Incidental Mutation 'IGL01419:Usp47'
| ID |
80348 |
| 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: 0.839)
|
| Stock # |
IGL01419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111687118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 692
(M692K)
|
| 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: M672K
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: M672K
| 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 |
possibly damaging
Transcript: ENSMUST00000210309
AA Change: M692K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210526
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215510
AA Change: M692K
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
T |
2: 25,327,526 (GRCm39) |
T672S |
probably damaging |
Het |
| Adamts14 |
A |
T |
10: 61,041,321 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,277 (GRCm39) |
E791G |
probably damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,354 (GRCm39) |
R584G |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,052,251 (GRCm39) |
I1218F |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,865,233 (GRCm39) |
S52P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,192,351 (GRCm39) |
S462P |
possibly damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,040 (GRCm39) |
H202R |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,102,270 (GRCm39) |
S1323P |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,667,382 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,420 (GRCm39) |
I242K |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,086 (GRCm39) |
T27A |
probably damaging |
Het |
| D930048N14Rik |
C |
T |
11: 51,545,603 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
A |
T |
2: 104,552,455 (GRCm39) |
Y451N |
possibly damaging |
Het |
| Diaph3 |
C |
A |
14: 87,202,989 (GRCm39) |
G623* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,317,371 (GRCm39) |
T435A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,096,816 (GRCm39) |
S575G |
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,210,790 (GRCm39) |
Y407F |
probably benign |
Het |
| Fzd4 |
C |
A |
7: 89,056,943 (GRCm39) |
A330E |
probably damaging |
Het |
| Gm17415 |
A |
G |
1: 93,349,672 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
C |
T |
9: 107,556,633 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,725,081 (GRCm39) |
Y76C |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,103,939 (GRCm39) |
H1079Y |
probably benign |
Het |
| Helz |
T |
G |
11: 107,577,340 (GRCm39) |
I1897S |
unknown |
Het |
| Hspa12a |
T |
C |
19: 58,816,681 (GRCm39) |
|
probably null |
Het |
| Kcne1 |
G |
T |
16: 92,145,534 (GRCm39) |
F103L |
probably benign |
Het |
| Lrrc20 |
A |
T |
10: 61,383,874 (GRCm39) |
S94C |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,147,111 (GRCm39) |
T642A |
probably benign |
Het |
| Ly6g5b |
A |
G |
17: 35,333,494 (GRCm39) |
L106P |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,423 (GRCm39) |
S698G |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,900 (GRCm39) |
V334A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,116,545 (GRCm39) |
Y964* |
probably null |
Het |
| Or4c123 |
T |
C |
2: 89,126,689 (GRCm39) |
|
probably benign |
Het |
| Or8k3 |
A |
T |
2: 86,058,973 (GRCm39) |
I114N |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,588 (GRCm39) |
F497L |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,825,589 (GRCm39) |
M343V |
possibly damaging |
Het |
| Phactr3 |
C |
T |
2: 177,920,855 (GRCm39) |
T231I |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,890,980 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,489,351 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
G |
T |
4: 142,860,218 (GRCm39) |
P1024H |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,448 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,653,030 (GRCm39) |
P3835Q |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,353 (GRCm39) |
T87A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,814,723 (GRCm39) |
E683V |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,528 (GRCm39) |
L214P |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,985,835 (GRCm39) |
S250G |
probably benign |
Het |
| Slc27a6 |
T |
A |
18: 58,742,281 (GRCm39) |
D498E |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,154,894 (GRCm39) |
D1410G |
probably benign |
Het |
| Tas2r134 |
T |
A |
2: 51,517,759 (GRCm39) |
Y79* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,333,295 (GRCm39) |
D857G |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,498 (GRCm39) |
N432S |
probably damaging |
Het |
| Tubg2 |
C |
A |
11: 101,049,883 (GRCm39) |
D176E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,039,264 (GRCm39) |
W466R |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,807 (GRCm39) |
K143E |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,000 (GRCm39) |
L635F |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,267 (GRCm39) |
|
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,910 (GRCm39) |
M689K |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,325 (GRCm39) |
Y79H |
probably benign |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,186 (GRCm39) |
F224L |
probably benign |
Het |
| Zfp493 |
T |
G |
13: 67,934,921 (GRCm39) |
I291M |
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 |
|
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 |
2013-11-05 |
Incidental Mutation