Incidental Mutation 'IGL00481:Usp47'
ID |
5146 |
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 # |
IGL00481
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111673990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 418
(S418G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106653]
[ENSMUST00000210309]
[ENSMUST00000215510]
|
AlphaFold |
Q8BY87 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106653
AA Change: S398G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102264 Gene: ENSMUSG00000059263 AA Change: S398G
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 benign
Transcript: ENSMUST00000210309
AA Change: S418G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211791
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215510
AA Change: S398G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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 |
Abca13 |
T |
C |
11: 9,240,969 (GRCm39) |
L944P |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,373,643 (GRCm39) |
S1885G |
probably damaging |
Het |
Aqp3 |
A |
G |
4: 41,093,632 (GRCm39) |
Y261H |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,793,305 (GRCm39) |
N1380K |
probably damaging |
Het |
Barx2 |
T |
C |
9: 31,758,141 (GRCm39) |
I266V |
unknown |
Het |
BC034090 |
C |
T |
1: 155,108,267 (GRCm39) |
R360H |
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,711,164 (GRCm39) |
M56K |
probably benign |
Het |
Ccnb2 |
T |
C |
9: 70,326,189 (GRCm39) |
K52E |
probably damaging |
Het |
Ccp110 |
G |
A |
7: 118,329,220 (GRCm39) |
V868I |
possibly damaging |
Het |
Cfap300 |
T |
C |
9: 8,042,432 (GRCm39) |
Y57C |
probably damaging |
Het |
Cyld |
G |
T |
8: 89,433,918 (GRCm39) |
V236F |
probably damaging |
Het |
Dst |
T |
C |
1: 34,208,410 (GRCm39) |
|
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,728,830 (GRCm39) |
A637E |
possibly damaging |
Het |
Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
Ezh1 |
A |
T |
11: 101,090,128 (GRCm39) |
M539K |
possibly damaging |
Het |
Fancc |
A |
T |
13: 63,548,059 (GRCm39) |
I80N |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,503,977 (GRCm39) |
S4447N |
probably benign |
Het |
Fem1al |
A |
G |
11: 29,774,755 (GRCm39) |
L234P |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,369,777 (GRCm39) |
E440G |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,395,439 (GRCm39) |
Q1822R |
possibly damaging |
Het |
Iqgap1 |
C |
T |
7: 80,409,592 (GRCm39) |
V248I |
probably benign |
Het |
Itch |
T |
C |
2: 155,054,943 (GRCm39) |
I749T |
probably damaging |
Het |
Kcna10 |
T |
A |
3: 107,102,830 (GRCm39) |
M487K |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,697,212 (GRCm39) |
I84T |
probably benign |
Het |
Myocd |
G |
A |
11: 65,077,980 (GRCm39) |
T477M |
probably damaging |
Het |
Nfic |
A |
T |
10: 81,244,054 (GRCm39) |
V240E |
possibly damaging |
Het |
Or4d2 |
A |
G |
11: 87,784,447 (GRCm39) |
I101T |
possibly damaging |
Het |
Prkdc |
A |
T |
16: 15,608,330 (GRCm39) |
Y3044F |
probably benign |
Het |
Prkg1 |
A |
G |
19: 30,549,022 (GRCm39) |
I636T |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,535,546 (GRCm39) |
V477A |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,329 (GRCm39) |
M119K |
possibly damaging |
Het |
Sec61a1 |
T |
C |
6: 88,483,922 (GRCm39) |
|
probably benign |
Het |
Sectm1b |
A |
G |
11: 120,946,799 (GRCm39) |
V32A |
probably benign |
Het |
Shroom2 |
A |
G |
X: 151,406,219 (GRCm39) |
S1034P |
probably benign |
Het |
Sipa1l3 |
A |
T |
7: 29,085,533 (GRCm39) |
I688N |
probably damaging |
Het |
Slc24a1 |
T |
C |
9: 64,835,301 (GRCm39) |
Y942C |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,810,017 (GRCm39) |
R139K |
possibly damaging |
Het |
Stt3b |
G |
A |
9: 115,080,915 (GRCm39) |
T574I |
probably benign |
Het |
Thoc2 |
A |
G |
X: 40,968,768 (GRCm39) |
I76T |
possibly damaging |
Het |
Tpm3 |
C |
T |
3: 89,995,024 (GRCm39) |
T180M |
probably damaging |
Het |
Uqcrfs1 |
C |
A |
13: 30,724,908 (GRCm39) |
V211F |
probably benign |
Het |
Usp5 |
T |
C |
6: 124,806,316 (GRCm39) |
T15A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,768,147 (GRCm39) |
L122P |
probably damaging |
Het |
Zfp677 |
A |
T |
17: 21,617,930 (GRCm39) |
E329V |
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,653,046 (GRCm39) |
N846K |
possibly damaging |
Het |
Zp1 |
G |
T |
19: 10,896,141 (GRCm39) |
P195T |
probably damaging |
Het |
|
Other mutations in Usp47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL01645:Usp47
|
APN |
7 |
111,654,069 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
2012-04-20 |