Incidental Mutation 'IGL01645:Usp47'
| ID |
102632 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp47
|
| Ensembl Gene |
ENSMUSG00000059263 |
| Gene Name |
ubiquitin specific peptidase 47 |
| Synonyms |
A630020C16Rik, 4930502N04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
IGL01645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111654069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 108
(S108R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106653]
[ENSMUST00000210309]
[ENSMUST00000215510]
|
| AlphaFold |
Q8BY87 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106653
AA Change: S88R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: S88R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
167 |
541 |
1.2e-50 |
PFAM |
|
Pfam:UCH_1
|
168 |
507 |
5.1e-31 |
PFAM |
|
coiled coil region
|
554 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
950 |
N/A |
INTRINSIC |
|
Pfam:Ubiquitin_2
|
1026 |
1095 |
1.9e-3 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210309
AA Change: S108R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211791
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215510
AA Change: S88R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
T |
7: 45,764,477 (GRCm39) |
C1156Y |
possibly damaging |
Het |
| Armh4 |
T |
C |
14: 50,011,011 (GRCm39) |
E232G |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,679,184 (GRCm39) |
H766Y |
probably benign |
Het |
| Cacna2d1 |
C |
A |
5: 16,217,389 (GRCm39) |
|
probably null |
Het |
| Card11 |
T |
A |
5: 140,863,778 (GRCm39) |
T987S |
probably benign |
Het |
| Dennd2b |
T |
A |
7: 109,126,841 (GRCm39) |
K540* |
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,286,017 (GRCm39) |
Y2723N |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,150,733 (GRCm39) |
I342F |
possibly damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,170,871 (GRCm39) |
H454R |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,394,763 (GRCm39) |
T592A |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,825,451 (GRCm39) |
S49T |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,987,159 (GRCm39) |
N294K |
probably benign |
Het |
| Fmo3 |
A |
G |
1: 162,791,575 (GRCm39) |
V234A |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,435 (GRCm39) |
F420L |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,026,389 (GRCm39) |
N301S |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,069 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
A |
T |
1: 163,214,000 (GRCm39) |
L310Q |
possibly damaging |
Het |
| Gsdme |
A |
G |
6: 50,228,316 (GRCm39) |
Y51H |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,012 (GRCm39) |
L96P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,450,560 (GRCm39) |
I1964T |
possibly damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,053 (GRCm39) |
L410P |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,395,090 (GRCm39) |
R112G |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,681 (GRCm39) |
T247A |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,483,207 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
T |
C |
11: 94,394,293 (GRCm39) |
|
probably null |
Het |
| Myoz2 |
T |
A |
3: 122,827,881 (GRCm39) |
K12N |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,491 (GRCm39) |
S343G |
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,256,359 (GRCm39) |
I288T |
possibly damaging |
Het |
| P3h1 |
T |
G |
4: 119,093,980 (GRCm39) |
F212V |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,656 (GRCm39) |
D265G |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,361,934 (GRCm39) |
T992I |
possibly damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
| Pth2 |
T |
A |
7: 44,830,764 (GRCm39) |
L29Q |
possibly damaging |
Het |
| Rab1b |
A |
C |
19: 5,154,962 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,464,834 (GRCm39) |
C190* |
probably null |
Het |
| Scn9a |
T |
C |
2: 66,317,986 (GRCm39) |
K1501E |
possibly damaging |
Het |
| Selenoi |
A |
G |
5: 30,462,821 (GRCm39) |
|
probably benign |
Het |
| Slc11a2 |
T |
C |
15: 100,286,999 (GRCm39) |
N558S |
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,539 (GRCm39) |
I173V |
probably benign |
Het |
| Sra1 |
A |
C |
18: 36,804,526 (GRCm39) |
F476C |
probably damaging |
Het |
| Tmem119 |
T |
A |
5: 113,933,409 (GRCm39) |
K131* |
probably null |
Het |
| Trim12c |
T |
A |
7: 103,994,261 (GRCm39) |
K198* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,681,904 (GRCm39) |
|
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,265,371 (GRCm39) |
V154I |
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,547 (GRCm39) |
C138* |
probably null |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,614 (GRCm39) |
I47V |
probably benign |
Het |
| Wnt3 |
C |
T |
11: 103,703,204 (GRCm39) |
A229V |
probably benign |
Het |
|
| Other mutations in Usp47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Usp47
|
APN |
7 |
111,673,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00574:Usp47
|
APN |
7 |
111,662,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00975:Usp47
|
APN |
7 |
111,692,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01289:Usp47
|
APN |
7 |
111,662,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Usp47
|
APN |
7 |
111,687,118 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01871:Usp47
|
APN |
7 |
111,676,993 (GRCm39) |
splice site |
probably benign |
|
|
IGL02066:Usp47
|
APN |
7 |
111,663,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Usp47
|
APN |
7 |
111,706,115 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02153:Usp47
|
APN |
7 |
111,703,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02550:Usp47
|
APN |
7 |
111,703,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Usp47
|
APN |
7 |
111,692,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02756:Usp47
|
APN |
7 |
111,692,270 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03093:Usp47
|
APN |
7 |
111,688,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Usp47
|
APN |
7 |
111,673,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
0152:Usp47
|
UTSW |
7 |
111,655,784 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4142001:Usp47
|
UTSW |
7 |
111,703,548 (GRCm39) |
splice site |
probably benign |
|
|
R0110:Usp47
|
UTSW |
7 |
111,655,787 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0381:Usp47
|
UTSW |
7 |
111,662,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0450:Usp47
|
UTSW |
7 |
111,655,787 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0634:Usp47
|
UTSW |
7 |
111,707,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Usp47
|
UTSW |
7 |
111,690,643 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1178:Usp47
|
UTSW |
7 |
111,709,205 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1447:Usp47
|
UTSW |
7 |
111,673,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1640:Usp47
|
UTSW |
7 |
111,682,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Usp47
|
UTSW |
7 |
111,685,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1866:Usp47
|
UTSW |
7 |
111,701,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1876:Usp47
|
UTSW |
7 |
111,654,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1953:Usp47
|
UTSW |
7 |
111,692,083 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2117:Usp47
|
UTSW |
7 |
111,666,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2176:Usp47
|
UTSW |
7 |
111,691,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2187:Usp47
|
UTSW |
7 |
111,666,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Usp47
|
UTSW |
7 |
111,703,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2902:Usp47
|
UTSW |
7 |
111,692,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2922:Usp47
|
UTSW |
7 |
111,692,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Usp47
|
UTSW |
7 |
111,681,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4065:Usp47
|
UTSW |
7 |
111,652,623 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4179:Usp47
|
UTSW |
7 |
111,687,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Usp47
|
UTSW |
7 |
111,709,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4243:Usp47
|
UTSW |
7 |
111,707,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4281:Usp47
|
UTSW |
7 |
111,709,200 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4360:Usp47
|
UTSW |
7 |
111,654,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Usp47
|
UTSW |
7 |
111,701,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Usp47
|
UTSW |
7 |
111,681,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Usp47
|
UTSW |
7 |
111,683,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Usp47
|
UTSW |
7 |
111,692,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Usp47
|
UTSW |
7 |
111,652,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5445:Usp47
|
UTSW |
7 |
111,673,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Usp47
|
UTSW |
7 |
111,658,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Usp47
|
UTSW |
7 |
111,709,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5961:Usp47
|
UTSW |
7 |
111,652,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Usp47
|
UTSW |
7 |
111,687,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6271:Usp47
|
UTSW |
7 |
111,686,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Usp47
|
UTSW |
7 |
111,686,220 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7229:Usp47
|
UTSW |
7 |
111,692,084 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7246:Usp47
|
UTSW |
7 |
111,715,116 (GRCm39) |
|
|
|
|
R7285:Usp47
|
UTSW |
7 |
111,692,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7938:Usp47
|
UTSW |
7 |
111,687,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8079:Usp47
|
UTSW |
7 |
111,646,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Usp47
|
UTSW |
7 |
111,692,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Usp47
|
UTSW |
7 |
111,652,472 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8172:Usp47
|
UTSW |
7 |
111,687,133 (GRCm39) |
nonsense |
probably null |
|
|
R8223:Usp47
|
UTSW |
7 |
111,703,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Usp47
|
UTSW |
7 |
111,658,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Usp47
|
UTSW |
7 |
111,692,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9106:Usp47
|
UTSW |
7 |
111,681,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Usp47
|
UTSW |
7 |
111,652,431 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9311:Usp47
|
UTSW |
7 |
111,703,257 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9417:Usp47
|
UTSW |
7 |
111,688,801 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9487:Usp47
|
UTSW |
7 |
111,677,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9628:Usp47
|
UTSW |
7 |
111,705,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF010:Usp47
|
UTSW |
7 |
111,692,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0027:Usp47
|
UTSW |
7 |
111,687,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation