Incidental Mutation 'R1640:Usp47'
| ID |
173468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp47
|
| Ensembl Gene |
ENSMUSG00000059263 |
| Gene Name |
ubiquitin specific peptidase 47 |
| Synonyms |
A630020C16Rik, 4930502N04Rik |
| MMRRC Submission |
039676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
R1640 (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 C
at 111682334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 540
(S540P)
|
| 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: S520P
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: S520P
| 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: S540P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215510
AA Change: S540P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
A |
8: 125,566,584 (GRCm39) |
V279L |
probably damaging |
Het |
| Acot6 |
A |
T |
12: 84,147,900 (GRCm39) |
Y52F |
probably damaging |
Het |
| Adam22 |
C |
T |
5: 8,195,689 (GRCm39) |
V284I |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,545,739 (GRCm39) |
H1352Q |
probably benign |
Het |
| Aldh18a1 |
G |
A |
19: 40,573,943 (GRCm39) |
P27S |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,499,233 (GRCm39) |
N473S |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,423,233 (GRCm39) |
L269P |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,164,021 (GRCm39) |
V390A |
probably damaging |
Het |
| Ccp110 |
T |
G |
7: 118,314,751 (GRCm39) |
|
probably null |
Het |
| Cerk |
A |
G |
15: 86,033,601 (GRCm39) |
V274A |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,488,307 (GRCm39) |
S570T |
probably benign |
Het |
| Chst14 |
T |
A |
2: 118,757,379 (GRCm39) |
W83R |
probably damaging |
Het |
| Chsy1 |
A |
T |
7: 65,821,262 (GRCm39) |
D499V |
probably benign |
Het |
| Ckmt1 |
C |
A |
2: 121,190,198 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,496,460 (GRCm39) |
V282D |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,218,974 (GRCm39) |
S549T |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,702,289 (GRCm39) |
D1203V |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,513,491 (GRCm39) |
Y169H |
unknown |
Het |
| Cwc22 |
A |
G |
2: 77,745,874 (GRCm39) |
F454S |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,089 (GRCm39) |
W298R |
possibly damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,483 (GRCm39) |
T1906N |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,203 (GRCm39) |
T67A |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,521,301 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ech1 |
A |
T |
7: 28,531,264 (GRCm39) |
H284L |
probably damaging |
Het |
| Epc1 |
G |
A |
18: 6,441,175 (GRCm39) |
Q8* |
probably null |
Het |
| Etv5 |
A |
T |
16: 22,254,664 (GRCm39) |
D65E |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,534 (GRCm39) |
R254G |
probably benign |
Het |
| Fabp5 |
T |
G |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,483 (GRCm39) |
I611T |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,433,806 (GRCm39) |
S117P |
possibly damaging |
Het |
| Frmd4b |
A |
C |
6: 97,285,634 (GRCm39) |
S291A |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,950,558 (GRCm39) |
Y413C |
probably damaging |
Het |
| Gfer |
A |
G |
17: 24,914,337 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,764,254 (GRCm39) |
H1299R |
possibly damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,679 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5a |
T |
G |
6: 135,055,652 (GRCm39) |
L33W |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,844,721 (GRCm39) |
T121A |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,163,248 (GRCm39) |
V33A |
probably benign |
Het |
| Hc |
A |
T |
2: 34,947,336 (GRCm39) |
Y59* |
probably null |
Het |
| Hrnr |
A |
G |
3: 93,239,823 (GRCm39) |
I3354V |
unknown |
Het |
| Hyou1 |
C |
G |
9: 44,300,703 (GRCm39) |
T924S |
probably benign |
Het |
| Ifi209 |
T |
G |
1: 173,464,931 (GRCm39) |
H20Q |
probably damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,171 (GRCm39) |
V372A |
probably benign |
Het |
| Igdcc4 |
T |
A |
9: 65,030,077 (GRCm39) |
L328H |
probably damaging |
Het |
| Jkampl |
A |
G |
6: 73,445,869 (GRCm39) |
Y227H |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,120,161 (GRCm39) |
T155A |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,938 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,191,753 (GRCm39) |
D281G |
possibly damaging |
Het |
| Larp1b |
T |
A |
3: 40,988,507 (GRCm39) |
M1K |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,490,259 (GRCm39) |
D1225G |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,197 (GRCm39) |
*736Q |
probably null |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ncf2 |
T |
A |
1: 152,683,784 (GRCm39) |
M1K |
probably null |
Het |
| Or5t15 |
T |
A |
2: 86,681,571 (GRCm39) |
H157L |
probably benign |
Het |
| Or8h10 |
A |
C |
2: 86,808,963 (GRCm39) |
M59R |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,073,574 (GRCm39) |
D417G |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,612 (GRCm39) |
H208R |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,727,603 (GRCm39) |
I132T |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,041 (GRCm39) |
D610G |
possibly damaging |
Het |
| Plbd1 |
T |
C |
6: 136,617,123 (GRCm39) |
K185E |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,086,126 (GRCm39) |
M425V |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,548,231 (GRCm39) |
V805D |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,671,059 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,178 (GRCm39) |
S711P |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,036,340 (GRCm39) |
L212* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,681,668 (GRCm39) |
D41G |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,306,937 (GRCm39) |
V354E |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,196,254 (GRCm39) |
I3632T |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,192,914 (GRCm39) |
S77G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,346,297 (GRCm39) |
V1245D |
probably benign |
Het |
| Tox4 |
T |
A |
14: 52,530,000 (GRCm39) |
D553E |
possibly damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,759 (GRCm39) |
Y193* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,130 (GRCm39) |
Y1169C |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,569,514 (GRCm39) |
T1404I |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,548 (GRCm39) |
M126L |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,348 (GRCm39) |
F314S |
probably damaging |
Het |
| Vmn2r112 |
A |
T |
17: 22,824,097 (GRCm39) |
I451L |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,806 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
A |
T |
14: 22,034,969 (GRCm39) |
L649Q |
probably damaging |
Het |
| Zfp977 |
A |
C |
7: 42,229,530 (GRCm39) |
C332G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTGAGCCTGATTCACCAGAGC -3'
(R):5'- GGTCAGATGGTCTGTACTGCAACTC -3'
Sequencing Primer
(F):5'- gggaaggtcgtaacagagg -3'
(R):5'- CTGCAACTCAAGGTATGTTACAGTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation