Incidental Mutation 'IGL02756:Usp47'
ID |
306448 |
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: 0.870)
|
Stock # |
IGL02756
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
111622692-111710591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111692270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 911
(S911P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106653]
[ENSMUST00000210309]
[ENSMUST00000215510]
|
AlphaFold |
Q8BY87 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106653
AA Change: S891P
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102264 Gene: ENSMUSG00000059263 AA Change: S891P
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: S911P
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210526
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215510
AA Change: S911P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 87,000,970 (GRCm39) |
D54V |
probably damaging |
Het |
Adamts18 |
C |
A |
8: 114,440,976 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
T |
A |
4: 98,919,399 (GRCm39) |
L53Q |
probably damaging |
Het |
Apc |
A |
G |
18: 34,447,588 (GRCm39) |
T1461A |
probably damaging |
Het |
Arl11 |
T |
A |
14: 61,548,535 (GRCm39) |
V115D |
probably damaging |
Het |
Cabp4 |
C |
A |
19: 4,188,560 (GRCm39) |
V173L |
possibly damaging |
Het |
Casq1 |
T |
A |
1: 172,042,672 (GRCm39) |
D230V |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,936,824 (GRCm39) |
I821V |
possibly damaging |
Het |
Cfap65 |
T |
C |
1: 74,944,239 (GRCm39) |
Y1494C |
probably benign |
Het |
Chd1 |
T |
A |
17: 15,951,069 (GRCm39) |
S215T |
probably damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,169,049 (GRCm39) |
E593G |
possibly damaging |
Het |
Cstf1 |
A |
G |
2: 172,217,795 (GRCm39) |
D136G |
probably damaging |
Het |
Ddx19b |
T |
C |
8: 111,737,910 (GRCm39) |
|
probably benign |
Het |
Dido1 |
A |
T |
2: 180,303,716 (GRCm39) |
L1396Q |
probably benign |
Het |
Ermn |
A |
G |
2: 57,937,824 (GRCm39) |
I263T |
probably damaging |
Het |
F12 |
T |
A |
13: 55,568,880 (GRCm39) |
Q294L |
possibly damaging |
Het |
Far2 |
A |
T |
6: 148,058,889 (GRCm39) |
I192F |
probably damaging |
Het |
Fshb |
T |
A |
2: 106,889,218 (GRCm39) |
I29F |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,427,811 (GRCm39) |
Y251N |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,831,890 (GRCm39) |
I997V |
possibly damaging |
Het |
Gprc5d |
A |
G |
6: 135,093,613 (GRCm39) |
V98A |
probably damaging |
Het |
H2-T23 |
T |
C |
17: 36,342,580 (GRCm39) |
E186G |
probably damaging |
Het |
Khdrbs3 |
C |
T |
15: 68,896,685 (GRCm39) |
T115I |
probably benign |
Het |
Kifap3 |
C |
T |
1: 163,689,597 (GRCm39) |
T527M |
probably damaging |
Het |
Mfsd2a |
C |
T |
4: 122,842,332 (GRCm39) |
A512T |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,791,235 (GRCm39) |
D135G |
probably benign |
Het |
Mylk |
T |
C |
16: 34,784,016 (GRCm39) |
V1394A |
probably benign |
Het |
Nek9 |
A |
C |
12: 85,358,110 (GRCm39) |
|
probably null |
Het |
Or51q1c |
T |
C |
7: 103,652,866 (GRCm39) |
I128T |
probably damaging |
Het |
Or8k16 |
T |
C |
2: 85,520,402 (GRCm39) |
S210P |
probably damaging |
Het |
P2rx2 |
T |
A |
5: 110,490,276 (GRCm39) |
|
probably benign |
Het |
P4htm |
A |
G |
9: 108,456,977 (GRCm39) |
L410P |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,963,748 (GRCm39) |
W921R |
probably benign |
Het |
Pnisr |
T |
C |
4: 21,862,175 (GRCm39) |
F288L |
probably benign |
Het |
Ppp4r3a |
C |
T |
12: 101,024,582 (GRCm39) |
|
probably null |
Het |
Prss34 |
T |
C |
17: 25,518,251 (GRCm39) |
S144P |
probably damaging |
Het |
Qrsl1 |
T |
C |
10: 43,758,110 (GRCm39) |
T328A |
probably benign |
Het |
Rab33b |
A |
T |
3: 51,391,945 (GRCm39) |
T65S |
probably damaging |
Het |
Rdh8 |
A |
G |
9: 20,736,637 (GRCm39) |
S235G |
possibly damaging |
Het |
Rrp12 |
T |
C |
19: 41,884,500 (GRCm39) |
K6R |
probably benign |
Het |
Sec24a |
T |
C |
11: 51,587,560 (GRCm39) |
D1025G |
probably benign |
Het |
Sgo2a |
T |
G |
1: 58,055,509 (GRCm39) |
N564K |
probably damaging |
Het |
Slc43a3 |
A |
T |
2: 84,774,612 (GRCm39) |
M130L |
probably benign |
Het |
Soat1 |
T |
C |
1: 156,274,145 (GRCm39) |
I89V |
probably benign |
Het |
St3gal5 |
A |
G |
6: 72,126,157 (GRCm39) |
D307G |
probably null |
Het |
Stxbp3-ps |
C |
T |
19: 9,535,193 (GRCm39) |
|
noncoding transcript |
Het |
Tacr2 |
A |
G |
10: 62,097,469 (GRCm39) |
|
probably benign |
Het |
Tg |
C |
T |
15: 66,606,435 (GRCm39) |
T193I |
probably benign |
Het |
Tnik |
A |
G |
3: 28,596,179 (GRCm39) |
T191A |
probably damaging |
Het |
Trim27 |
T |
C |
13: 21,374,256 (GRCm39) |
|
probably benign |
Het |
Usf2 |
A |
T |
7: 30,646,417 (GRCm39) |
C134* |
probably null |
Het |
Usp14 |
A |
G |
18: 10,001,769 (GRCm39) |
|
probably null |
Het |
Vmn1r73 |
T |
A |
7: 11,490,574 (GRCm39) |
S131T |
possibly damaging |
Het |
Vmn2r80 |
T |
C |
10: 79,030,145 (GRCm39) |
I657T |
probably damaging |
Het |
Zfp935 |
A |
T |
13: 62,602,701 (GRCm39) |
C166* |
probably null |
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 |
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 |
2015-04-16 |