Incidental Mutation 'R4275:Usp19'
| ID |
324759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp19
|
| Ensembl Gene |
ENSMUSG00000006676 |
| Gene Name |
ubiquitin specific peptidase 19 |
| Synonyms |
8430421I07Rik |
| MMRRC Submission |
041646-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R4275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108490602-108502337 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 108498694 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 911
(V911G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006854]
[ENSMUST00000085044]
[ENSMUST00000166103]
[ENSMUST00000178075]
[ENSMUST00000193678]
|
| AlphaFold |
Q3UJD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006854
AA Change: V912G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006854
Gene: ENSMUSG00000006676
AA Change: V912G
| 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: V912G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082119
Gene: ENSMUSG00000006676
AA Change: V912G
| 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: V888G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128573
Gene: ENSMUSG00000006676
AA Change: V888G
| 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: V913G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135930
Gene: ENSMUSG00000006676
AA Change: V913G
| 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 |
noncoding transcript
Transcript: ENSMUST00000193412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193571
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193678
AA Change: V911G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141738
Gene: ENSMUSG00000006676
AA Change: V911G
| 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 |
unknown
Transcript: ENSMUST00000194863
AA Change: V161G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194225
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194171
AA Change: V542G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195763
|
| Meta Mutation Damage Score |
0.5473 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (43/44) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1e |
T |
C |
1: 154,493,325 |
Y322C |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,270,876 |
V1462A |
probably benign |
Het |
| D3Ertd751e |
C |
A |
3: 41,756,154 |
|
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,843,227 |
A152V |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,332,278 |
N68K |
probably benign |
Het |
| Fam126b |
T |
C |
1: 58,529,933 |
T440A |
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,321,307 |
L43F |
probably damaging |
Het |
| Fbxl5 |
T |
A |
5: 43,762,772 |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,518,940 |
R1010C |
probably damaging |
Het |
| Igf2 |
T |
C |
7: 142,655,786 |
M46V |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,767,779 |
Y367N |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,458,995 |
W647R |
probably damaging |
Het |
| Mettl21c |
C |
T |
1: 44,010,556 |
V110I |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 12,877,227 |
L118P |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,297,102 |
T127A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,751,940 |
|
probably null |
Het |
| Nadk |
T |
A |
4: 155,584,255 |
Y128N |
probably benign |
Het |
| Olfr1089 |
T |
C |
2: 86,733,592 |
T7A |
probably damaging |
Het |
| Olfr996 |
T |
C |
2: 85,579,863 |
V208A |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,868,378 |
I500T |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,058,384 |
C4032S |
probably benign |
Het |
| Rnase1 |
A |
T |
14: 51,145,870 |
L9Q |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 94,649,761 |
V304L |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,313,803 |
R643L |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,947,142 |
|
probably null |
Het |
| Serpina3m |
T |
A |
12: 104,389,116 |
I14N |
probably damaging |
Het |
| Smg6 |
A |
C |
11: 74,993,874 |
|
probably benign |
Het |
| Suz12 |
T |
C |
11: 80,030,053 |
M593T |
probably damaging |
Het |
| Tmem139 |
A |
G |
6: 42,264,105 |
E208G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,698,231 |
Y2200C |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,664,618 |
L245P |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,228,640 |
I92F |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,671,728 |
V978A |
probably damaging |
Het |
| Zfp651 |
T |
A |
9: 121,766,539 |
V576D |
probably damaging |
Het |
|
| Other mutations in Usp19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Usp19
|
APN |
9 |
108498961 |
missense |
possibly damaging |
0.79 |
|
IGL02345:Usp19
|
APN |
9 |
108493858 |
missense |
probably benign |
|
|
IGL03026:Usp19
|
APN |
9 |
108493145 |
missense |
probably damaging |
1.00 |
|
IGL03057:Usp19
|
APN |
9 |
108499130 |
missense |
probably benign |
0.01 |
|
IGL03073:Usp19
|
APN |
9 |
108495803 |
unclassified |
probably benign |
|
|
IGL03333:Usp19
|
APN |
9 |
108494149 |
missense |
probably benign |
0.05 |
|
PIT4504001:Usp19
|
UTSW |
9 |
108492970 |
missense |
probably benign |
0.00 |
|
PIT4576001:Usp19
|
UTSW |
9 |
108492732 |
critical splice donor site |
probably null |
|
|
R0053:Usp19
|
UTSW |
9 |
108497170 |
splice site |
probably null |
|
|
R0053:Usp19
|
UTSW |
9 |
108497170 |
splice site |
probably null |
|
|
R0138:Usp19
|
UTSW |
9 |
108501315 |
missense |
possibly damaging |
0.86 |
|
R0281:Usp19
|
UTSW |
9 |
108498509 |
missense |
probably damaging |
1.00 |
|
R0386:Usp19
|
UTSW |
9 |
108499711 |
missense |
probably damaging |
1.00 |
|
R0454:Usp19
|
UTSW |
9 |
108494240 |
critical splice donor site |
probably null |
|
|
R0506:Usp19
|
UTSW |
9 |
108494487 |
missense |
probably damaging |
1.00 |
|
R0542:Usp19
|
UTSW |
9 |
108494385 |
splice site |
probably null |
|
|
R0800:Usp19
|
UTSW |
9 |
108495154 |
missense |
probably damaging |
0.97 |
|
R0829:Usp19
|
UTSW |
9 |
108493801 |
missense |
probably benign |
|
|
R1594:Usp19
|
UTSW |
9 |
108498522 |
missense |
probably damaging |
1.00 |
|
R1917:Usp19
|
UTSW |
9 |
108499325 |
nonsense |
probably null |
|
|
R3744:Usp19
|
UTSW |
9 |
108500181 |
missense |
probably damaging |
1.00 |
|
R3964:Usp19
|
UTSW |
9 |
108498029 |
missense |
probably damaging |
1.00 |
|
R4789:Usp19
|
UTSW |
9 |
108493234 |
missense |
possibly damaging |
0.75 |
|
R5247:Usp19
|
UTSW |
9 |
108496065 |
splice site |
probably null |
|
|
R5249:Usp19
|
UTSW |
9 |
108492608 |
start codon destroyed |
probably null |
0.85 |
|
R5400:Usp19
|
UTSW |
9 |
108500193 |
missense |
probably damaging |
1.00 |
|
R5445:Usp19
|
UTSW |
9 |
108497920 |
missense |
possibly damaging |
0.61 |
|
R5578:Usp19
|
UTSW |
9 |
108493440 |
missense |
probably benign |
|
|
R5934:Usp19
|
UTSW |
9 |
108492567 |
unclassified |
probably benign |
|
|
R6003:Usp19
|
UTSW |
9 |
108496380 |
missense |
probably damaging |
1.00 |
|
R6217:Usp19
|
UTSW |
9 |
108500144 |
missense |
probably damaging |
1.00 |
|
R6230:Usp19
|
UTSW |
9 |
108501941 |
missense |
probably damaging |
0.99 |
|
R6505:Usp19
|
UTSW |
9 |
108496883 |
missense |
probably damaging |
1.00 |
|
R6585:Usp19
|
UTSW |
9 |
108499727 |
missense |
probably damaging |
0.97 |
|
R6865:Usp19
|
UTSW |
9 |
108498819 |
nonsense |
probably null |
|
|
R6953:Usp19
|
UTSW |
9 |
108498931 |
missense |
possibly damaging |
0.90 |
|
R7037:Usp19
|
UTSW |
9 |
108496958 |
missense |
possibly damaging |
0.52 |
|
R7046:Usp19
|
UTSW |
9 |
108497135 |
missense |
possibly damaging |
0.48 |
|
R7235:Usp19
|
UTSW |
9 |
108494924 |
nonsense |
probably null |
|
|
R7699:Usp19
|
UTSW |
9 |
108496172 |
nonsense |
probably null |
|
|
R7705:Usp19
|
UTSW |
9 |
108501913 |
missense |
possibly damaging |
0.89 |
|
R8175:Usp19
|
UTSW |
9 |
108500178 |
missense |
probably damaging |
1.00 |
|
R8551:Usp19
|
UTSW |
9 |
108499297 |
missense |
possibly damaging |
0.50 |
|
R8725:Usp19
|
UTSW |
9 |
108493735 |
missense |
probably damaging |
1.00 |
|
R9142:Usp19
|
UTSW |
9 |
108495085 |
missense |
possibly damaging |
0.79 |
|
R9143:Usp19
|
UTSW |
9 |
108498199 |
missense |
probably damaging |
1.00 |
|
R9421:Usp19
|
UTSW |
9 |
108499593 |
missense |
probably damaging |
1.00 |
|
R9508:Usp19
|
UTSW |
9 |
108494409 |
missense |
probably damaging |
1.00 |
|
R9663:Usp19
|
UTSW |
9 |
108494695 |
missense |
probably damaging |
1.00 |
|
R9731:Usp19
|
UTSW |
9 |
108499686 |
missense |
probably damaging |
1.00 |
|
RF041:Usp19
|
UTSW |
9 |
108493988 |
critical splice acceptor site |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACATTGGCTACCCCTTC -3'
(R):5'- AGAGAGTCCACTGGTGCTAG -3'
Sequencing Primer
(F):5'- TCCTGGTCAGTGTGCCTGC -3'
(R):5'- TATCAGCAGGCGGCCATACTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation