Incidental Mutation 'R4176:Usp38'
ID |
319514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp38
|
Ensembl Gene |
ENSMUSG00000038250 |
Gene Name |
ubiquitin specific peptidase 38 |
Synonyms |
4833420O05Rik, 4631402N15Rik |
MMRRC Submission |
041014-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4176 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
81707362-81741557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 81719928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 434
(S434A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039943
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042724]
|
AlphaFold |
Q8BW70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042724
AA Change: S434A
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039943 Gene: ENSMUSG00000038250 AA Change: S434A
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,522,000 (GRCm39) |
E1274G |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,472,563 (GRCm39) |
E424G |
probably damaging |
Het |
Ankrd10 |
A |
G |
8: 11,662,644 (GRCm39) |
I363T |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,334,361 (GRCm39) |
N204K |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,463,098 (GRCm39) |
S954* |
probably null |
Het |
Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
Dagla |
G |
T |
19: 10,240,461 (GRCm39) |
D256E |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,713,720 (GRCm39) |
F230L |
probably benign |
Het |
Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
Emilin2 |
A |
T |
17: 71,581,258 (GRCm39) |
D489E |
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,754 (GRCm39) |
V87A |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,623,365 (GRCm39) |
|
probably null |
Het |
Fam149a |
A |
G |
8: 45,794,321 (GRCm39) |
Y614H |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,926,131 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
T |
C |
7: 57,241,061 (GRCm39) |
F13S |
probably benign |
Het |
Hydin |
G |
A |
8: 111,320,452 (GRCm39) |
A4499T |
probably benign |
Het |
Islr2 |
A |
T |
9: 58,107,183 (GRCm39) |
C26S |
probably damaging |
Het |
Jup |
T |
A |
11: 100,263,287 (GRCm39) |
D696V |
probably benign |
Het |
Kcnq5 |
A |
C |
1: 21,605,392 (GRCm39) |
V171G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,914,680 (GRCm39) |
S667A |
possibly damaging |
Het |
Loxhd1 |
A |
G |
18: 77,418,755 (GRCm39) |
T293A |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,298,405 (GRCm39) |
C138F |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,427,426 (GRCm39) |
H1388L |
unknown |
Het |
Mctp2 |
A |
G |
7: 71,909,085 (GRCm39) |
I76T |
probably benign |
Het |
Or2z8 |
A |
G |
8: 72,812,028 (GRCm39) |
Y168C |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
Pbx1 |
A |
G |
1: 168,018,841 (GRCm39) |
|
probably null |
Het |
Pelp1 |
A |
T |
11: 70,287,693 (GRCm39) |
W410R |
probably damaging |
Het |
Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,806,971 (GRCm39) |
L3482P |
probably benign |
Het |
Plekhn1 |
C |
T |
4: 156,306,258 (GRCm39) |
G604E |
probably benign |
Het |
Ptpn22 |
A |
G |
3: 103,793,561 (GRCm39) |
T571A |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,760,828 (GRCm39) |
S252T |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,978,863 (GRCm39) |
M280K |
probably damaging |
Het |
Serpinh1 |
T |
C |
7: 98,996,206 (GRCm39) |
M293V |
probably benign |
Het |
Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
Slc26a8 |
T |
A |
17: 28,866,973 (GRCm39) |
E585D |
probably benign |
Het |
Slc34a2 |
T |
G |
5: 53,224,910 (GRCm39) |
C350W |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,394,586 (GRCm39) |
|
probably null |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,671,083 (GRCm39) |
K633R |
possibly damaging |
Het |
Zbtb16 |
A |
G |
9: 48,571,101 (GRCm39) |
F555S |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,125,705 (GRCm39) |
S256T |
probably benign |
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 |
R4161:Usp38
|
UTSW |
8 |
81,719,967 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTTACGCTGCTTACACGG -3'
(R):5'- TCAAATGTCAGTAGGGAAGTCC -3'
Sequencing Primer
(F):5'- AGCAGGGACGATTCTCTCCTC -3'
(R):5'- CTTTCCTAAGCCCAGTGA -3'
|
Posted On |
2015-06-10 |