Incidental Mutation 'R5934:Usp19'
| ID |
462115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
044128-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R5934 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 108369766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000065014]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
| AlphaFold |
Q3UJD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006854
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
| 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 |
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: ENSMUST00000192854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193183
|
| 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: ENSMUST00000193301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194171
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193558
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,980,806 (GRCm39) |
V596A |
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,194,682 (GRCm39) |
T370M |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,717,678 (GRCm39) |
T118A |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,084,940 (GRCm39) |
A379V |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,299 (GRCm39) |
|
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,266 (GRCm39) |
D66E |
probably benign |
Het |
| Cdh5 |
T |
A |
8: 104,864,900 (GRCm39) |
V506E |
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Ckb |
A |
T |
12: 111,636,663 (GRCm39) |
V237D |
probably damaging |
Het |
| Col6a6 |
C |
T |
9: 105,644,274 (GRCm39) |
D1306N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,243,140 (GRCm39) |
S19P |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,931,928 (GRCm39) |
D3681E |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,495 (GRCm39) |
Y2068* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,248,060 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,817,092 (GRCm39) |
C4275Y |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,664 (GRCm39) |
V202A |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,897,367 (GRCm39) |
I250M |
possibly damaging |
Het |
| Gpr88 |
C |
T |
3: 116,045,958 (GRCm39) |
G118R |
probably damaging |
Het |
| Hdhd3 |
C |
A |
4: 62,417,607 (GRCm39) |
V190L |
possibly damaging |
Het |
| Heg1 |
C |
T |
16: 33,547,289 (GRCm39) |
T461M |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,246,083 (GRCm39) |
Y989C |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,520,971 (GRCm39) |
M175L |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,414 (GRCm39) |
R101Q |
possibly damaging |
Het |
| Kif20b |
G |
T |
19: 34,918,721 (GRCm39) |
V702F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,360,651 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,618,249 (GRCm39) |
V916A |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,655 (GRCm39) |
C137S |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,160,535 (GRCm39) |
D589E |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,979,017 (GRCm39) |
C464R |
probably damaging |
Het |
| Mucl2 |
A |
T |
15: 103,927,832 (GRCm39) |
S42T |
probably benign |
Het |
| Musk |
T |
A |
4: 58,373,613 (GRCm39) |
L838Q |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,074,510 (GRCm39) |
H1052R |
probably damaging |
Het |
| Or10d4b |
C |
T |
9: 39,534,479 (GRCm39) |
T20I |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,874,293 (GRCm39) |
R303G |
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,280 (GRCm39) |
I234N |
probably benign |
Het |
| Or2at1 |
A |
T |
7: 99,416,596 (GRCm39) |
I76F |
probably damaging |
Het |
| Or4d2 |
T |
C |
11: 87,784,049 (GRCm39) |
R234G |
possibly damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,385 (GRCm39) |
C242F |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,867 (GRCm39) |
S211F |
probably benign |
Het |
| Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
| Or8u8 |
T |
A |
2: 86,012,446 (GRCm39) |
Q3L |
probably benign |
Het |
| Pard3 |
T |
G |
8: 128,115,819 (GRCm39) |
L636R |
probably damaging |
Het |
| Pigr |
A |
T |
1: 130,772,264 (GRCm39) |
S161C |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,029,369 (GRCm39) |
S325P |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,060 (GRCm39) |
V1992E |
probably damaging |
Het |
| Psma5-ps |
T |
C |
10: 85,150,145 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,845 (GRCm39) |
K468E |
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,503,297 (GRCm39) |
T37A |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,575,245 (GRCm39) |
K571I |
probably damaging |
Het |
| Reck |
G |
A |
4: 43,930,979 (GRCm39) |
G660D |
probably damaging |
Het |
| Rgs4 |
T |
C |
1: 169,572,807 (GRCm39) |
D43G |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,599,040 (GRCm39) |
D4645E |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,550,102 (GRCm39) |
S639P |
probably damaging |
Het |
| Slc27a4 |
G |
T |
2: 29,701,672 (GRCm39) |
R430L |
probably damaging |
Het |
| Slfn1 |
T |
A |
11: 83,012,770 (GRCm39) |
Y295* |
probably null |
Het |
| Slfn5 |
C |
T |
11: 82,847,418 (GRCm39) |
S101L |
probably damaging |
Het |
| Sult1d1 |
CCATG |
CCATGGCATG |
5: 87,707,629 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
T |
3: 93,351,419 (GRCm39) |
Q286H |
unknown |
Het |
| Tmem184c |
A |
T |
8: 78,331,352 (GRCm39) |
Y172* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,656,266 (GRCm39) |
M833R |
possibly damaging |
Het |
| Ugt1a7c |
G |
T |
1: 88,023,601 (GRCm39) |
L253F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,355,148 (GRCm39) |
I3303K |
possibly damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,757 (GRCm39) |
A260T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,880,642 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
| Posted On |
2017-02-28 |
Incidental Mutation