Incidental Mutation 'R4616:Usp53'
| ID |
351030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp53
|
| Ensembl Gene |
ENSMUSG00000039701 |
| Gene Name |
ubiquitin specific peptidase 53 |
| Synonyms |
Phxr3, Sp6, mbo |
| MMRRC Submission |
041827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R4616 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122725142-122778159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122752769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 80
(M80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090379]
[ENSMUST00000197314]
[ENSMUST00000197934]
[ENSMUST00000199329]
[ENSMUST00000199401]
|
| AlphaFold |
P15975 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090379
AA Change: M196K
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087857
Gene: ENSMUSG00000039701
AA Change: M196K
| 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 |
possibly damaging
Transcript: ENSMUST00000197314
AA Change: M196K
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142600
Gene: ENSMUSG00000039701
AA Change: M196K
| 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 |
noncoding transcript
Transcript: ENSMUST00000197358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197934
AA Change: M223K
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143412
Gene: ENSMUSG00000039701
AA Change: M223K
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000199401
AA Change: M80K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143460
Gene: ENSMUSG00000039701
AA Change: M80K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199923
|
| Meta Mutation Damage Score |
0.2216 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
C |
T |
14: 103,292,781 (GRCm39) |
T435M |
probably benign |
Het |
| Adgrf5 |
T |
C |
17: 43,763,331 (GRCm39) |
F1078L |
probably benign |
Het |
| Adh6a |
A |
T |
3: 138,030,708 (GRCm39) |
N110I |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,798,212 (GRCm39) |
|
probably benign |
Het |
| Aopep |
G |
A |
13: 63,446,565 (GRCm39) |
E123K |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,531,692 (GRCm39) |
F1302S |
probably damaging |
Het |
| Bcl2a1a |
C |
T |
9: 88,839,506 (GRCm39) |
R135W |
probably damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,824,908 (GRCm39) |
S28P |
possibly damaging |
Het |
| C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
| Cfb |
T |
A |
17: 35,078,044 (GRCm39) |
H962L |
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,267,388 (GRCm39) |
M292I |
probably damaging |
Het |
| Clec16a |
T |
A |
16: 10,462,747 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
T |
C |
9: 57,609,039 (GRCm39) |
S307P |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,664,616 (GRCm39) |
V538A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,408,639 (GRCm39) |
Q815* |
probably null |
Het |
| Fam90a1a |
C |
A |
8: 22,453,862 (GRCm39) |
Q406K |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,109 (GRCm39) |
V585A |
probably benign |
Het |
| Gm8214 |
T |
C |
1: 183,414,094 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
G |
A |
13: 25,168,799 (GRCm39) |
G771D |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,614,204 (GRCm39) |
I612N |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,010 (GRCm39) |
E149G |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
| Ighv2-9 |
G |
T |
12: 113,842,839 (GRCm39) |
T76K |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,435,019 (GRCm39) |
M1K |
probably null |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,141 (GRCm39) |
S34T |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,458,184 (GRCm39) |
N1985D |
probably damaging |
Het |
| Jkampl |
A |
G |
6: 73,446,252 (GRCm39) |
V99A |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,637,454 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
T |
C |
1: 153,041,915 (GRCm39) |
Y73C |
probably damaging |
Het |
| Maff |
A |
G |
15: 79,241,898 (GRCm39) |
D105G |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,797,132 (GRCm39) |
V312M |
possibly damaging |
Het |
| Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrgbp |
A |
T |
2: 180,227,107 (GRCm39) |
|
silent |
Het |
| Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,136,540 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,728,932 (GRCm39) |
I596T |
probably damaging |
Het |
| Or2f1b |
G |
T |
6: 42,739,352 (GRCm39) |
R122L |
probably benign |
Het |
| Or52e3 |
C |
T |
7: 102,869,629 (GRCm39) |
R235* |
probably null |
Het |
| Pcsk5 |
T |
G |
19: 17,538,114 (GRCm39) |
Q904H |
probably benign |
Het |
| Pdzrn3 |
G |
T |
6: 101,128,970 (GRCm39) |
H565Q |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,012,087 (GRCm39) |
I337N |
probably damaging |
Het |
| Psmd3 |
T |
C |
11: 98,573,752 (GRCm39) |
V66A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,272,931 (GRCm39) |
S93P |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,434,840 (GRCm39) |
D301E |
probably damaging |
Het |
| Rdh16 |
A |
T |
10: 127,637,382 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
A |
T |
16: 44,964,655 (GRCm39) |
F193I |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,186,420 (GRCm39) |
K167R |
probably damaging |
Het |
| Sort1 |
A |
T |
3: 108,262,857 (GRCm39) |
T772S |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,879,238 (GRCm39) |
|
noncoding transcript |
Het |
| Stard5 |
G |
T |
7: 83,282,489 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,119,886 (GRCm39) |
T61A |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,135 (GRCm39) |
L185Q |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
| Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,127 (GRCm39) |
S3556P |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAATCAGTGCTTCCATG -3'
(R):5'- AGAACCTTTACCCTCATCCAGG -3'
Sequencing Primer
(F):5'- CTTCCATGATAATTTTTGGGTGCC -3'
(R):5'- AGTTCATAGGCGAGGCTAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation