Incidental Mutation 'R2902:Usp47'
ID |
261502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp47
|
Ensembl Gene |
ENSMUSG00000059263 |
Gene Name |
ubiquitin specific peptidase 47 |
Synonyms |
A630020C16Rik, 4930502N04Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.839)
|
Stock # |
R2902 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111692658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1020
(Y1020C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106653]
[ENSMUST00000210309]
[ENSMUST00000215510]
|
AlphaFold |
Q8BY87 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106653
AA Change: Y1020C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102264 Gene: ENSMUSG00000059263 AA Change: Y1020C
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: Y1040C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210526
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215510
AA Change: Y1040C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apobec2 |
T |
C |
17: 48,730,409 (GRCm39) |
T86A |
probably benign |
Het |
C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
Cacng3 |
A |
G |
7: 122,353,750 (GRCm39) |
K78R |
possibly damaging |
Het |
Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,302 (GRCm39) |
K237E |
probably benign |
Het |
Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
Cyp4f18 |
A |
T |
8: 72,756,255 (GRCm39) |
I107N |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,225,467 (GRCm39) |
L899P |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,550,722 (GRCm39) |
K3199R |
possibly damaging |
Het |
Ecpas |
G |
A |
4: 58,809,691 (GRCm39) |
T1592M |
probably benign |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Fam186a |
G |
T |
15: 99,843,049 (GRCm39) |
T1065K |
possibly damaging |
Het |
Ferd3l |
T |
G |
12: 33,978,952 (GRCm39) |
M155R |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,243,729 (GRCm39) |
Y602H |
probably damaging |
Het |
Gldn |
T |
C |
9: 54,243,098 (GRCm39) |
L360P |
possibly damaging |
Het |
Gm9920 |
C |
A |
15: 54,975,867 (GRCm39) |
|
probably benign |
Het |
Inhbc |
T |
C |
10: 127,193,621 (GRCm39) |
T132A |
probably benign |
Het |
Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
Lrch3 |
G |
A |
16: 32,770,766 (GRCm39) |
A123T |
probably damaging |
Het |
Mark2 |
A |
T |
19: 7,260,813 (GRCm39) |
S408T |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,402,091 (GRCm39) |
I912F |
probably damaging |
Het |
Nxpe4 |
A |
G |
9: 48,305,446 (GRCm39) |
I279V |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,896,982 (GRCm39) |
F880L |
probably damaging |
Het |
Or5ak23 |
C |
T |
2: 85,244,396 (GRCm39) |
V276M |
possibly damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
Or8c11 |
T |
A |
9: 38,289,337 (GRCm39) |
N53K |
possibly damaging |
Het |
Pcnt |
C |
T |
10: 76,211,064 (GRCm39) |
R2371H |
probably damaging |
Het |
Prex2 |
A |
T |
1: 11,278,838 (GRCm39) |
N1389I |
possibly damaging |
Het |
Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
Prr12 |
C |
T |
7: 44,697,036 (GRCm39) |
G960R |
unknown |
Het |
Rap1b |
A |
G |
10: 117,660,507 (GRCm39) |
S17P |
probably damaging |
Het |
Rhot2 |
G |
T |
17: 26,062,950 (GRCm39) |
Q63K |
probably damaging |
Het |
Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,042,046 (GRCm39) |
L510P |
probably damaging |
Het |
Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
Sv2a |
A |
T |
3: 96,101,072 (GRCm39) |
N690I |
possibly damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,426,220 (GRCm39) |
Y452C |
probably benign |
Het |
Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
Tmem82 |
C |
A |
4: 141,343,775 (GRCm39) |
G165V |
probably benign |
Het |
Tpo |
T |
A |
12: 30,169,448 (GRCm39) |
T96S |
possibly damaging |
Het |
Triobp |
A |
G |
15: 78,857,618 (GRCm39) |
E1073G |
possibly damaging |
Het |
Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
Washc4 |
C |
A |
10: 83,390,627 (GRCm39) |
Y153* |
probably null |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCAGTGACACTTTGTGC -3'
(R):5'- AGCACTGCACTGCAAATGAAAG -3'
Sequencing Primer
(F):5'- CTTTGTGCAATGCAGACAGC -3'
(R):5'- TGCACTGCAAATGAAAGAAACC -3'
|
Posted On |
2015-01-23 |