Incidental Mutation 'R0066:Usp53'
| ID |
17204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp53
|
| Ensembl Gene |
ENSMUSG00000039701 |
| Gene Name |
ubiquitin specific peptidase 53 |
| Synonyms |
Phxr3, Sp6, mbo |
| MMRRC Submission |
038357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R0066 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122725142-122778159 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 122746956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 363
(C363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090379]
[ENSMUST00000197314]
[ENSMUST00000197934]
[ENSMUST00000199329]
|
| AlphaFold |
P15975 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090379
AA Change: C336*
|
| SMART Domains |
Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: C336*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
29 |
348 |
1.6e-20 |
PFAM |
|
Pfam:UCH_1
|
30 |
322 |
9.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197314
|
| SMART Domains |
Protein: ENSMUSP00000142600
Gene: ENSMUSG00000039701
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
29 |
266 |
1.7e-15 |
PFAM |
|
Pfam:UCH_1
|
30 |
266 |
2.3e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197934
AA Change: C363*
|
| SMART Domains |
Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701
AA Change: C363*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
29 |
375 |
2.2e-21 |
PFAM |
|
Pfam:UCH_1
|
30 |
349 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199329
|
| SMART Domains |
Protein: ENSMUSP00000143119
Gene: ENSMUSG00000039701
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
29 |
126 |
1.8e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199923
|
| Meta Mutation Damage Score |
0.9710 |
| Coding Region Coverage |
- 1x: 89.0%
- 3x: 85.6%
- 10x: 75.4%
- 20x: 57.8%
|
| Validation Efficiency |
94% (112/119) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss associated with altered cochlear outer hair cell (OHC) morphology, reduced endocochlear potential, and early OHC loss followed by IHC and spiral ganglion degeneration. Heterozygotes are susceptible to noise-induced hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(48) : Gene trapped(48)
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810064F22Rik |
A |
G |
9: 22,119,177 (GRCm39) |
|
noncoding transcript |
Het |
| Aco2 |
T |
C |
15: 81,787,666 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
A |
15: 89,358,539 (GRCm39) |
M288L |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,614,708 (GRCm39) |
D1074E |
probably benign |
Het |
| Baiap2l1 |
A |
T |
5: 144,221,372 (GRCm39) |
I174N |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,952,962 (GRCm39) |
V199A |
possibly damaging |
Het |
| Btn2a2 |
T |
A |
13: 23,662,655 (GRCm39) |
I432L |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,395,850 (GRCm39) |
I778V |
probably benign |
Het |
| Cd200r2 |
G |
A |
16: 44,730,037 (GRCm39) |
V194I |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,786,964 (GRCm39) |
L1421R |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,579,412 (GRCm39) |
C1938S |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,795,418 (GRCm39) |
D1051V |
probably damaging |
Het |
| Cstf1 |
T |
A |
2: 172,214,976 (GRCm39) |
N32K |
probably benign |
Het |
| Ctrb1 |
G |
A |
8: 112,413,269 (GRCm39) |
R248* |
probably null |
Het |
| Cyp2d11 |
T |
A |
15: 82,275,958 (GRCm39) |
M208L |
probably benign |
Het |
| Dbt |
A |
G |
3: 116,337,478 (GRCm39) |
Q334R |
probably benign |
Het |
| Dcaf12 |
A |
G |
4: 41,298,338 (GRCm39) |
V270A |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,447 (GRCm39) |
N361I |
probably benign |
Het |
| Dnm3 |
A |
G |
1: 162,234,930 (GRCm39) |
V70A |
probably damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,557,679 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
A |
1: 34,228,634 (GRCm39) |
H2254N |
possibly damaging |
Het |
| Eif2b1 |
T |
G |
5: 124,711,858 (GRCm39) |
|
probably null |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,531 (GRCm39) |
N168S |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,927,631 (GRCm39) |
Y691C |
possibly damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,398 (GRCm39) |
D76V |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,477,963 (GRCm39) |
L48P |
probably damaging |
Het |
| Gimap6 |
T |
A |
6: 48,679,404 (GRCm39) |
I211F |
probably damaging |
Het |
| Gm15130 |
A |
G |
2: 110,969,284 (GRCm39) |
|
probably benign |
Het |
| Gm19618 |
A |
T |
6: 87,691,227 (GRCm39) |
|
|
Het |
| Gpatch1 |
G |
A |
7: 34,986,652 (GRCm39) |
S768L |
probably damaging |
Het |
| Grb14 |
T |
G |
2: 64,768,836 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
T |
C |
5: 100,112,560 (GRCm39) |
E222G |
probably damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,989 (GRCm39) |
S40P |
possibly damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,626 (GRCm39) |
H26R |
probably benign |
Het |
| Kctd2 |
T |
G |
11: 115,320,343 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
G |
A |
4: 123,325,943 (GRCm39) |
Q3066* |
probably null |
Het |
| Mfn2 |
G |
A |
4: 147,969,902 (GRCm39) |
|
probably benign |
Het |
| Mmab |
T |
C |
5: 114,574,526 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,266,011 (GRCm39) |
S310P |
probably benign |
Het |
| Mrps21 |
T |
C |
3: 95,770,197 (GRCm39) |
Y44C |
probably null |
Het |
| Myh10 |
T |
A |
11: 68,590,317 (GRCm39) |
F121Y |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,820,677 (GRCm39) |
D840G |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,119,572 (GRCm39) |
|
probably benign |
Het |
| Ntsr2 |
T |
C |
12: 16,704,120 (GRCm39) |
I207T |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
| Or11j4 |
T |
A |
14: 50,630,659 (GRCm39) |
F149I |
probably benign |
Het |
| Pkd1l3 |
G |
T |
8: 110,347,103 (GRCm39) |
G159C |
unknown |
Het |
| Plcb4 |
T |
C |
2: 135,803,689 (GRCm39) |
S521P |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,752,634 (GRCm39) |
I993F |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,756,743 (GRCm39) |
S640G |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 117,240,222 (GRCm39) |
N993T |
probably benign |
Het |
| Reck |
A |
G |
4: 43,930,936 (GRCm39) |
N646D |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 57,093,736 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
G |
A |
4: 16,123,868 (GRCm39) |
Q436* |
probably null |
Het |
| Ryr1 |
C |
T |
7: 28,704,992 (GRCm39) |
|
probably benign |
Het |
| Sema6b |
A |
G |
17: 56,435,271 (GRCm39) |
V324A |
possibly damaging |
Het |
| Sik2 |
C |
A |
9: 50,909,833 (GRCm39) |
M73I |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,326 (GRCm39) |
K321E |
probably damaging |
Het |
| Slc7a4 |
C |
A |
16: 17,391,875 (GRCm39) |
V520F |
probably benign |
Het |
| Sptan1 |
C |
A |
2: 29,893,679 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,879,027 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
C |
T |
7: 44,493,495 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,394,590 (GRCm39) |
L49* |
probably null |
Het |
| Tulp4 |
A |
T |
17: 6,252,008 (GRCm39) |
N60I |
probably damaging |
Het |
| Ubqlnl |
A |
T |
7: 103,798,145 (GRCm39) |
W451R |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,649,530 (GRCm39) |
T660A |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,641 (GRCm39) |
Y86F |
probably benign |
Het |
| Vmn1r195 |
A |
T |
13: 22,463,409 (GRCm39) |
H293L |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,109,998 (GRCm39) |
R306G |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,296,273 (GRCm39) |
E515G |
possibly damaging |
Het |
| Wdr18 |
C |
A |
10: 79,796,937 (GRCm39) |
Y104* |
probably null |
Het |
| Xab2 |
A |
T |
8: 3,663,880 (GRCm39) |
N346K |
probably damaging |
Het |
| Zdhhc12 |
C |
T |
2: 29,982,547 (GRCm39) |
R50H |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,043,064 (GRCm39) |
S379P |
probably benign |
Het |
|
| Other mutations in Usp53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Usp53
|
APN |
3 |
122,751,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01965:Usp53
|
APN |
3 |
122,754,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02115:Usp53
|
APN |
3 |
122,741,039 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02993:Usp53
|
APN |
3 |
122,727,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Usp53
|
APN |
3 |
122,755,064 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03206:Usp53
|
APN |
3 |
122,746,832 (GRCm39) |
missense |
probably benign |
|
|
IGL03369:Usp53
|
APN |
3 |
122,727,370 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0066:Usp53
|
UTSW |
3 |
122,746,956 (GRCm39) |
nonsense |
probably null |
|
|
R0366:Usp53
|
UTSW |
3 |
122,742,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1015:Usp53
|
UTSW |
3 |
122,727,408 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1388:Usp53
|
UTSW |
3 |
122,751,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1592:Usp53
|
UTSW |
3 |
122,727,699 (GRCm39) |
nonsense |
probably null |
|
|
R1635:Usp53
|
UTSW |
3 |
122,727,872 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1707:Usp53
|
UTSW |
3 |
122,741,049 (GRCm39) |
missense |
probably benign |
|
|
R2177:Usp53
|
UTSW |
3 |
122,729,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2848:Usp53
|
UTSW |
3 |
122,728,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2898:Usp53
|
UTSW |
3 |
122,751,223 (GRCm39) |
nonsense |
probably null |
|
|
R3411:Usp53
|
UTSW |
3 |
122,743,507 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3618:Usp53
|
UTSW |
3 |
122,728,061 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3713:Usp53
|
UTSW |
3 |
122,742,968 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3715:Usp53
|
UTSW |
3 |
122,742,968 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3923:Usp53
|
UTSW |
3 |
122,727,954 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4616:Usp53
|
UTSW |
3 |
122,752,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Usp53
|
UTSW |
3 |
122,727,631 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4730:Usp53
|
UTSW |
3 |
122,756,582 (GRCm39) |
missense |
probably null |
0.82 |
|
R4860:Usp53
|
UTSW |
3 |
122,755,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4860:Usp53
|
UTSW |
3 |
122,755,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5073:Usp53
|
UTSW |
3 |
122,727,595 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5580:Usp53
|
UTSW |
3 |
122,727,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5894:Usp53
|
UTSW |
3 |
122,752,734 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6176:Usp53
|
UTSW |
3 |
122,727,652 (GRCm39) |
nonsense |
probably null |
|
|
R6191:Usp53
|
UTSW |
3 |
122,743,390 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6634:Usp53
|
UTSW |
3 |
122,757,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Usp53
|
UTSW |
3 |
122,743,359 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7211:Usp53
|
UTSW |
3 |
122,751,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7613:Usp53
|
UTSW |
3 |
122,743,467 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7621:Usp53
|
UTSW |
3 |
122,754,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7652:Usp53
|
UTSW |
3 |
122,746,884 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7753:Usp53
|
UTSW |
3 |
122,742,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Usp53
|
UTSW |
3 |
122,743,415 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7861:Usp53
|
UTSW |
3 |
122,728,112 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7911:Usp53
|
UTSW |
3 |
122,754,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7962:Usp53
|
UTSW |
3 |
122,728,000 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7965:Usp53
|
UTSW |
3 |
122,756,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8193:Usp53
|
UTSW |
3 |
122,741,012 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8210:Usp53
|
UTSW |
3 |
122,741,045 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8848:Usp53
|
UTSW |
3 |
122,743,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8848:Usp53
|
UTSW |
3 |
122,742,825 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8966:Usp53
|
UTSW |
3 |
122,754,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9054:Usp53
|
UTSW |
3 |
122,727,725 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9204:Usp53
|
UTSW |
3 |
122,741,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9405:Usp53
|
UTSW |
3 |
122,746,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Usp53
|
UTSW |
3 |
122,751,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Usp53
|
UTSW |
3 |
122,746,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Protein Function and Prediction |
Although the function of USP53 is unknown, it is proposed to be a ubiquitin-specific protease (1). Semi-quantitative RT-PCR determined that USP53 is highly expressed in the cardiac muscle and hair follicle (1). Immunohistochemistry determined that USP53 is localized to the outer root sheath of the hair follicle (1). Duplication of a 375 kb region on chromosome 4q26-27 (USP53 and two other genes are located in this region) is linked to Cantu syndrome, a condition characterized by hypertrichosis, cardiomegaly, and bone abnormalities (1).
|
| References |
1. Kurban, M., Kim, C. A., Kiuru, M., Fantauzzo, K., Cabral, R., Abbas, O., Levy, B., and Christiano, A. M. (2011) Copy Number Variations on Chromosome 4q26-27 are Associated with Cantu Syndrome. Dermatology. 223, 316-320. |
| Posted On |
2013-01-20 |
| Science Writer |
Anne Murray |
Incidental Mutation