Incidental Mutation 'PIT4504001:Usp19'
| ID |
556014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
PIT4504001 (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 108370169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 43
(S43T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000065014]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
| AlphaFold |
Q3UJD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006854
AA Change: S43T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: S43T
| 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
AA Change: S43T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: S43T
| 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
AA Change: S43T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: S43T
| 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
AA Change: S43T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: S43T
| 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 |
probably benign
Transcript: ENSMUST00000193678
AA Change: S43T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: S43T
| 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 benign
Transcript: ENSMUST00000194171
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194863
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,356,706 (GRCm39) |
I116T |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,716,846 (GRCm39) |
V154F |
possibly damaging |
Het |
| Ect2 |
G |
A |
3: 27,181,097 (GRCm39) |
R586* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
| Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
| Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,054,864 (GRCm39) |
V649D |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,403,579 (GRCm39) |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
| Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,397 (GRCm39) |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
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 |
|
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 |
|
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'- GGCTTCCCTTATCACTGGAC -3'
(R):5'- TCTGCCTCCAATCGAGCAAC -3'
Sequencing Primer
(F):5'- TCACTGGACATGCAAGTATTGG -3'
(R):5'- TCGAGCAACAATTCTACAGGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation