Incidental Mutation 'R6953:Usp19'
| ID |
541317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
045065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R6953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108367806-108379536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108376130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 991
(L991P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
| AlphaFold |
Q3UJD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006854
AA Change: L991P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: L991P
| 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 |
possibly damaging
Transcript: ENSMUST00000085044
AA Change: L991P
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: L991P
| 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: L967P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: L967P
| 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: L992P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: L992P
| 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: L990P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: L990P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,892,223 (GRCm39) |
S128I |
probably damaging |
Het |
| Aadacl2 |
A |
C |
3: 59,932,181 (GRCm39) |
H232P |
possibly damaging |
Het |
| Abcc3 |
A |
G |
11: 94,265,661 (GRCm39) |
Y125H |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,865,592 (GRCm39) |
S84P |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,192,142 (GRCm39) |
K71* |
probably null |
Het |
| Ap2m1 |
T |
A |
16: 20,361,468 (GRCm39) |
W381R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,762 (GRCm39) |
I426V |
probably benign |
Het |
| BC024063 |
T |
A |
10: 81,943,733 (GRCm39) |
D31E |
possibly damaging |
Het |
| C3ar1 |
G |
A |
6: 122,827,591 (GRCm39) |
H209Y |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,321,644 (GRCm39) |
V433A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,830,540 (GRCm39) |
S1199P |
probably benign |
Het |
| Cyp24a1 |
T |
G |
2: 170,329,866 (GRCm39) |
D362A |
probably benign |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,829,822 (GRCm39) |
Q633K |
probably benign |
Het |
| Ercc4 |
T |
A |
16: 12,948,550 (GRCm39) |
V499D |
probably damaging |
Het |
| Ier3ip1 |
C |
G |
18: 77,027,309 (GRCm39) |
P46R |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,832 (GRCm39) |
T110A |
probably damaging |
Het |
| Isoc1 |
A |
G |
18: 58,804,374 (GRCm39) |
D134G |
possibly damaging |
Het |
| Kif26b |
A |
G |
1: 178,701,637 (GRCm39) |
D672G |
possibly damaging |
Het |
| Klhl33 |
T |
A |
14: 51,128,973 (GRCm39) |
D752V |
possibly damaging |
Het |
| Lcn4 |
A |
G |
2: 26,559,367 (GRCm39) |
Y133H |
probably benign |
Het |
| Mrs2 |
C |
A |
13: 25,185,771 (GRCm39) |
V134L |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,551,825 (GRCm39) |
T4823A |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,093,824 (GRCm39) |
I62T |
probably benign |
Het |
| Or2m13 |
C |
T |
16: 19,226,278 (GRCm39) |
V164I |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,117 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,474 (GRCm39) |
M272K |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,049,299 (GRCm39) |
I296L |
probably benign |
Het |
| Papln |
G |
A |
12: 83,828,659 (GRCm39) |
W788* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,479 (GRCm39) |
Q153R |
probably benign |
Het |
| Pcdhgb2 |
C |
T |
18: 37,823,807 (GRCm39) |
T266I |
possibly damaging |
Het |
| Pcdhgc5 |
C |
A |
18: 37,953,514 (GRCm39) |
R263S |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,662 (GRCm39) |
T185A |
possibly damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,800,882 (GRCm39) |
D114G |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,632,537 (GRCm39) |
I987N |
probably damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,029 (GRCm39) |
M134V |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,779 (GRCm39) |
|
probably null |
Het |
| Racgap1 |
T |
C |
15: 99,524,210 (GRCm39) |
E399G |
probably damaging |
Het |
| Sbspon |
A |
T |
1: 15,930,519 (GRCm39) |
S156T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,149,813 (GRCm39) |
T927A |
probably damaging |
Het |
| Sec23ip |
C |
A |
7: 128,354,520 (GRCm39) |
S78* |
probably null |
Het |
| Serpina1d |
G |
A |
12: 103,733,989 (GRCm39) |
T105I |
probably benign |
Het |
| Slc25a21 |
T |
A |
12: 57,205,954 (GRCm39) |
N26Y |
probably benign |
Het |
| Smim20 |
T |
A |
5: 53,435,258 (GRCm39) |
D64E |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 99,942,291 (GRCm39) |
I772S |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,660,426 (GRCm39) |
T99A |
possibly damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,819,803 (GRCm39) |
T101I |
probably damaging |
Het |
| Tldc2 |
T |
G |
2: 156,931,198 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 187,995,342 (GRCm39) |
R38G |
possibly damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,973 (GRCm39) |
P795S |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,741 (GRCm39) |
Y402H |
probably benign |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,045,095 (GRCm39) |
I504R |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,150,715 (GRCm39) |
C231* |
probably null |
Het |
| Zfp607a |
T |
A |
7: 27,577,790 (GRCm39) |
C287S |
possibly damaging |
Het |
| Zim1 |
T |
A |
7: 6,690,706 (GRCm39) |
T40S |
unknown |
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 |
|
|
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'- TGGCTTTGGAATCGCAGAG -3'
(R):5'- ACTTGAGTGTTGGTACCCAGG -3'
Sequencing Primer
(F):5'- TTTGGAATCGCAGAGCCCTG -3'
(R):5'- AGTGTTGGTACCCAGGCACAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation