Incidental Mutation 'R7938:Usp47'
| ID |
648867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp47
|
| Ensembl Gene |
ENSMUSG00000059263 |
| Gene Name |
ubiquitin specific peptidase 47 |
| Synonyms |
A630020C16Rik, 4930502N04Rik |
| MMRRC Submission |
045984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
R7938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111687132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 697
(L697M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106653]
[ENSMUST00000210309]
[ENSMUST00000215510]
|
| AlphaFold |
Q8BY87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106653
AA Change: L677M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: L677M
| 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: L697M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215510
AA Change: L697M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.5659 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bcam |
T |
G |
7: 19,490,738 (GRCm39) |
E586D |
probably benign |
Het |
| Bmp7 |
A |
C |
2: 172,721,283 (GRCm39) |
I264S |
probably benign |
Het |
| Casz1 |
G |
A |
4: 149,028,943 (GRCm39) |
M1129I |
probably benign |
Het |
| Ccdc59 |
T |
A |
10: 105,677,455 (GRCm39) |
N31K |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,887,376 (GRCm39) |
Y607C |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,597 (GRCm39) |
E639G |
probably benign |
Het |
| Coch |
T |
A |
12: 51,643,366 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
C |
9: 105,657,883 (GRCm39) |
Y776* |
probably null |
Het |
| Cyp1a1 |
T |
G |
9: 57,609,073 (GRCm39) |
L318R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,666 (GRCm39) |
Y233F |
probably benign |
Het |
| Dgkz |
G |
T |
2: 91,795,817 (GRCm39) |
R42S |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,673,218 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,163,922 (GRCm39) |
N3111S |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,260,246 (GRCm39) |
S768P |
probably benign |
Het |
| Gm45861 |
T |
A |
8: 28,071,990 (GRCm39) |
N1269K |
unknown |
Het |
| Gpr12 |
T |
A |
5: 146,520,094 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Hace1 |
C |
T |
10: 45,562,792 (GRCm39) |
P769L |
probably benign |
Het |
| Hapln1 |
G |
A |
13: 89,753,347 (GRCm39) |
R171H |
probably damaging |
Het |
| Hlx |
T |
G |
1: 184,464,125 (GRCm39) |
T72P |
probably benign |
Het |
| Iqcm |
G |
T |
8: 76,304,596 (GRCm39) |
C119F |
probably benign |
Het |
| Katna1 |
G |
T |
10: 7,637,075 (GRCm39) |
A409S |
probably benign |
Het |
| Kcnip2 |
A |
T |
19: 45,782,729 (GRCm39) |
I204N |
probably damaging |
Het |
| Kel |
G |
T |
6: 41,675,310 (GRCm39) |
Q314K |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,536,444 (GRCm39) |
V5A |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,607,896 (GRCm39) |
C282S |
probably benign |
Het |
| Lyar |
A |
G |
5: 38,388,295 (GRCm39) |
T274A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,415,959 (GRCm39) |
H306R |
possibly damaging |
Het |
| Morn5 |
A |
T |
2: 35,947,082 (GRCm39) |
Y120F |
probably benign |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,240 (GRCm39) |
T193A |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,583,327 (GRCm39) |
W8R |
unknown |
Het |
| Nfasc |
A |
G |
1: 132,533,269 (GRCm39) |
V644A |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,842,855 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,141,866 (GRCm39) |
K393E |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,590,991 (GRCm39) |
M107L |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,173 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h19 |
A |
T |
16: 58,856,325 (GRCm39) |
Y258* |
probably null |
Het |
| Orc4 |
A |
T |
2: 48,800,203 (GRCm39) |
V315E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,443,549 (GRCm39) |
|
probably null |
Het |
| Pif1 |
A |
G |
9: 65,502,073 (GRCm39) |
D635G |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,310,648 (GRCm39) |
T52A |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,180 (GRCm39) |
D301V |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
| Qser1 |
A |
C |
2: 104,619,312 (GRCm39) |
V410G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,155,870 (GRCm39) |
N2207K |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,327,810 (GRCm39) |
V180A |
probably benign |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rsph3a |
G |
T |
17: 8,165,050 (GRCm39) |
E137* |
probably null |
Het |
| Spata31f1a |
A |
G |
4: 42,850,765 (GRCm39) |
S464P |
possibly damaging |
Het |
| Sqle |
C |
A |
15: 59,196,315 (GRCm39) |
H369Q |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,057,016 (GRCm39) |
D250E |
probably damaging |
Het |
| Svs3b |
A |
T |
2: 164,097,567 (GRCm39) |
C251* |
probably null |
Het |
| Tdrd9 |
A |
T |
12: 111,997,649 (GRCm39) |
N713Y |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,717 (GRCm39) |
S202P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trav8-1 |
T |
G |
14: 53,707,688 (GRCm39) |
D109E |
possibly damaging |
Het |
| Trem2 |
T |
A |
17: 48,658,777 (GRCm39) |
S181T |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,037,863 (GRCm39) |
N199S |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,111,712 (GRCm39) |
M227T |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,296,519 (GRCm39) |
I448F |
possibly damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,300 (GRCm39) |
D613G |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,622,304 (GRCm39) |
Y11C |
unknown |
Het |
| Zw10 |
T |
A |
9: 48,982,933 (GRCm39) |
D521E |
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 |
|
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 |
|
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'- GGTCTTGGCCTCATGGAAT -3'
(R):5'- GCTGACTACTTCTCAACCTATCAA -3'
Sequencing Primer
(F):5'- ATGGCTGCTCATACCCTGTAATAGTG -3'
(R):5'- TACTTCTCAACCTATCAAAACTAAGC -3'
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| Posted On |
2020-09-15 |
Incidental Mutation