Incidental Mutation 'R6003:Usp19'
ID |
478467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp19
|
Ensembl Gene |
ENSMUSG00000006676 |
Gene Name |
ubiquitin specific peptidase 19 |
Synonyms |
8430421I07Rik |
MMRRC Submission |
043252-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R6003 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108373579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 691
(Y691H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141738
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
AlphaFold |
Q3UJD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006854
AA Change: Y692H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006854 Gene: ENSMUSG00000006676 AA Change: Y692H
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: Y692H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082119 Gene: ENSMUSG00000006676 AA Change: Y692H
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: Y668H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128573 Gene: ENSMUSG00000006676 AA Change: Y668H
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: Y693H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135930 Gene: ENSMUSG00000006676 AA Change: Y693H
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 |
unknown
Transcript: ENSMUST00000194171
AA Change: Y322H
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193678
AA Change: Y691H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141738 Gene: ENSMUSG00000006676 AA Change: Y691H
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: ENSMUST00000193412
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193558
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,312 (GRCm39) |
E157G |
probably benign |
Het |
Abcb11 |
T |
C |
2: 69,073,811 (GRCm39) |
K1238R |
probably benign |
Het |
Ankar |
T |
A |
1: 72,738,046 (GRCm39) |
E45D |
probably damaging |
Het |
Antxrl |
G |
T |
14: 33,797,592 (GRCm39) |
K522N |
possibly damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,011 (GRCm39) |
Y93C |
probably damaging |
Het |
As3mt |
C |
T |
19: 46,696,567 (GRCm39) |
T35M |
possibly damaging |
Het |
Aspg |
T |
C |
12: 112,079,476 (GRCm39) |
S85P |
probably damaging |
Het |
Cachd1 |
T |
C |
4: 100,809,216 (GRCm39) |
S234P |
possibly damaging |
Het |
Ccdc3 |
T |
C |
2: 5,146,218 (GRCm39) |
|
probably null |
Het |
Cnpy1 |
T |
C |
5: 28,450,759 (GRCm39) |
T16A |
probably benign |
Het |
Cope |
T |
C |
8: 70,757,285 (GRCm39) |
L43P |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,520,525 (GRCm39) |
M599V |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,755,319 (GRCm39) |
D954E |
unknown |
Het |
Gfpt1 |
T |
A |
6: 87,065,230 (GRCm39) |
|
probably null |
Het |
Ggps1 |
T |
G |
13: 14,228,587 (GRCm39) |
S145R |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,803,400 (GRCm39) |
D1337G |
probably damaging |
Het |
Gtf2a1l |
G |
T |
17: 89,001,531 (GRCm39) |
G82V |
probably damaging |
Het |
Gucy1b1 |
C |
A |
3: 81,965,584 (GRCm39) |
L87F |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,311 (GRCm39) |
V76A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,129,294 (GRCm39) |
E460G |
probably damaging |
Het |
Kdm4b |
C |
T |
17: 56,703,916 (GRCm39) |
R756W |
probably damaging |
Het |
Lax1 |
T |
A |
1: 133,611,834 (GRCm39) |
I34F |
probably benign |
Het |
Marveld3 |
A |
T |
8: 110,680,960 (GRCm39) |
C312S |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,254 (GRCm39) |
D824G |
possibly damaging |
Het |
Nrxn2 |
C |
A |
19: 6,548,358 (GRCm39) |
A17D |
possibly damaging |
Het |
Nup133 |
A |
T |
8: 124,665,031 (GRCm39) |
I220N |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,189,751 (GRCm39) |
V984A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,570,853 (GRCm39) |
D318E |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,591,151 (GRCm39) |
K94N |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,196 (GRCm39) |
I226N |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,403 (GRCm39) |
S157P |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,763,820 (GRCm39) |
I564V |
probably benign |
Het |
Parpbp |
A |
G |
10: 87,969,020 (GRCm39) |
V142A |
possibly damaging |
Het |
Rdh16f2 |
A |
T |
10: 127,712,201 (GRCm39) |
R219S |
probably benign |
Het |
Rfx6 |
C |
T |
10: 51,584,683 (GRCm39) |
R228C |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,749,767 (GRCm39) |
|
probably null |
Het |
Rskr |
T |
G |
11: 78,183,846 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
T |
C |
16: 36,574,910 (GRCm39) |
I531V |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,097,930 (GRCm39) |
E58G |
possibly damaging |
Het |
Tmem214 |
C |
A |
5: 31,028,068 (GRCm39) |
T96K |
possibly damaging |
Het |
Vmn1r86 |
C |
T |
7: 12,836,125 (GRCm39) |
W200* |
probably null |
Het |
Vmn2r8 |
A |
T |
5: 108,945,248 (GRCm39) |
S786R |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,175,068 (GRCm39) |
M1K |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,714,891 (GRCm39) |
|
probably null |
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 |
|
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'- GGGCTACATGAAGACCTCAATCG -3'
(R):5'- TCTAACCACAGGCACCTTTAGG -3'
Sequencing Primer
(F):5'- CAGAGACTGTGGACTCGGAC -3'
(R):5'- AGGTTCTGCCCAATTCCTC -3'
|
Posted On |
2017-06-26 |