Incidental Mutation 'R9142:Usp19'
ID |
694399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp19
|
Ensembl Gene |
ENSMUSG00000006676 |
Gene Name |
ubiquitin specific peptidase 19 |
Synonyms |
8430421I07Rik |
MMRRC Submission |
068934-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R9142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108372284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 447
(D447G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000065014]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
AlphaFold |
Q3UJD6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006854
AA Change: D447G
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000006854 Gene: ENSMUSG00000006676 AA Change: D447G
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: ENSMUST00000065014
|
SMART Domains |
Protein: ENSMUSP00000069087 Gene: ENSMUSG00000052911
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
LamNT
|
44 |
284 |
1.9e-102 |
SMART |
EGF_Lam
|
286 |
347 |
1.34e-6 |
SMART |
EGF_Lam
|
350 |
410 |
6.1e-10 |
SMART |
EGF_Lam
|
413 |
470 |
2.98e-13 |
SMART |
EGF_Lam
|
473 |
522 |
7.93e-9 |
SMART |
EGF_Lam
|
525 |
569 |
1.01e-10 |
SMART |
EGF_Lam
|
784 |
829 |
3.42e-13 |
SMART |
EGF_Lam
|
832 |
875 |
6.54e-10 |
SMART |
EGF_Lam
|
878 |
925 |
1.34e-6 |
SMART |
EGF_Lam
|
928 |
984 |
4.74e-7 |
SMART |
EGF_Lam
|
987 |
1036 |
1.53e-10 |
SMART |
EGF_Lam
|
1039 |
1093 |
6.29e-12 |
SMART |
EGF_Lam
|
1096 |
1141 |
1.79e-7 |
SMART |
EGF_Lam
|
1144 |
1188 |
6.64e-11 |
SMART |
coiled coil region
|
1261 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1445 |
1458 |
N/A |
INTRINSIC |
coiled coil region
|
1473 |
1527 |
N/A |
INTRINSIC |
low complexity region
|
1609 |
1625 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
1632 |
1786 |
5e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085044
AA Change: D447G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000082119 Gene: ENSMUSG00000006676 AA Change: D447G
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: D423G
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128573 Gene: ENSMUSG00000006676 AA Change: D423G
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 |
|
SMART Domains |
Protein: ENSMUSP00000135930 Gene: ENSMUSG00000006676 AA Change: D448G
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: D446G
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141738 Gene: ENSMUSG00000006676 AA Change: D446G
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprs |
C |
A |
4: 126,215,360 (GRCm39) |
G35V |
probably damaging |
Het |
Apob |
A |
C |
12: 8,062,705 (GRCm39) |
D3729A |
possibly damaging |
Het |
App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
Arid3a |
T |
C |
10: 79,787,612 (GRCm39) |
S550P |
unknown |
Het |
Armc2 |
T |
G |
10: 41,851,404 (GRCm39) |
E259D |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,729,364 (GRCm39) |
D566G |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,474,111 (GRCm39) |
C12R |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cc2d2b |
C |
T |
19: 40,753,845 (GRCm39) |
R123* |
probably null |
Het |
Cdc37l1 |
T |
A |
19: 28,989,402 (GRCm39) |
H286Q |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,820,097 (GRCm39) |
L1239Q |
possibly damaging |
Het |
Cfap58 |
T |
C |
19: 47,974,993 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,706,566 (GRCm39) |
D2789E |
unknown |
Het |
Ctnna2 |
G |
T |
6: 76,879,423 (GRCm39) |
|
probably benign |
Het |
Dazl |
A |
G |
17: 50,590,178 (GRCm39) |
V271A |
probably benign |
Het |
Dennd4c |
A |
T |
4: 86,755,637 (GRCm39) |
N1610Y |
probably benign |
Het |
Dusp13b |
T |
A |
14: 21,792,756 (GRCm39) |
K56N |
probably benign |
Het |
Erbb2 |
T |
A |
11: 98,312,884 (GRCm39) |
I149N |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,388,552 (GRCm39) |
C217S |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,985,413 (GRCm39) |
C122R |
probably damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,344,298 (GRCm39) |
I182N |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,730,886 (GRCm39) |
N381S |
possibly damaging |
Het |
Gja3 |
T |
C |
14: 57,274,048 (GRCm39) |
E108G |
probably benign |
Het |
Gm40460 |
C |
A |
7: 141,794,499 (GRCm39) |
G106V |
unknown |
Het |
Gm9736 |
A |
G |
10: 77,586,849 (GRCm39) |
C114R |
unknown |
Het |
Gpbp1 |
A |
T |
13: 111,563,033 (GRCm39) |
D492E |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,312 (GRCm39) |
V219A |
possibly damaging |
Het |
Gtf2e1 |
C |
T |
16: 37,356,364 (GRCm39) |
R56Q |
probably benign |
Het |
H2ac10 |
T |
C |
13: 23,718,151 (GRCm39) |
L24P |
probably damaging |
Het |
Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
Kat6a |
T |
A |
8: 23,430,072 (GRCm39) |
M1809K |
unknown |
Het |
Kdm2b |
A |
T |
5: 123,127,112 (GRCm39) |
|
probably benign |
Het |
Kif7 |
A |
T |
7: 79,356,585 (GRCm39) |
M702K |
probably benign |
Het |
Lrrtm4 |
T |
A |
6: 79,999,426 (GRCm39) |
N279K |
probably damaging |
Het |
Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,831,195 (GRCm39) |
I444T |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,362,315 (GRCm39) |
S1497R |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,366,688 (GRCm39) |
I1607N |
probably damaging |
Het |
Nrde2 |
G |
T |
12: 100,117,518 (GRCm39) |
T47K |
probably benign |
Het |
Or5w12 |
C |
T |
2: 87,502,313 (GRCm39) |
V133I |
probably benign |
Het |
Or6b2b |
T |
G |
1: 92,419,411 (GRCm39) |
E22A |
probably benign |
Het |
Or6c1 |
T |
C |
10: 129,518,285 (GRCm39) |
T108A |
probably benign |
Het |
Ppargc1a |
G |
A |
5: 51,652,146 (GRCm39) |
T184I |
possibly damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,173,920 (GRCm39) |
D296G |
probably damaging |
Het |
Prl7c1 |
C |
T |
13: 27,964,751 (GRCm39) |
|
probably benign |
Het |
Prss42 |
G |
T |
9: 110,628,228 (GRCm39) |
R124L |
possibly damaging |
Het |
Psmd1 |
T |
G |
1: 86,064,817 (GRCm39) |
Y950D |
probably damaging |
Het |
Ptprr |
A |
T |
10: 116,024,119 (GRCm39) |
L250F |
possibly damaging |
Het |
Rabgef1 |
T |
A |
5: 130,237,554 (GRCm39) |
M208K |
possibly damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,437,793 (GRCm39) |
Y17C |
probably damaging |
Het |
Scart2 |
T |
A |
7: 139,877,806 (GRCm39) |
D929E |
probably damaging |
Het |
Sec23ip |
T |
A |
7: 128,363,226 (GRCm39) |
C463S |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,379,710 (GRCm39) |
T368A |
probably damaging |
Het |
Sez6l |
C |
T |
5: 112,609,083 (GRCm39) |
A589T |
probably benign |
Het |
Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
Spag5 |
T |
A |
11: 78,192,823 (GRCm39) |
Y52N |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,788,548 (GRCm39) |
S494L |
unknown |
Het |
Top3b |
T |
C |
16: 16,701,299 (GRCm39) |
Y204H |
probably damaging |
Het |
Trim43b |
C |
T |
9: 88,973,452 (GRCm39) |
V94M |
possibly damaging |
Het |
Trps1 |
T |
G |
15: 50,524,658 (GRCm39) |
I1091L |
probably damaging |
Het |
Ttk |
G |
A |
9: 83,725,741 (GRCm39) |
R221Q |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,549,466 (GRCm39) |
M31737R |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,335,125 (GRCm39) |
L495* |
probably null |
Het |
Zdhhc2 |
A |
G |
8: 40,920,563 (GRCm39) |
E274G |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,350,935 (GRCm39) |
Y1595F |
probably damaging |
Het |
Zfp932 |
A |
T |
5: 110,157,520 (GRCm39) |
H406L |
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 |
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 |
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'- TCGATATCTGCCTCCGGAAG -3'
(R):5'- GATTCTTACCGAGGCCAAGTGTG -3'
Sequencing Primer
(F):5'- TCCGGAAGCGGCAGAGTC -3'
(R):5'- CCAAGTGTGGGTCTGGC -3'
|
Posted On |
2022-01-20 |