Incidental Mutation 'R9731:Usp19'
| ID |
731411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R9731 (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 A
at 108376885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1153
(S1153T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
| AlphaFold |
Q3UJD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006854
AA Change: S1153T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: S1153T
| 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: S1153T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: S1153T
| 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: S1129T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: S1129T
| 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: S1154T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: S1154T
| 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 damaging
Transcript: ENSMUST00000193678
AA Change: S1152T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: S1152T
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
T |
G |
4: 109,362,918 (GRCm39) |
S134R |
probably damaging |
Het |
| A930033H14Rik |
T |
A |
10: 69,048,679 (GRCm39) |
R53W |
unknown |
Het |
| Abca9 |
G |
T |
11: 110,025,024 (GRCm39) |
D1006E |
probably benign |
Het |
| Abcc6 |
T |
A |
7: 45,669,660 (GRCm39) |
R132* |
probably null |
Het |
| Ankrd40 |
C |
T |
11: 94,229,250 (GRCm39) |
T283I |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,092 (GRCm39) |
K125E |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,346,404 (GRCm39) |
L527F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,245,262 (GRCm39) |
N1065D |
possibly damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ddx54 |
C |
T |
5: 120,758,807 (GRCm39) |
A350V |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,333 (GRCm39) |
V80I |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 148,970,138 (GRCm39) |
T127I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,168,589 (GRCm39) |
Q445K |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,141,166 (GRCm39) |
H1287R |
probably benign |
Het |
| Enpp7 |
G |
A |
11: 118,879,151 (GRCm39) |
G37R |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,061,233 (GRCm39) |
T554A |
probably benign |
Het |
| Fgf8 |
T |
C |
19: 45,730,846 (GRCm39) |
N60D |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,588,299 (GRCm39) |
M1V |
probably null |
Het |
| Glra3 |
G |
T |
8: 56,542,058 (GRCm39) |
R267L |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,738,598 (GRCm39) |
R1455H |
probably damaging |
Het |
| Grk6 |
C |
A |
13: 55,607,640 (GRCm39) |
P575T |
possibly damaging |
Het |
| Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
| Hpse |
G |
A |
5: 100,842,022 (GRCm39) |
H288Y |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,794,826 (GRCm39) |
R506* |
probably null |
Het |
| Ing1 |
C |
A |
8: 11,611,649 (GRCm39) |
T123N |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,125,823 (GRCm39) |
D27G |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,577,956 (GRCm39) |
D773E |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,880,888 (GRCm39) |
D516G |
probably benign |
Het |
| Lrsam1 |
A |
G |
2: 32,835,452 (GRCm39) |
|
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Meak7 |
C |
A |
8: 120,498,010 (GRCm39) |
A165S |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,158 (GRCm39) |
*186W |
probably null |
Het |
| Ndufaf5 |
C |
T |
2: 140,012,807 (GRCm39) |
A59V |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,886,369 (GRCm39) |
L281S |
probably damaging |
Het |
| Or10a4 |
T |
G |
7: 106,696,786 (GRCm39) |
V38G |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,774,316 (GRCm39) |
I48F |
possibly damaging |
Het |
| Or8b37 |
A |
T |
9: 37,958,892 (GRCm39) |
I125F |
probably damaging |
Het |
| Otogl |
G |
T |
10: 107,735,328 (GRCm39) |
T152K |
probably damaging |
Het |
| Oxgr1 |
C |
T |
14: 120,260,094 (GRCm39) |
V38I |
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,043 (GRCm39) |
T142M |
possibly damaging |
Het |
| Pou6f1 |
C |
T |
15: 100,476,206 (GRCm39) |
R560Q |
possibly damaging |
Het |
| Ptgr3 |
T |
G |
18: 84,113,128 (GRCm39) |
V268G |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,544,242 (GRCm39) |
E166G |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,528,784 (GRCm39) |
Y308* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,594 (GRCm39) |
|
probably benign |
Het |
| Rras2 |
A |
C |
7: 113,659,593 (GRCm39) |
I57S |
probably damaging |
Het |
| Scn1b |
C |
T |
7: 30,824,596 (GRCm39) |
V31M |
probably damaging |
Het |
| Sema6d |
G |
A |
2: 124,506,117 (GRCm39) |
A642T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,835,543 (GRCm39) |
T940S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,904,126 (GRCm39) |
Q4* |
probably null |
Het |
| Slc44a2 |
T |
A |
9: 21,263,770 (GRCm39) |
I646N |
possibly damaging |
Het |
| Sprtn |
C |
A |
8: 125,629,704 (GRCm39) |
Y332* |
probably null |
Het |
| Srpk1 |
A |
G |
17: 28,825,297 (GRCm39) |
I125T |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,786,068 (GRCm39) |
H451Y |
probably benign |
Het |
| Tec |
G |
A |
5: 72,939,439 (GRCm39) |
T192M |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trim25 |
C |
A |
11: 88,906,391 (GRCm39) |
P405T |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,054 (GRCm39) |
D952G |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,566,486 (GRCm39) |
D635G |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,461,683 (GRCm39) |
E98G |
possibly damaging |
Het |
| Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,361 (GRCm39) |
L632M |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,826,526 (GRCm39) |
T1389I |
probably benign |
Het |
| Wasf1 |
T |
A |
10: 40,806,731 (GRCm39) |
Y125N |
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 |
|
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 |
|
RF041:Usp19
|
UTSW |
9 |
108,371,187 (GRCm39) |
critical splice acceptor site |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTCTTTACACGGCCTGAAG -3'
(R):5'- TGCTCAAGTCCAGGTTCCTG -3'
Sequencing Primer
(F):5'- CTTTACACGGCCTGAAGTGCTG -3'
(R):5'- TTCCTGTAGTCCCAGTCAGAGAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation