Incidental Mutation 'R9628:Usp47'
| ID |
725283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp47
|
| Ensembl Gene |
ENSMUSG00000059263 |
| Gene Name |
ubiquitin specific peptidase 47 |
| Synonyms |
A630020C16Rik, 4930502N04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R9628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111705999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1220
(M1220I)
|
| 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: M1200I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: M1200I
| 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: M1220I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215510
AA Change: M1220I
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,193 (GRCm39) |
N635D |
probably damaging |
Het |
| Ankrd13c |
G |
C |
3: 157,653,313 (GRCm39) |
K50N |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,838,025 (GRCm39) |
Y635C |
unknown |
Het |
| Avl9 |
T |
A |
6: 56,713,460 (GRCm39) |
Y239* |
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,097,961 (GRCm39) |
H1449Q |
|
Het |
| Ccdc141 |
G |
A |
2: 76,844,838 (GRCm39) |
P1410S |
probably damaging |
Het |
| Ccz1 |
G |
A |
5: 143,925,043 (GRCm39) |
T471M |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,083,213 (GRCm39) |
S27P |
|
Het |
| Cdk11b |
T |
G |
4: 155,734,154 (GRCm39) |
D756E |
unknown |
Het |
| Celsr3 |
C |
A |
9: 108,703,559 (GRCm39) |
S14* |
probably null |
Het |
| Cntrob |
T |
C |
11: 69,213,782 (GRCm39) |
T3A |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,004,923 (GRCm39) |
E428G |
unknown |
Het |
| Csde1 |
T |
C |
3: 102,962,825 (GRCm39) |
V738A |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,118,999 (GRCm39) |
Y230H |
unknown |
Het |
| Dip2a |
A |
G |
10: 76,142,993 (GRCm39) |
I264T |
probably damaging |
Het |
| Dleu7 |
C |
A |
14: 62,530,144 (GRCm39) |
A86S |
possibly damaging |
Het |
| Dnmbp |
T |
A |
19: 43,858,646 (GRCm39) |
D132V |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,111,672 (GRCm39) |
V219A |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,292 (GRCm39) |
Y256C |
probably benign |
Het |
| Ess2 |
A |
T |
16: 17,720,757 (GRCm39) |
M363K |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,825,010 (GRCm39) |
E168G |
probably damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,545 (GRCm39) |
Y18C |
probably damaging |
Het |
| Gckr |
C |
A |
5: 31,457,934 (GRCm39) |
A147D |
probably damaging |
Het |
| H1f8 |
G |
A |
6: 115,924,700 (GRCm39) |
V69I |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,901,560 (GRCm39) |
L506P |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
| Larp1b |
T |
C |
3: 40,916,103 (GRCm39) |
|
probably null |
Het |
| Ldhb |
T |
C |
6: 142,439,862 (GRCm39) |
E226G |
probably damaging |
Het |
| Lpar5 |
T |
G |
6: 125,058,948 (GRCm39) |
V223G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,394,330 (GRCm39) |
V365A |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,776 (GRCm39) |
K464E |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,158,285 (GRCm39) |
I1000T |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,568,966 (GRCm39) |
L35P |
probably damaging |
Het |
| Nptx2 |
G |
A |
5: 144,490,261 (GRCm39) |
R230H |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,183,274 (GRCm39) |
R328H |
probably damaging |
Het |
| Or1e25 |
G |
A |
11: 73,493,864 (GRCm39) |
V153I |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,670 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
G |
9: 38,399,871 (GRCm39) |
L182R |
probably benign |
Het |
| Padi6 |
G |
A |
4: 140,464,626 (GRCm39) |
T201I |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,354,985 (GRCm39) |
T13I |
possibly damaging |
Het |
| Ppp6r1 |
G |
A |
7: 4,636,112 (GRCm39) |
A782V |
probably benign |
Het |
| Rab18 |
G |
A |
18: 6,788,647 (GRCm39) |
V205M |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,398 (GRCm39) |
I722N |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,512 (GRCm39) |
V135A |
possibly damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,961,422 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
T |
C |
5: 31,197,746 (GRCm39) |
Y321C |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,555,186 (GRCm39) |
D178E |
probably benign |
Het |
| Swsap1 |
T |
G |
9: 21,867,172 (GRCm39) |
S39A |
|
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tor1aip1 |
C |
A |
1: 155,893,320 (GRCm39) |
G276* |
probably null |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r35 |
A |
G |
7: 7,815,702 (GRCm39) |
V489A |
probably benign |
Het |
| Wif1 |
T |
C |
10: 120,932,549 (GRCm39) |
V309A |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,842,630 (GRCm39) |
N434D |
probably damaging |
Het |
| Zfp462 |
A |
T |
4: 55,009,423 (GRCm39) |
H463L |
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 |
|
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 |
|
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'- ACTAGGGAGAGTTGTCTTCTGAGAG -3'
(R):5'- GAGGAATCCTGCCTTCAGTG -3'
Sequencing Primer
(F):5'- TGTAGAGGACCCAAGTTCCATTC -3'
(R):5'- GGCTGGTACTTCCTTCCCAGATAAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation