Incidental Mutation 'PIT4354001:Usp14'
| ID |
554837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp14
|
| Ensembl Gene |
ENSMUSG00000047879 |
| Gene Name |
ubiquitin specific peptidase 14 |
| Synonyms |
ax, 2610005K12Rik, nmf375, ataxia, 2610037B11Rik, dUB-type TGT, NMF375 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4354001 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
9993615-10030149 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9996189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 464
(R464W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025137]
[ENSMUST00000092096]
[ENSMUST00000116669]
|
| AlphaFold |
Q9JMA1 |
| PDB Structure |
Solution Structure of the N-terminal Ubiquitin-like Domain of Mouse Ubiquitin Specific Protease 14 (USP14) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025137
|
| SMART Domains |
Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:efThoc1
|
69 |
546 |
7.2e-149 |
PFAM |
|
DEATH
|
560 |
653 |
1.27e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092096
AA Change: R464W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879
AA Change: R464W
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
4 |
74 |
3.61e-11 |
SMART |
|
Pfam:UCH
|
104 |
479 |
9e-57 |
PFAM |
|
Pfam:UCH_1
|
105 |
456 |
3.2e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116669
AA Change: R429W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879
AA Change: R429W
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
4 |
73 |
2.63e-4 |
SMART |
|
low complexity region
|
217 |
235 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a hypomorphic mutation develop severe tremors by 3 weeks of age, followed by hindlimb paralysis and premature death. An underdeveloped corpus callosum, hippocampus, dentate gyrus and forebrain structures, and notable defects in synaptic transmission in both the CNS and PNS are seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
| Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or2v1 |
G |
A |
11: 49,025,132 (GRCm39) |
V38M |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
Het |
|
| Other mutations in Usp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02671:Usp14
|
APN |
18 |
9,997,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02756:Usp14
|
APN |
18 |
10,001,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1238:Usp14
|
UTSW |
18 |
9,997,763 (GRCm39) |
missense |
probably benign |
|
|
R1343:Usp14
|
UTSW |
18 |
10,016,623 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1365:Usp14
|
UTSW |
18 |
10,000,490 (GRCm39) |
splice site |
probably null |
|
|
R1495:Usp14
|
UTSW |
18 |
10,004,994 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1817:Usp14
|
UTSW |
18 |
10,024,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Usp14
|
UTSW |
18 |
10,024,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2190:Usp14
|
UTSW |
18 |
10,007,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Usp14
|
UTSW |
18 |
10,024,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3837:Usp14
|
UTSW |
18 |
10,024,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3838:Usp14
|
UTSW |
18 |
10,024,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3839:Usp14
|
UTSW |
18 |
10,024,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3870:Usp14
|
UTSW |
18 |
10,002,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3871:Usp14
|
UTSW |
18 |
10,002,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5388:Usp14
|
UTSW |
18 |
10,018,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Usp14
|
UTSW |
18 |
10,009,935 (GRCm39) |
intron |
probably benign |
|
|
R5871:Usp14
|
UTSW |
18 |
9,996,234 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5898:Usp14
|
UTSW |
18 |
10,022,819 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7899:Usp14
|
UTSW |
18 |
10,000,563 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8911:Usp14
|
UTSW |
18 |
9,996,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8996:Usp14
|
UTSW |
18 |
10,000,521 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9310:Usp14
|
UTSW |
18 |
9,996,239 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9723:Usp14
|
UTSW |
18 |
10,009,993 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9766:Usp14
|
UTSW |
18 |
10,005,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAGTGGCTTGGTTCTGTTC -3'
(R):5'- CGTGAAATCATATTGAACCTGCATG -3'
Sequencing Primer
(F):5'- TGTTCTCATTTTCTTTAGAGCTCAAG -3'
(R):5'- ATGGTCCCTGGGCCATGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation