Incidental Mutation 'R4161:Usp38'
| ID |
321527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp38
|
| Ensembl Gene |
ENSMUSG00000038250 |
| Gene Name |
ubiquitin specific peptidase 38 |
| Synonyms |
4833420O05Rik, 4631402N15Rik |
| MMRRC Submission |
041004-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
81707362-81741557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81719967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 421
(A421T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042724]
|
| AlphaFold |
Q8BW70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042724
AA Change: A421T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: A421T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
1 |
365 |
5e-3 |
SMART |
|
Pfam:UCH
|
444 |
946 |
1.8e-47 |
PFAM |
|
Pfam:UCH_1
|
445 |
921 |
2.2e-23 |
PFAM |
|
low complexity region
|
995 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211538
|
| Meta Mutation Damage Score |
0.2216 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (39/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
A |
G |
9: 121,738,588 (GRCm39) |
Y321C |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,919,728 (GRCm39) |
S163P |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,382,234 (GRCm39) |
M70T |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,281 (GRCm39) |
I339N |
probably damaging |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cxcl2 |
A |
T |
5: 91,051,881 (GRCm39) |
|
probably null |
Het |
| Exosc3 |
T |
C |
4: 45,320,619 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,348,853 (GRCm39) |
K86N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,489,824 (GRCm39) |
A3579T |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,996,958 (GRCm39) |
V1726I |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,982,198 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
T |
A |
6: 70,495,542 (GRCm39) |
V23E |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,919 (GRCm39) |
C95R |
possibly damaging |
Het |
| Kif16b |
G |
A |
2: 142,549,324 (GRCm39) |
H1064Y |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Plec |
T |
C |
15: 76,063,851 (GRCm39) |
E2141G |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,724 (GRCm39) |
S395P |
probably damaging |
Het |
| Prss12 |
A |
T |
3: 123,279,176 (GRCm39) |
K418* |
probably null |
Het |
| Rtn3 |
G |
A |
19: 7,460,444 (GRCm39) |
A2V |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,281,898 (GRCm39) |
T452A |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,210 (GRCm39) |
L323P |
probably damaging |
Het |
| Srprb |
A |
G |
9: 103,078,529 (GRCm39) |
F67S |
possibly damaging |
Het |
| Tk2 |
T |
C |
8: 104,965,465 (GRCm39) |
S101G |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,658,751 (GRCm39) |
L1135P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,833,277 (GRCm39) |
N3058K |
probably damaging |
Het |
| Vmn1r221 |
G |
A |
13: 23,402,176 (GRCm39) |
|
noncoding transcript |
Het |
| Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,356 (GRCm39) |
S707P |
probably damaging |
Het |
|
| Other mutations in Usp38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Usp38
|
APN |
8 |
81,740,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01373:Usp38
|
APN |
8 |
81,716,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02089:Usp38
|
APN |
8 |
81,712,343 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02528:Usp38
|
APN |
8 |
81,719,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Usp38
|
APN |
8 |
81,712,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02615:Usp38
|
APN |
8 |
81,711,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03340:Usp38
|
APN |
8 |
81,738,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Usp38
|
UTSW |
8 |
81,708,525 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0313:Usp38
|
UTSW |
8 |
81,711,071 (GRCm39) |
nonsense |
probably null |
|
|
R0331:Usp38
|
UTSW |
8 |
81,722,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0497:Usp38
|
UTSW |
8 |
81,711,053 (GRCm39) |
splice site |
probably benign |
|
|
R0594:Usp38
|
UTSW |
8 |
81,731,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0632:Usp38
|
UTSW |
8 |
81,740,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1355:Usp38
|
UTSW |
8 |
81,711,662 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1500:Usp38
|
UTSW |
8 |
81,722,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Usp38
|
UTSW |
8 |
81,711,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1880:Usp38
|
UTSW |
8 |
81,727,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Usp38
|
UTSW |
8 |
81,719,928 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4882:Usp38
|
UTSW |
8 |
81,708,606 (GRCm39) |
nonsense |
probably null |
|
|
R5344:Usp38
|
UTSW |
8 |
81,712,392 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5481:Usp38
|
UTSW |
8 |
81,719,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5564:Usp38
|
UTSW |
8 |
81,711,717 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5897:Usp38
|
UTSW |
8 |
81,732,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6111:Usp38
|
UTSW |
8 |
81,740,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Usp38
|
UTSW |
8 |
81,740,920 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6912:Usp38
|
UTSW |
8 |
81,719,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Usp38
|
UTSW |
8 |
81,727,750 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7483:Usp38
|
UTSW |
8 |
81,741,190 (GRCm39) |
start gained |
probably benign |
|
|
R7525:Usp38
|
UTSW |
8 |
81,740,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Usp38
|
UTSW |
8 |
81,708,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Usp38
|
UTSW |
8 |
81,727,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Usp38
|
UTSW |
8 |
81,711,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7988:Usp38
|
UTSW |
8 |
81,740,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8062:Usp38
|
UTSW |
8 |
81,711,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Usp38
|
UTSW |
8 |
81,712,031 (GRCm39) |
missense |
probably benign |
|
|
R8514:Usp38
|
UTSW |
8 |
81,712,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Usp38
|
UTSW |
8 |
81,708,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9119:Usp38
|
UTSW |
8 |
81,711,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Usp38
|
UTSW |
8 |
81,741,164 (GRCm39) |
start gained |
probably benign |
|
|
RF016:Usp38
|
UTSW |
8 |
81,740,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTACGCTGCTTACACGGG -3'
(R):5'- TGTCATGTACAGAATGAGTGAGAGC -3'
Sequencing Primer
(F):5'- AGCAGGGACGATTCTCTCCTC -3'
(R):5'- AGCAAAGACAGCTCAAATGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation