Incidental Mutation 'R0138:Usp19'
| ID |
22115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
038423-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R0138 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
9 |
| Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108378514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 1326
(P1326Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
| AlphaFold |
Q3UJD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006854
AA Change: P1326Q
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: P1326Q
| 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
|
| 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 benign
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 benign
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: ENSMUST00000193571
|
| Predicted Effect |
probably benign
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: ENSMUST00000193975
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194171
AA Change: P956Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
| Meta Mutation Damage Score |
0.1599 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
97% (76/78) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,899,098 (GRCm39) |
N693K |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,841,454 (GRCm39) |
V845D |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,819,896 (GRCm39) |
F269Y |
probably benign |
Het |
| Anxa8 |
T |
A |
14: 33,819,897 (GRCm39) |
F295L |
possibly damaging |
Het |
| Aox4 |
C |
G |
1: 58,268,025 (GRCm39) |
L202V |
probably damaging |
Het |
| Ap3s2 |
A |
G |
7: 79,559,617 (GRCm39) |
V104A |
probably benign |
Het |
| Aqp3 |
G |
A |
4: 41,094,843 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
C |
T |
3: 62,355,680 (GRCm39) |
H751Y |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,331 (GRCm39) |
Q291L |
possibly damaging |
Het |
| Bap1 |
T |
C |
14: 30,978,681 (GRCm39) |
Y31H |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,924,759 (GRCm39) |
V655D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,238,820 (GRCm39) |
S663P |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,744,693 (GRCm39) |
D357G |
probably benign |
Het |
| Cfap36 |
T |
C |
11: 29,194,073 (GRCm39) |
T90A |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,330,134 (GRCm39) |
D803V |
probably damaging |
Het |
| Clnk |
C |
A |
5: 38,931,951 (GRCm39) |
|
probably benign |
Het |
| Cyp46a1 |
A |
G |
12: 108,317,470 (GRCm39) |
N158S |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,160,080 (GRCm39) |
I98T |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dll3 |
T |
A |
7: 28,000,746 (GRCm39) |
D103V |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,629,814 (GRCm39) |
M446K |
possibly damaging |
Het |
| Dppa4 |
A |
T |
16: 48,111,425 (GRCm39) |
T85S |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,494,095 (GRCm39) |
H57L |
probably damaging |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,663,269 (GRCm39) |
Q1073L |
possibly damaging |
Het |
| Foxp4 |
T |
C |
17: 48,180,104 (GRCm39) |
D599G |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,675,456 (GRCm39) |
V128A |
possibly damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,926,935 (GRCm39) |
D608N |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,350,317 (GRCm39) |
|
probably benign |
Het |
| Gm5148 |
T |
C |
3: 37,768,926 (GRCm39) |
E98G |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,936,428 (GRCm39) |
I116V |
probably benign |
Het |
| Hic1 |
T |
C |
11: 75,058,169 (GRCm39) |
N240S |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,241,445 (GRCm39) |
T322I |
probably damaging |
Het |
| Hs3st4 |
A |
T |
7: 123,996,416 (GRCm39) |
M361L |
probably benign |
Het |
| Ifrd1 |
A |
G |
12: 40,257,129 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,319 (GRCm39) |
C173S |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,213,524 (GRCm39) |
V65E |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,092,267 (GRCm39) |
D357E |
possibly damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,901,345 (GRCm39) |
V550E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,334,540 (GRCm39) |
Y1490H |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,174,281 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
A |
8: 75,847,508 (GRCm39) |
V435D |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,975,831 (GRCm39) |
R478C |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,959,817 (GRCm39) |
|
probably benign |
Het |
| Mrpl4 |
T |
C |
9: 20,919,888 (GRCm39) |
Y280H |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,687,892 (GRCm39) |
E61G |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,551,827 (GRCm39) |
Y337H |
possibly damaging |
Het |
| Myo7b |
T |
A |
18: 32,143,204 (GRCm39) |
T165S |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,685,138 (GRCm39) |
R81W |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,051,030 (GRCm39) |
|
probably benign |
Het |
| Neto2 |
A |
G |
8: 86,367,673 (GRCm39) |
I357T |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,607 (GRCm39) |
S3P |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,214,210 (GRCm39) |
I261L |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,863 (GRCm39) |
I54T |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,355,267 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
A |
5: 36,361,975 (GRCm39) |
V189E |
probably damaging |
Het |
| Ptdss2 |
T |
G |
7: 140,735,232 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,307,322 (GRCm39) |
C661R |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,595,380 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,279,426 (GRCm39) |
T696A |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,377,982 (GRCm39) |
H87Q |
probably benign |
Het |
| Serpinb11 |
T |
A |
1: 107,305,260 (GRCm39) |
M212K |
probably damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,183,885 (GRCm39) |
T248K |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,701,679 (GRCm39) |
|
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,627 (GRCm39) |
H32Q |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,818,600 (GRCm39) |
V1412E |
possibly damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,596 (GRCm39) |
M307K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,048 (GRCm39) |
T616S |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,637,863 (GRCm39) |
T2406I |
possibly damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,053 (GRCm39) |
M328L |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,736,423 (GRCm39) |
F340S |
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 |
|
|
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'- GGGCTTACACCCAGTTACCTTGATG -3'
(R):5'- CCCAGAGTTGTTTCCCACCACAAAG -3'
Sequencing Primer
(F):5'- GTCTCAGGGAAACTGGGC -3'
(R):5'- TTGTTTCCCACCACAAAGGTAGG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation