Incidental Mutation 'R3949:Usp7'
| ID |
307836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp7
|
| Ensembl Gene |
ENSMUSG00000022710 |
| Gene Name |
ubiquitin specific peptidase 7 |
| Synonyms |
2210010O09Rik |
| MMRRC Submission |
040929-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
8506586-8574931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8534428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 46
(N46K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160326]
[ENSMUST00000160405]
[ENSMUST00000161046]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160326
AA Change: N46K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124576
Gene: ENSMUSG00000022710
AA Change: N46K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2F1Z|B
|
43 |
83 |
2e-18 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160405
AA Change: N86K
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124382
Gene: ENSMUSG00000022710
AA Change: N86K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
MATH
|
111 |
217 |
4.27e-22 |
SMART |
|
Pfam:UCH
|
254 |
559 |
5.7e-53 |
PFAM |
|
Pfam:UCH_1
|
255 |
528 |
3.7e-22 |
PFAM |
|
Pfam:USP7_ICP0_bdg
|
661 |
906 |
7.1e-79 |
PFAM |
|
Pfam:USP7_C2
|
916 |
1127 |
4.9e-63 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161046
AA Change: N46K
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124093
Gene: ENSMUSG00000022710
AA Change: N46K
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
71 |
177 |
4.27e-22 |
SMART |
|
Pfam:UCH
|
214 |
519 |
9.6e-60 |
PFAM |
|
Pfam:UCH_1
|
215 |
488 |
5.1e-29 |
PFAM |
|
Pfam:USP7_ICP0_bdg
|
620 |
866 |
5e-83 |
PFAM |
|
Pfam:USP7_C2
|
875 |
1089 |
2.7e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162445
|
| Meta Mutation Damage Score |
0.1248 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5. Mice homozygous for a conditional allele activated in neural cells exhibit complete neonatal lethality, absent gastric milk, uncoordinated movement and abnormalforebrain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
T |
13: 8,620,455 (GRCm39) |
M314L |
probably damaging |
Het |
| Apcs |
A |
G |
1: 172,722,259 (GRCm39) |
F29S |
probably damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,386,081 (GRCm39) |
M66V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,258,467 (GRCm39) |
K269E |
probably benign |
Het |
| Chrdl2 |
A |
C |
7: 99,678,412 (GRCm39) |
E328A |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,713 (GRCm39) |
N421S |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,473 (GRCm39) |
Q207K |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fan1 |
C |
A |
7: 64,021,292 (GRCm39) |
E591* |
probably null |
Het |
| Fpr1 |
C |
A |
17: 18,097,191 (GRCm39) |
C266F |
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,478,146 (GRCm39) |
R151H |
possibly damaging |
Het |
| Gipr |
T |
C |
7: 18,891,354 (GRCm39) |
N441S |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,239 (GRCm39) |
I708T |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,498,617 (GRCm39) |
G10S |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,332,648 (GRCm39) |
K257Q |
probably damaging |
Het |
| Lcp1 |
A |
G |
14: 75,443,569 (GRCm39) |
N195S |
possibly damaging |
Het |
| Or4k48 |
A |
T |
2: 111,475,871 (GRCm39) |
I157K |
possibly damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,384 (GRCm39) |
S160P |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,840,905 (GRCm39) |
D113G |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,141 (GRCm39) |
S426P |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,444,180 (GRCm39) |
D492G |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrf1 |
A |
C |
9: 89,863,797 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,468,636 (GRCm39) |
L170H |
probably damaging |
Het |
| Sfxn4 |
A |
G |
19: 60,840,501 (GRCm39) |
Y165H |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,059,833 (GRCm39) |
V296D |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,204,290 (GRCm39) |
|
probably null |
Het |
| Tbx2 |
C |
T |
11: 85,729,101 (GRCm39) |
Q495* |
probably null |
Het |
| Trav6-1 |
G |
A |
14: 52,875,993 (GRCm39) |
V8M |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,348 (GRCm39) |
F432I |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,185,165 (GRCm39) |
|
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,985,453 (GRCm39) |
V272A |
probably benign |
Het |
|
| Other mutations in Usp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Usp7
|
APN |
16 |
8,515,839 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00496:Usp7
|
APN |
16 |
8,512,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02113:Usp7
|
APN |
16 |
8,534,377 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02873:Usp7
|
APN |
16 |
8,513,058 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03036:Usp7
|
APN |
16 |
8,556,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4402001:Usp7
|
UTSW |
16 |
8,516,359 (GRCm39) |
missense |
probably benign |
|
|
R0066:Usp7
|
UTSW |
16 |
8,509,282 (GRCm39) |
missense |
probably benign |
|
|
R0400:Usp7
|
UTSW |
16 |
8,534,496 (GRCm39) |
splice site |
probably benign |
|
|
R0483:Usp7
|
UTSW |
16 |
8,517,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Usp7
|
UTSW |
16 |
8,522,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0626:Usp7
|
UTSW |
16 |
8,511,778 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0837:Usp7
|
UTSW |
16 |
8,521,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Usp7
|
UTSW |
16 |
8,514,518 (GRCm39) |
unclassified |
probably benign |
|
|
R1929:Usp7
|
UTSW |
16 |
8,516,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2270:Usp7
|
UTSW |
16 |
8,516,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2271:Usp7
|
UTSW |
16 |
8,516,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2272:Usp7
|
UTSW |
16 |
8,516,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4411:Usp7
|
UTSW |
16 |
8,526,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Usp7
|
UTSW |
16 |
8,526,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4500:Usp7
|
UTSW |
16 |
8,513,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4651:Usp7
|
UTSW |
16 |
8,516,278 (GRCm39) |
intron |
probably benign |
|
|
R4852:Usp7
|
UTSW |
16 |
8,574,708 (GRCm39) |
nonsense |
probably null |
|
|
R5483:Usp7
|
UTSW |
16 |
8,516,404 (GRCm39) |
missense |
probably benign |
|
|
R5610:Usp7
|
UTSW |
16 |
8,534,374 (GRCm39) |
splice site |
probably null |
|
|
R5734:Usp7
|
UTSW |
16 |
8,519,845 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5964:Usp7
|
UTSW |
16 |
8,529,966 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6753:Usp7
|
UTSW |
16 |
8,514,775 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7171:Usp7
|
UTSW |
16 |
8,534,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7263:Usp7
|
UTSW |
16 |
8,514,588 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7420:Usp7
|
UTSW |
16 |
8,527,985 (GRCm39) |
missense |
probably benign |
|
|
R7654:Usp7
|
UTSW |
16 |
8,519,907 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7789:Usp7
|
UTSW |
16 |
8,516,675 (GRCm39) |
missense |
probably benign |
|
|
R7808:Usp7
|
UTSW |
16 |
8,523,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Usp7
|
UTSW |
16 |
8,515,771 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8353:Usp7
|
UTSW |
16 |
8,513,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8502:Usp7
|
UTSW |
16 |
8,512,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8548:Usp7
|
UTSW |
16 |
8,529,939 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9322:Usp7
|
UTSW |
16 |
8,517,124 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9438:Usp7
|
UTSW |
16 |
8,522,833 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACAGGATCCCAGCTTGG -3'
(R):5'- GAGCAGATTATCATGCATTGTGACC -3'
Sequencing Primer
(F):5'- ATCCCAGCTTGGCCTCAG -3'
(R):5'- GCATTGTGACCAATATTCAATAGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation