Incidental Mutation 'R8175:Usp19'
| ID |
634296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
067600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R8175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108377377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1255
(R1255H)
|
| 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: R1255H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: R1255H
| 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: R1255H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: R1255H
| 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: R1231H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: R1231H
| 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: R1256H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: R1256H
| 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: R1254H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: R1254H
| 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 |
probably damaging
Transcript: ENSMUST00000194171
AA Change: R885H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
C |
T |
9: 30,815,952 (GRCm39) |
V635M |
probably damaging |
Het |
| Aim2 |
A |
T |
1: 173,282,920 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,729,339 (GRCm39) |
V700A |
unknown |
Het |
| Arhgap10 |
T |
C |
8: 78,037,471 (GRCm39) |
T586A |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,849,455 (GRCm39) |
V349I |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,492,170 (GRCm39) |
F569L |
possibly damaging |
Het |
| Btbd10 |
T |
A |
7: 112,921,999 (GRCm39) |
|
probably null |
Het |
| Capza2 |
G |
A |
6: 17,665,381 (GRCm39) |
D270N |
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,929,575 (GRCm39) |
N584D |
probably benign |
Het |
| Coro1c |
T |
A |
5: 113,988,876 (GRCm39) |
I156F |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,350,178 (GRCm39) |
I299T |
probably benign |
Het |
| Cse1l |
T |
A |
2: 166,785,128 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
T |
C |
5: 36,772,814 (GRCm39) |
E527G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,253,710 (GRCm39) |
L149S |
possibly damaging |
Het |
| Ecpas |
C |
T |
4: 58,872,756 (GRCm39) |
V182M |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,241,633 (GRCm39) |
W925L |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,130,396 (GRCm39) |
N1071D |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,809,026 (GRCm39) |
S93T |
probably damaging |
Het |
| Eipr1 |
A |
G |
12: 28,913,106 (GRCm39) |
E269G |
|
Het |
| Eng |
C |
A |
2: 32,568,934 (GRCm39) |
T487K |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,517,361 (GRCm39) |
Y130H |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,019,834 (GRCm39) |
R770* |
probably null |
Het |
| Fam227a |
A |
G |
15: 79,524,861 (GRCm39) |
F201S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,930,847 (GRCm39) |
E108K |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,863,873 (GRCm39) |
C2548* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,638,824 (GRCm39) |
I1971T |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,088 (GRCm39) |
F3607Y |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,818,021 (GRCm39) |
I4585L |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,932 (GRCm39) |
N275S |
|
Het |
| Hus1b |
A |
G |
13: 31,131,215 (GRCm39) |
V148A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,316,365 (GRCm39) |
L575P |
possibly damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,542 (GRCm39) |
F371Y |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,488,496 (GRCm39) |
R860G |
probably damaging |
Het |
| Jade1 |
G |
T |
3: 41,567,723 (GRCm39) |
R597L |
probably benign |
Het |
| Krt4 |
A |
G |
15: 101,828,984 (GRCm39) |
|
probably null |
Het |
| Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,216,496 (GRCm39) |
T824A |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,353,076 (GRCm39) |
C1307* |
probably null |
Het |
| Ndufb10 |
A |
T |
17: 24,943,166 (GRCm39) |
V48E |
possibly damaging |
Het |
| Nelfa |
T |
C |
5: 34,079,357 (GRCm39) |
K72R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,886,786 (GRCm39) |
V7767I |
unknown |
Het |
| Pptc7 |
T |
A |
5: 122,457,882 (GRCm39) |
C284S |
probably benign |
Het |
| Pxdc1 |
A |
G |
13: 34,812,798 (GRCm39) |
S218P |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,775,755 (GRCm39) |
W110R |
probably damaging |
Het |
| Ren1 |
T |
C |
1: 133,282,007 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Ripor3 |
T |
C |
2: 167,825,679 (GRCm39) |
S760G |
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,395,415 (GRCm39) |
E1327G |
unknown |
Het |
| Setd5 |
T |
C |
6: 113,091,874 (GRCm39) |
W232R |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,790 (GRCm39) |
H171Q |
probably damaging |
Het |
| Smoc1 |
A |
G |
12: 81,214,440 (GRCm39) |
D285G |
probably damaging |
Het |
| Taf10 |
T |
C |
7: 105,393,134 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tgfbr2 |
G |
A |
9: 115,939,023 (GRCm39) |
S293L |
possibly damaging |
Het |
| Tmem181a |
A |
G |
17: 6,346,075 (GRCm39) |
I190V |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,435,973 (GRCm39) |
N716D |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,334,855 (GRCm39) |
K157N |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,238,349 (GRCm39) |
I464F |
probably damaging |
Het |
| Zbtb20 |
A |
T |
16: 43,397,443 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
T |
G |
7: 29,529,205 (GRCm39) |
L630R |
possibly 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 |
|
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'- TCTGGGTGAGACCTGAATGTC -3'
Sequencing Primer
(F):5'- CAATGATCGCAGTAGCCAGCG -3'
(R):5'- TGAATGTCGAAGAACCCAGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation