Incidental Mutation 'R1953:Usp47'
ID |
217475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp47
|
Ensembl Gene |
ENSMUSG00000059263 |
Gene Name |
ubiquitin specific peptidase 47 |
Synonyms |
A630020C16Rik, 4930502N04Rik |
MMRRC Submission |
039967-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.839)
|
Stock # |
R1953 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111692083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 848
(D848E)
|
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: D828E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000102264 Gene: ENSMUSG00000059263 AA Change: D828E
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: D848E
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210526
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215510
AA Change: D848E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,268,772 (GRCm39) |
D12E |
probably damaging |
Het |
Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
Actr1a |
G |
A |
19: 46,369,387 (GRCm39) |
S209F |
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,028,991 (GRCm39) |
N247S |
probably benign |
Het |
Anapc4 |
T |
C |
5: 52,997,030 (GRCm39) |
L101S |
probably damaging |
Het |
Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
Ascc3 |
T |
C |
10: 50,721,726 (GRCm39) |
S2060P |
probably benign |
Het |
Atp9b |
G |
A |
18: 80,797,522 (GRCm39) |
T851I |
possibly damaging |
Het |
Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
Bpifb9b |
A |
C |
2: 154,153,234 (GRCm39) |
D100A |
probably damaging |
Het |
Cant1 |
G |
C |
11: 118,299,609 (GRCm39) |
P247A |
probably damaging |
Het |
Capza3 |
A |
T |
6: 139,988,294 (GRCm39) |
I298L |
possibly damaging |
Het |
Cdh10 |
T |
C |
15: 18,966,997 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,720,381 (GRCm39) |
V2551A |
probably benign |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cmtr2 |
T |
C |
8: 110,948,551 (GRCm39) |
L287P |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,997,313 (GRCm39) |
T257I |
probably benign |
Het |
Crispld2 |
G |
A |
8: 120,742,035 (GRCm39) |
V128M |
probably damaging |
Het |
Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,859,332 (GRCm39) |
T2043A |
probably benign |
Het |
Dscaml1 |
C |
T |
9: 45,581,522 (GRCm39) |
T447I |
probably benign |
Het |
Eif2ak3 |
A |
G |
6: 70,869,538 (GRCm39) |
T742A |
probably benign |
Het |
Farp1 |
A |
G |
14: 121,492,894 (GRCm39) |
T499A |
probably benign |
Het |
Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
Fgd5 |
C |
A |
6: 92,001,611 (GRCm39) |
H935Q |
probably benign |
Het |
Fhl4 |
A |
T |
10: 84,934,171 (GRCm39) |
D203E |
probably benign |
Het |
Gapt |
T |
G |
13: 110,490,340 (GRCm39) |
T108P |
probably damaging |
Het |
Gpt2 |
A |
G |
8: 86,248,013 (GRCm39) |
T419A |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,681,291 (GRCm39) |
V907A |
probably damaging |
Het |
Hmbs |
T |
C |
9: 44,248,741 (GRCm39) |
D211G |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
Itfg1 |
A |
G |
8: 86,557,860 (GRCm39) |
V170A |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,349,009 (GRCm39) |
T732S |
probably benign |
Het |
Klhl3 |
A |
G |
13: 58,159,022 (GRCm39) |
Y546H |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,832,540 (GRCm39) |
H1670Y |
possibly damaging |
Het |
Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
Nlrp10 |
T |
C |
7: 108,524,325 (GRCm39) |
D385G |
probably benign |
Het |
Nr2e3 |
T |
A |
9: 59,857,079 (GRCm39) |
D30V |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,294 (GRCm39) |
S580P |
probably benign |
Het |
Or4c108 |
G |
A |
2: 88,804,224 (GRCm39) |
Q4* |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,774,267 (GRCm39) |
L64P |
probably damaging |
Het |
Or4e2 |
T |
A |
14: 52,688,344 (GRCm39) |
V158E |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,680,038 (GRCm39) |
H952R |
probably damaging |
Het |
Plin4 |
T |
A |
17: 56,410,849 (GRCm39) |
I1061F |
possibly damaging |
Het |
Pnkp |
C |
A |
7: 44,512,026 (GRCm39) |
R517S |
probably benign |
Het |
Polr2e |
T |
A |
10: 79,874,388 (GRCm39) |
E39D |
probably benign |
Het |
Pramel18 |
T |
C |
4: 101,767,312 (GRCm39) |
I187T |
probably benign |
Het |
Prokr1 |
T |
C |
6: 87,565,575 (GRCm39) |
Y90C |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
Rere |
G |
A |
4: 150,701,294 (GRCm39) |
E1225K |
probably damaging |
Het |
Rsl24d1 |
G |
T |
9: 73,021,896 (GRCm39) |
|
probably benign |
Het |
Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
Smad2 |
A |
G |
18: 76,395,776 (GRCm39) |
T72A |
possibly damaging |
Het |
Snx29 |
G |
A |
16: 11,217,647 (GRCm39) |
W149* |
probably null |
Het |
Stk31 |
G |
T |
6: 49,423,412 (GRCm39) |
|
probably null |
Het |
Sult1e1 |
T |
G |
5: 87,735,530 (GRCm39) |
|
probably null |
Het |
Syngap1 |
G |
A |
17: 27,163,661 (GRCm39) |
R41H |
possibly damaging |
Het |
Tbc1d17 |
T |
A |
7: 44,490,822 (GRCm39) |
|
probably null |
Het |
Tex55 |
G |
T |
16: 38,648,275 (GRCm39) |
T278K |
possibly damaging |
Het |
Tie1 |
A |
T |
4: 118,329,987 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,283,122 (GRCm39) |
I272T |
probably benign |
Het |
Vwa1 |
C |
T |
4: 155,857,571 (GRCm39) |
V76M |
probably damaging |
Het |
Xrn1 |
G |
T |
9: 95,906,274 (GRCm39) |
|
probably null |
Het |
Zfp667 |
G |
T |
7: 6,308,087 (GRCm39) |
V252F |
probably benign |
Het |
Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTTGTTGAAAGCTCTGAGAC -3'
(R):5'- TGAATGTGCTGTTCAAGTTCTC -3'
Sequencing Primer
(F):5'- AGCTCTGAGACAGTGGATCACC -3'
(R):5'- CAAGTTCTCGATTATCCACAGAGGTG -3'
|
Posted On |
2014-08-01 |