,039 (GRCm39) |
|
probably null |
Het |
Kansl3 |
A |
G |
1: 36,397,230 (GRCm39) |
V86A |
possibly damaging |
Het |
Klhl7 |
C |
G |
5: 24,331,918 (GRCm39) |
F73L |
probably damaging |
Het |
Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
Mknk1 |
C |
A |
4: 115,721,749 (GRCm39) |
L98M |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,750 (GRCm39) |
L98Q |
probably damaging |
Het |
Myo3b |
T |
A |
2: 69,935,724 (GRCm39) |
C97S |
probably damaging |
Het |
Neto1 |
A |
G |
18: 86,414,033 (GRCm39) |
H9R |
possibly damaging |
Het |
Omd |
A |
T |
13: 49,745,703 (GRCm39) |
E371V |
probably benign |
Het |
Or1n2 |
A |
T |
2: 36,797,833 (GRCm39) |
I292F |
probably damaging |
Het |
Or2w3b |
T |
C |
11: 58,623,146 (GRCm39) |
T282A |
possibly damaging |
Het |
Or4c123 |
T |
C |
2: 89,127,257 (GRCm39) |
D119G |
probably damaging |
Het |
Or51e2 |
G |
A |
7: 102,391,637 (GRCm39) |
T191I |
probably benign |
Het |
Osbpl9 |
G |
T |
4: 108,919,497 (GRCm39) |
Y733* |
probably null |
Het |
Pcdh12 |
A |
T |
18: 38,401,951 (GRCm39) |
S91R |
probably damaging |
Het |
Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,620,219 (GRCm39) |
S198P |
probably damaging |
Het |
Recql |
T |
G |
6: 142,308,073 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,184,712 (GRCm39) |
D1601G |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,438,100 (GRCm39) |
D1922G |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,598,974 (GRCm39) |
R1185S |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,082,432 (GRCm39) |
S399P |
possibly damaging |
Het |
Slc13a4 |
A |
T |
6: 35,278,777 (GRCm39) |
C37* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc9a9 |
T |
A |
9: 94,594,954 (GRCm39) |
F155I |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,614,367 (GRCm39) |
K1193M |
probably damaging |
Het |
Swt1 |
T |
C |
1: 151,288,585 (GRCm39) |
T80A |
probably benign |
Het |
Tmc1 |
A |
G |
19: 20,781,966 (GRCm39) |
I584T |
probably damaging |
Het |
Tsc22d1 |
C |
A |
14: 76,654,494 (GRCm39) |
F324L |
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
Wrn |
C |
T |
8: 33,784,945 (GRCm39) |
V476I |
probably benign |
Het |
Zbed6 |
G |
A |
1: 133,585,879 (GRCm39) |
T486I |
probably damaging |
Het |
Zbtb25 |
C |
A |
12: 76,396,476 (GRCm39) |
E249* |
probably null |
Het |
Zfp54 |
C |
A |
17: 21,653,962 (GRCm39) |
T152K |
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 |
|
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 |
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'- TGCCCAATGATCGCAGTAGC -3'
(R):5'- CTCTGGGTGAGACCTGAATG -3'
Sequencing Primer
(F):5'- CAATGATCGCAGTAGCCAGCG -3'
(R):5'- TGAATGTCGAAGAACCCAGTC -3'
|
Posted On |
2016-09-06 |