Incidental Mutation 'R5322:Usp47'
| ID |
404905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp47
|
| Ensembl Gene |
ENSMUSG00000059263 |
| Gene Name |
ubiquitin specific peptidase 47 |
| Synonyms |
A630020C16Rik, 4930502N04Rik |
| MMRRC Submission |
042905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R5322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111652476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 31
(T31I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106653]
[ENSMUST00000210309]
[ENSMUST00000215510]
|
| AlphaFold |
Q8BY87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106653
AA Change: T31I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: T31I
| 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: T51I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211791
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215510
AA Change: T31I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.3%
- 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,855,159 (GRCm39) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,729,545 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Appbp2 |
A |
G |
11: 85,086,890 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
C |
16: 18,215,508 (GRCm39) |
M176T |
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,809,319 (GRCm39) |
I268T |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,204,484 (GRCm39) |
S933P |
probably damaging |
Het |
| Cfi |
C |
T |
3: 129,666,689 (GRCm39) |
P471S |
probably damaging |
Het |
| Ckmt2 |
G |
T |
13: 92,009,891 (GRCm39) |
T143K |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,078 (GRCm39) |
D15E |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,468,029 (GRCm39) |
K680N |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,757,620 (GRCm39) |
|
probably null |
Het |
| Dcn |
A |
T |
10: 97,353,464 (GRCm39) |
T338S |
probably benign |
Het |
| Dipk2a |
A |
G |
9: 94,402,615 (GRCm39) |
I349T |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,850,630 (GRCm39) |
G1644D |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,384,390 (GRCm39) |
I3045V |
probably benign |
Het |
| Dock3 |
G |
A |
9: 106,779,028 (GRCm39) |
T307I |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,007,715 (GRCm39) |
I1498N |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,081,557 (GRCm39) |
N62Y |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,521,950 (GRCm39) |
H295N |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,541 (GRCm39) |
Y129C |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,172,387 (GRCm39) |
D2139E |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,571 (GRCm39) |
F495I |
probably damaging |
Het |
| Gm43302 |
C |
T |
5: 105,365,347 (GRCm39) |
A554T |
probably benign |
Het |
| Gpr157 |
A |
G |
4: 150,183,309 (GRCm39) |
N160D |
probably benign |
Het |
| Il1rn |
G |
A |
2: 24,238,641 (GRCm39) |
|
probably null |
Het |
| Kctd13 |
T |
A |
7: 126,528,378 (GRCm39) |
L51Q |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,516,722 (GRCm39) |
F1561L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,190,608 (GRCm39) |
|
probably null |
Het |
| Mib1 |
A |
G |
18: 10,792,975 (GRCm39) |
H637R |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,120,151 (GRCm39) |
N93I |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,423,119 (GRCm39) |
|
probably null |
Het |
| Myot |
T |
C |
18: 44,487,216 (GRCm39) |
F351S |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,947,800 (GRCm39) |
N143K |
possibly damaging |
Het |
| Or10ac1 |
T |
C |
6: 42,515,950 (GRCm39) |
D2G |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,879 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,371 (GRCm39) |
V155I |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,502 (GRCm39) |
I213L |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,898,223 (GRCm39) |
R134* |
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,812,050 (GRCm39) |
I887V |
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,901,560 (GRCm39) |
R436Q |
probably benign |
Het |
| Pla2g3 |
A |
G |
11: 3,438,686 (GRCm39) |
E112G |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,322 (GRCm39) |
|
probably null |
Het |
| Rela |
T |
A |
19: 5,695,408 (GRCm39) |
S311R |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,101,985 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
C |
6: 146,772,785 (GRCm39) |
L329P |
probably damaging |
Het |
| Speer4f1 |
A |
T |
5: 17,682,347 (GRCm39) |
I77F |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,402,298 (GRCm39) |
I462V |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,724,306 (GRCm39) |
R385W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,781,034 (GRCm39) |
V2974A |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,616,481 (GRCm39) |
N247S |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,887,107 (GRCm39) |
M582R |
probably damaging |
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 |
|
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'- CCCAAAGCAATCATGGTGC -3'
(R):5'- ATGCTTTAAGTCTGAGGGTTTACC -3'
Sequencing Primer
(F):5'- CTATTGGGATGTGTTTCAAACAGAG -3'
(R):5'- TACCATGTCAGCAGTAGTGACTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation